View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for CRYBB2

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

82 public entries
entries per page

Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
Var_pub_as Hide Var_pub_as column Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
Variant remarks Hide Variant remarks column Descending
Ascending
Origin Hide Origin column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Detection/Template Hide Detection/Template column Descending
Ascending
Detection/Technique Hide Detection/Technique column Descending
Ascending
Frequency Hide Frequency column Descending
Ascending
RE-site Hide RE-site column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Phenotype additional Hide Phenotype additional column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Inheritance Hide Inheritance column Descending
Ascending
Consanguinity Hide Consanguinity column Descending
Ascending
Families/Patients Hide Families/Patients column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
Geographic origin Hide Geographic origin column Descending
Ascending
Ethnic origin Hide Ethnic origin column Descending
Ascending
Gender Hide Gender column Descending
Ascending
Age_onset Hide Age_onset column Descending
Ascending
Phenotype_onset Hide Phenotype_onset column Descending
Ascending
-/? 1i c.-27+77A>G
    + 10 others		 IVS1+84A>G (Z99919.1:65894A>G) r.(?) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 1i c.-27+77A>G IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ 6/7 - cataract - different families JdD - - - 6 India - - - -
-/? 1i c.-27+77A>G
    + c.449+9G>A, c.483G>A, CRYGB (3), CRYGA (2)		 IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, autosomal dominant variable lamellar / nuclear 4-generation family, 8 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.174-476G>A, c.174-337G>A, c.449+9G>A, c.483G>A, CRYGD (3), CRYGB (1), CRYGA (1)		 IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.449+9G>A, c.483G>A, CRYGB (1), CRYGA (1)		 IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular 2-generation family, 2 affecteds JdD - - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.483G>A, CRYGA (1), CRYGD (3)		 IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
-/? 1i c.-27+77A>G
    + c.174-337G>A, c.449+9G>A, c.449+82G>A, CRYGD (3), CRYGB (2)		 IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
-/- 1_6 c.=
    + 10 others		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, cerulean type (CCA2) Cerulean blue 4-generation family, 18 affecteds (1 homozygous) JdD familial, autosomal dominant - - 17 United States - - - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, polymorphic progressive polymorphic 5-generation family, 19 affecteds JdD - - - 19 China - - - -
-/- 1_6 c.=
    + c.463C>T, c.471C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, sutural, punctate and cerulean opacities (CSPC) sutural and cerulean opacities 5-generation family, 33 affecteds JdD - - - 33 India - - - -
-/- 1_6 c.=
    + c.477C>A		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - 3-generation family, 2 affecteds (F) JdD - - - 2 Denmark - F - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, cerulean type (CCA2) - unrelated patient JdD familial, autosomal dominant - - 1 Switzerland - - - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
-/- 1_6 c.=
    + c.463C>T, c.471C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - 4-generation family, 19 affecteds JdD - - - 19 Chile - - - -
-/- 1_6 c.=
    + c.383A>T		 - r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, congenital nuclear with additional ring-shaped cortical opacity mother, has affected son and daugther Pauli 2007, JdD - - - 3 German - - - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant progressive polymorphic congenital coronary 5-generation family, 18 affecteds Li 2008, JdD - - - 18 China - - - -
-/- 1_6 c.=
    + c.(560G>A)		 - r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
-/- 1_6 c.=
    + c.(554_565del)		 - r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - - cataract, autosomal dominant - - JdD - - - 1 - - - - -
-/- 1_6 c.=
    + 10 others		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 1_6 c.=
    + c.559G>A		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant - 3-generation family, 6 affecteds JdD familial, autosomal dominant - - 6 Lesotho Basotho ? - -
-/- 1_6 c.=
    + c.463C>T		 - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant cortical, pulverulent opacities 4-generation family, 7 affecteds JdD familial, autosomal dominant - - 7 India - - - -
?/? 2 c.14A>T
    + c.193G>T, c.433C>T, c.440A>G, c.449C>T, c.449+9G>A		 - r.(?) p.(His5Leu) CRYBB2_00022 - germline (inherited) dbSNP-rs7291633 DNA SEQ 0.00 - - - - JdD - - - 1 - - - - -
-/? 3i c.173+120C>A
    + 10 others		 IVS3+120C>A r.(=) p.(=) CRYBB2_00018 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 3i c.173+120C>A
    + c.174-337G>A, c.449+8C>T, c.449+9G>A, CRYAA (3)		 IVS3+120C>A r.(=) p.(=) CRYBB2_00018 - germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 3i c.174-476G>A
    + c.-27+77A>G, c.174-337G>A, c.449+9G>A, c.483G>A, CRYGD (3), CRYGB (1), CRYGA (1)		 IVS3-476A>T r.(=) p.(=) CRYBB2_00004 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 3i c.174-337G>A
    + 10 others		 IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 3i c.174-337G>A
    + c.173+120C>A, c.449+8C>T, c.449+9G>A, CRYAA (3)		 IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 3i c.174-337G>A
    + c.-27+77A>G, c.174-476G>A, c.449+9G>A, c.483G>A, CRYGD (3), CRYGB (1), CRYGA (1)		 IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 3i c.174-337G>A
    + c.-27+77A>G, c.449+9G>A, c.449+82G>A, CRYGD (3), CRYGB (2)		 IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
?/? 4 c.193G>T
    + c.14A>T, c.433C>T, c.440A>G, c.449C>T, c.449+9G>A		 - r.(?) p.(Ala65Ser) CRYBB2_00023 - germline (inherited) dbSNP-rs16986560 DNA SEQ 0.00-0.05 - - - - JdD - - - 1 - - - - -
+/? 5 c.383A>T
    + c.=		 383A>T r.(?) p.(Asp128Val) CRYBB2_00009 not in 192 control chromosomes germline (inherited) Pauli 2007 DNA SEQ - TaiI+ cataract, congenital nuclear with additional ring-shaped cortical opacity mother, has affected son and daugther Pauli 2007, JdD - - - 3 German - - - -
+?/? 5 c.433C>T
    + 10 others		 - r.(?) p.(Arg145Trp) CRYBB2_00020 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5 c.433C>T
    + c.14A>T, c.193G>T, c.440A>G, c.449C>T, c.449+9G>A		 - r.(?) p.(Arg145Trp) CRYBB2_00020 origin probable gene conversion with CRYBB2P1 germline (inherited) dbSNP-rs2330991 DNA SEQ - - - - - JdD - - - 1 - - - - -
+?/? 5 c.440A>G
    + 10 others		 - r.(?) p.(Gln147Arg) CRYBB2_00010 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5 c.440A>G
    + c.14A>T, c.193G>T, c.433C>T, c.449C>T, c.449+9G>A		 - r.(?) p.(Gln147Arg) CRYBB2_00010 - germline (inherited) dbSNP-rs2330992 DNA SEQ - - - - - JdD - - - 1 - - - - -
+?/? 5 c.449C>T
    + 10 others		 - r.(spl?) p.(Tyr150Met) CRYBB2_00011 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5 c.449C>T
    + c.14A>T, c.193G>T, c.433C>T, c.440A>G, c.449+9G>A		 - r.(spl?) p.(Tyr150Met) CRYBB2_00011 - germline (inherited) dbSNP-rs4049504 DNA SEQ - - - - - JdD - - - 1 - - - - -
-/? 5i c.449+8C>T
    + c.173+120C>A, c.174-337G>A, c.449+9G>A, CRYAA (3)		 IVS5+8C>T r.(=) p.(=) CRYBB2_00016 - germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 5i c.449+9G>A
    + c.173+120C>A, c.174-337G>A, c.449+8C>T, CRYAA (3)		 IVS5+9G>A r.(=) p.(=) CRYBB2_00006 homozygous in father germline (inherited) Graw 2006 DNA SEQ - - cataract, congenital, autosomal dominant - - JdD - - - 1 Germany - - - -
-/? 5i c.449+9G>A IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ 4/5 - cataract - different families JdD - - - 4 India - - - -
-/? 5i c.449+9G>A
    + 10 others		 - r.(=) p.(=) CRYBB2_00006 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+9G>A
    + 10 others		 - r.(=) p.(=) CRYBB2_00006 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
?/? 5i c.449+9G>A
    + c.14A>T, c.193G>T, c.433C>T, c.440A>G, c.449C>T		 - r.(=) p.(=) CRYBB2_00006 - germline (inherited) dbSNP-rs55700037, rs57112959 DNA SEQ 0.67-1.0 - - - - JdD - - - 1 - - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.483G>A, CRYGB (3), CRYGA (2)		 IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, autosomal dominant variable lamellar / nuclear 4-generation family, 8 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.174-476G>A, c.174-337G>A, c.483G>A, CRYGD (3), CRYGB (1), CRYGA (1)		 IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.483G>A, CRYGB (1), CRYGA (1)		 IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular 2-generation family, 2 affecteds JdD - - - 1 India - - - -
-/? 5i c.449+9G>A
    + c.-27+77A>G, c.174-337G>A, c.449+82G>A, CRYGD (3), CRYGB (2)		 IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
-/? 5i c.449+27C>G
    + 10 others		 - r.(=) p.(=) CRYBB2_00012 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+61G>A
    + 10 others		 - r.(=) p.(=) CRYBB2_00013 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+61G>A
    + 10 others		 - r.(=) p.(=) CRYBB2_00013 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+66G>A
    + 10 others		 - r.(=) p.(=) CRYBB2_00014 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+66G>A
    + 10 others		 - r.(=) p.(=) CRYBB2_00014 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - affected mother and daugther JdD - - - 2 Denmark - F - -
-/? 5i c.449+82G>A IVS5+82G>A r.(?) p.(=) CRYBB2_00007 - germline (inherited) Santhiya 2004 DNA SEQ 1/5 - cataract - - JdD - - - 1 India - - - -
-/? 5i c.449+82G>A
    + c.-27+77A>G, c.174-337G>A, c.449+9G>A, CRYGD (3), CRYGB (2)		 IVS5+82G>A r.(?) p.(=) CRYBB2_00007 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
+/? 5i c.(450-2G>T) mouse r.(449_450ins450-57_450-1{450-2a>u}) p.(Thr150_Trp151ins17) CRYBB2_00000 O377 mouse, radiation induced germline (inherited) Ganguly 2008 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant, mouse zonular, progressive cataract - Ganguly 2008, JdD familial, autosomal dominant - - 1 - - - - -
+/? 6 c.453G>T
    + 10 others		 465G>T r.(?) p.(Trp151Cys) CRYBB2_00017 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
+/? 6 c.463C>T
    + c.=		 - r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+ cataract, congenital, cerulean type (CCA2) Cerulean blue 4-generation family, 18 affecteds (1 homozygous) JdD familial, autosomal dominant - - 17 United States - - - -
+/? 6 c.463C>T
    + c.=		 - r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes germline (inherited) Gill 2000, (OMIM 0001) DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
+/? 6 c.463C>T
    + c.=		 475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 6.26); not in 200 control chromosomes germline (inherited) Yao 2005 DNA SEQ - SpeI+ cataract, congenital, polymorphic progressive polymorphic 5-generation family, 19 affecteds JdD - - - 19 China - - - -
+/? 6 c.463C>T
    + c.=, c.471C>T		 475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage; origin probable gene conversion with CRYBP1 germline (inherited) Vanita 2001, (OMIM 0001) DNA SEQ - BfaI+ cataract, sutural, punctate and cerulean opacities (CSPC) sutural and cerulean opacities 5-generation family, 33 affecteds JdD - - - 33 India - - - -
+/? 6 c.463C>T
    + c.463C>T		 - r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+ cataract, congenital, cerulean type (CCA2) Cerulean blue homozygous case Fam ADCC-1 JdD familial, autosomal dominant, familial, autosomal dominant - - 1 United States - - - -
+/? 6 c.463C>T
    + c.463C>T		 - r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+ cataract, congenital, cerulean type (CCA2) Cerulean blue homozygous case Fam ADCC-1 JdD familial, autosomal dominant, familial, autosomal dominant - - 1 United States - - - -
+/? 6 c.463C>T
    + c.=		 - r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes germline (inherited) Gill 2000 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - unrelated patient JdD familial, autosomal dominant - - 1 Switzerland - - - -
+/? 6 c.463C>T
    + c.=		 - r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes germline (inherited) Gill 2000, (OMIM 0001) DNA SEQ - - cataract, Coppock-like (CCL) pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 4-generation family, 13 affecteds JdD familial, autosomal dominant - - 13 Switzerland - - - -
+/? 6 c.463C>T
    + c.=, c.471C>T		 475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 7.95); origin probable gene conversion with CRYBP1 germline (inherited) Bateman 2007 DNA SEQ - - cataract, autosomal dominant - 4-generation family, 19 affecteds JdD - - - 19 Chile - - - -
+/? 6 c.463C>T
    + c.=		 475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 2.11); not in 200 control chromosomes germline (inherited) Li 2008 DNA DHPLC, SEQ - - cataract, congenital, autosomal dominant progressive polymorphic congenital coronary 5-generation family, 18 affecteds Li 2008, JdD - - - 18 China - - - -
+/? 6 c.463C>T
    + c.=		 - r.(?) p.(Gln155*) CRYBB2_00002 not in 100 control chromosomes germline (inherited) Devi 2008 DNA SEQ - - cataract, autosomal dominant cortical, pulverulent opacities 4-generation family, 7 affecteds JdD familial, autosomal dominant - - 7 India - - - -
-/? 6 c.471C>T
    + c.=, c.463C>T		 483C>T r.(?) p.(=) CRYBB2_00019 origin probable gene conversion with CRYBP1 germline (inherited) Vanita 2001, (OMIM 0002) DNA SEQ - MspI- cataract, sutural, punctate and cerulean opacities (CSPC) sutural and cerulean opacities 5-generation family, 33 affecteds JdD - - - 33 India - - - -
-/? 6 c.471C>T
    + c.=, c.463C>T		 483C>T r.(?) p.(=) CRYBB2_00019 origin probable gene conversion with CRYBP1 germline (inherited) Bateman 2007 DNA SEQ - - cataract, autosomal dominant - 4-generation family, 19 affecteds JdD - - - 19 Chile - - - -
+/? 6 c.477C>A
    + c.=		 498C>A r.(?) p.(Tyr159*) CRYBB2_00021 - germline (inherited) Hansen 2009 DNA SEQ - - cataract, autosomal dominant - 3-generation family, 2 affecteds (F) JdD - - - 2 Denmark - F - -
-/? 6 c.483G>A
    + 10 others		 495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, cerulean type (CCA2) - 5-generation family, 9 affecteds JdD - - - 9 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, c.449+9G>A, CRYGB (3), CRYGA (2)		 495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, congenital, autosomal dominant variable lamellar / nuclear 4-generation family, 8 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, c.174-476G>A, c.174-337G>A, c.449+9G>A, CRYGD (3), CRYGB (1), CRYGA (1)		 495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, c.449+9G>A, CRYGB (1), CRYGA (1)		 495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular 2-generation family, 2 affecteds JdD - - - 1 India - - - -
-/? 6 c.483G>A
    + c.-27+77A>G, CRYGA (1), CRYGD (3)		 495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
+/? 6 c.(554_565del)
    + c.=		 mouse 577_588del r.(554_565del) p.(Gln185_Arg188del) CRYBB2_00000 variant in Philly mouse germline (inherited) Chambers 1991 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant - - JdD - - - 1 - - - - -
+/? 6 c.559G>A
    + c.=		 607G>A - p.(Val187Met) CRYBB2_00015 - germline (inherited) Mothobi 2009 DNA SEQ - NlaIII+ cataract, congenital, autosomal dominant - 3-generation family, 6 affecteds JdD familial, autosomal dominant - - 6 Lesotho Basotho ? - -
+/? 6 c.(560G>A)
    + c.(560G>A)		 mouse 553T>A r.(560G>A) p.(Val187Glu) CRYBB2_00000 variant in Aey2 mouse, ENU indiced; mapped by linkage germline (inherited) Graw 2001 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
+/? 6 c.(560G>A)
    + c.(560G>A)		 mouse 553T>A r.(560G>A) p.(Val187Glu) CRYBB2_00000 variant in Aey2 mouse, ENU indiced; mapped by linkage germline (inherited) Graw 2001 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
+/? 6 c.(560G>A)
    + c.=		 mouse 553T>A r.(560G>A) p.(Val187Glu) CRYBB2_00000 variant in Aey2 mouse, ENU indiced; mapped by linkage germline (inherited) Graw 2001 DNA, RNA RT-PCR, SEQ - - cataract, autosomal dominant progressive opacity - JdD - - - 1 - - - - -
1 - 82

Legend: [ CRYBB2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: Var_pub_as RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Protein CRYBB2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: ndicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Families/Patients: number of familes (patients) = number independent families (number affected patients), like 1 (2) for 1 family with 2 patients # Reported: Number of times this case has been reported Geographic origin: Geographic origin Ethnic origin: Ethnic origin Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Age_onset: age at onset first disease symptoms; 20y (ate age 20 years), 13m (13 months), 7d (7 days) Phenotype_onset: Phenotype_onset

  Powered by LOVD v.2.0 Build 35
Enabled modules: showmaxdbid, recaptcha, mutalyzer
©2004-2012 Leiden University Medical Center