LOVD - Variant listings for CRYGD

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-/- 1_3 c.=
    + c.43C>T
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant punctate cataract, juvenile progressive 4-generation family, 11 affecteds JdD - - - 11 United States - - - -
-/- 1_3 c.=
    + c.43C>T
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant coralliform/nuclear 6-generation family, 25 affecteds JdD familial, autosomal dominant - - 25 China - - - -
-/- 1_3 c.=
    + c.70C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant lamellar affected father and daugther JdD - - - 2 India - - - -
-/- 1_3 c.=
    + c.70C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant cerulean 5-generation family, 19 affecteds JdD familial, autosomal dominant - - 19 Morocco - - - -
-/- 1_3 c.=
    + c.70C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant coral-shaped, coralliform 4-generation family, 8 affecteds JdD familial, autosomal dominant - - 8 United States Caucasian - - -
-/- 1_3 c.=
    + c.70C>T
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant nonnuclear polymorphic congenital cataract 7-generation family, 77 affecteds JdD familial, autosomal dominant - - 77 Mongolia Asian, central; white - - -
-/- 1_3 c.=
    + c.109C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant nuclear golden crystal 4-generation family, 7 affecteds JdD familial, autosomal dominant - - 7 China - - - -
-/- 1_3 c.=
    + c.176G>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant aculeiform 4-generation family, 5 affecteds JdD - - - 5 Switzerland - - - -
-/- 1_3 c.=
    + c.320A>C
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) Messina-Baas 2006 DNA SEQ - - cataract, autosomal dominant nuclear affected brother and sister, parents not a carrier JdD - - - 2 Mexico - - - -
-/- 1_3 c.=
    + c.402C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant total or nearly total; microcornea affected mother and daugther JdD - - - 2 Denmark - - - -
-/- 1_3 c.=
    + c.470G>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant central nuclear 3-generation family, affected father and daugther JdD - - - 2 India - - - -
-/- 1_3 c.=
    + c.176G>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant aculeiform 3-generation family, 2 affecteds JdD - - - 2 Switzerland - - - -
-/- 1_3 c.=
    + c.176G>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant aculeiform 2-generation family, 2 affecteds JdD - - - 2 Switzerland - - - -
-/- 1_3 c.=
    + c.109C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant protein crystallisation - JdD - - - 1 Czech Republic - - - -
-/- 1_3 c.=
    + c.494delG
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant - 3-generation family, 7 affecteds JdD - - - 7 China - - - -
-/- 1_3 c.=
    + c.181G>T
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant coralliform cataracts 4-generation family, 11 affecteds JdD familial, autosomal dominant - - 11 China - - - -
-/- 1_3 c.=
    + c.418C>T
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant - 3-generation family, 15 affecteds JdD - - - 5 India - - - -
-/- 1_3 c.=
    + c.51T>C, c.168C>G, c.285A>G, CRYAA (1)
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant nuclear affected father, dauther and son JdD - - - 3 Brazil - - - -
-/- 1_3 c.=
    + c.43C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant coralliform 3-generation family, 8 affecteds JdD - - - 8 China - - - -
-/- 1_3 c.=
    + c.70C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, congenital, autosomal dominant coralliform 4-generation family, 7 affecteds JdD - - - 7 China - - - -
-/- 1_3 c.=
    + c.70C>A
- r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - - cataract, autosomal dominant - 5-generation family, 21 affecteds JdD familial, autosomal dominant - - 21 United States - - - -
+/? 2 c.43C>A
    + c.=
- r.(?) p.(Arg15Ser) CRYGD_00012 mapped by linkage; not in 206 control chromosomes germline (inherited) Zhang 2009 DNA SEQ - - cataract, congenital, autosomal dominant coralliform 3-generation family, 8 affecteds JdD - - - 8 China - - - -
+/? 2 c.43C>T
    + c.=
C>T r.(?) p.(Arg15Cys) CRYGD_00001 mapped by linkage, not in 400 control chromosomes germline (inherited) Stephan 1999, (OMIM 0001) DNA SSCA, SEQ - HaeIII- cataract, autosomal dominant punctate cataract, juvenile progressive 4-generation family, 11 affecteds JdD - - - 11 United States - - - -
+/? 2 c.43C>T
    + c.=
C34T (R14C) r.(?) p.(Arg15Cys) CRYGD_00001 mapped by linkage; not in 200 control chromosomes germline (inherited) Gu 2006 DNA DHPLC, SEQ - - cataract, autosomal dominant coralliform/nuclear 6-generation family, 25 affecteds JdD familial, autosomal dominant - - 25 China - - - -
?/? 2 c.43C>T
    + c.51T>C, c.70C>A, c.70C>T, c.109C>A, c.176G>A, c.285A>G, c.470G>A
- r.(?) p.(Arg15Cys) CRYGD_00001 - germline (inherited) dbSNP-rs121909595 DNA SEQ - - - - - JdD - - - 1 - - - - -
?/? 2 c.51T>C
    + c.43C>T, c.70C>T, c.70C>A, c.109C>A, c.176G>A, c.285A>G, c.470G>A
- r.(?) p.(=) CRYGD_00007 - germline (inherited) dbSNP-rs2242074 DNA SEQ 0.40-0.78 - - - - JdD - - - 1 - - - - -
-/? 2 c.51T>C
    + c.?
T51C r.(?) p.(=) CRYGD_00007 not seggregating with disease germline (inherited) - DNA SEQ - - - - - JdD - - - 1 Mongolia Asian, central; white - - -
-/? 2 c.51T>C
    + c.=, c.168C>G, c.285A>G, CRYAA (1)
Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santana 2009 DNA SEQ - - cataract, autosomal dominant nuclear affected father, dauther and son JdD - - - 3 Brazil - - - -
-/? 2 c.51T>C
    + c.285A>G, CRYGC (1), CRYAA (1)
Y17Y r.(?) p.(=) CRYGD_00007 variant in family germline (inherited) Santana 2009 DNA SEQ - - cataract - - JdD - - - 5 Brazil - - - -
-/? 2 c.51T>C Y17Y r.(?) p.(=) CRYGD_00007 7/11 families tested germline (inherited) Santana 2009 DNA SEQ 7/11 - cataract - - JdD - - - 7 Brazil - - - -
-/? 2 c.51T>C
    + c.285A>G, c.*12T>C, CRYGA (2), CRYGB (2)
Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular, nuclear opacity; microcornea 3-generation family, 6 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 2 c.51T>C
    + c.285A>G, c.*12T>C, CRYGB (1), CRYBB2 (5), CRYGA (1)
Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 2 c.51T>C
    + c.285A>G, c.*12T>C, CRYBB2 (2), CRYGA (1)
Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
-/? 2 c.51T>C
    + c.285A>G, c.*12T>C, CRYBB2 (4), CRYGB (2)
Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
+/? 2 c.70C>A
    + c.=
P23T r.(?) p.(Pro24Thr) CRYGD_00002 - germline (inherited) Santhiya 2002, (OMIM 0004) DNA SEQ - - cataract, autosomal dominant lamellar affected father and daugther JdD - - - 2 India - - - -
+/? 2 c.70C>A
    + c.=
305C>A (P23T) r.(?) p.(Pro24Thr) CRYGD_00002 mapped by linkage; not in 200 control chromosomes germline (inherited) Nandrot 2003, (OMIM 0004) DNA SEQ - - cataract, autosomal dominant cerulean 5-generation family, 19 affecteds JdD familial, autosomal dominant - - 19 Morocco - - - -
+/? 2 c.70C>A
    + c.=
C>A (P23T) r.(?) p.(Pro24Thr) CRYGD_00002 linked by mapping (LOD score 3.81); not in 340 control chromosomes germline (inherited) Mackay 2004 DNA SEQ - - cataract, autosomal dominant coral-shaped, coralliform 4-generation family, 8 affecteds JdD familial, autosomal dominant - - 8 United States Caucasian - - -
+/? 2 c.70C>A - r.(?) p.Pro24Thr CRYGD_00002 expression cloning, less soluble in HLE B-3 cells germline (inherited) Mackay 2004 DNA SEQ - - in vitro - - JdD - - - 1 - - - - -
?/? 2 c.70C>A
    + c.43C>T, c.51T>C, c.70C>T, c.109C>A, c.176G>A, c.285A>G, c.470G>A
- r.(?) p.(Pro24Thr) CRYGD_00002 - germline (inherited) dbSNP-rs28931605 DNA SEQ - - - - - JdD - - - 1 - - - - -
+/? 2 c.70C>A
    + c.=
- r.(?) p.Pro24Thr CRYGD_00002 mapped by linkage; not in 206 control chromosomes germline (inherited) Zhang 2009 DNA SEQ - - cataract, congenital, autosomal dominant coralliform 4-generation family, 7 affecteds JdD - - - 7 China - - - -
+/? 2 c.70C>A
    + c.=
305C>A (P23T) r.(?) p.(Pro24Thr) CRYGD_00002 mapped by linkage (LOD score 3.72); not in 200 control chromosomes germline (inherited) Burdon 2004 DNA SSCA, SEQ - - cataract, autosomal dominant - 5-generation family, 21 affecteds JdD familial, autosomal dominant - - 21 United States - - - -
+/? 2 c.70C>T
    + c.=
- r.(?) p.(Pro24Ser) CRYGD_00003 mapped by linkage; not in 512 control chromosomes germline (inherited) Plotnikova 2007, (OMIM 0007) DNA SEQ - - cataract, congenital, autosomal dominant nonnuclear polymorphic congenital cataract 7-generation family, 77 affecteds JdD familial, autosomal dominant - - 77 Mongolia Asian, central; white - - -
?/? 2 c.70C>T
    + c.43C>T, c.51T>C, c.70C>A, c.109C>A, c.176G>A, c.285A>G, c.470G>A
- r.(?) p.(Pro24Ser) CRYGD_00003 - germline (inherited) dbSNP-rs28931605 DNA SEQ - - - - - JdD - - - 1 - - - - -
+/? 2 c.109C>A
    + c.=
- r.(?) p.(Arg37Ser) CRYGD_00005 - germline (inherited) Gu 2005 DNA SEQ - - cataract, autosomal dominant nuclear golden crystal 4-generation family, 7 affecteds JdD familial, autosomal dominant - - 7 China - - - -
?/? 2 c.109C>A
    + c.43C>T, c.51T>C, c.70C>T, c.70C>A, c.176G>A, c.285A>G, c.470G>A
- r.(?) p.(Arg37Ser) CRYGD_00005 - germline (inherited) dbSNP-rs121909597 DNA SEQ - - - - - JdD - - - 1 - - - - -
+/? 2 c.109C>A
    + c.=
R36S r.(?) p.Arg37Ser CRYGD_00005 - germline (inherited) Kmoch 2000, (OMIM 0003) DNA, protein SEQ, MS - - cataract, autosomal dominant protein crystallisation - JdD - - - 1 Czech Republic - - - -
+/? 2 c.168C>G
    + c.=, c.51T>C, c.285A>G, CRYAA (1)
- r.(?) p.(Tyr56*) CRYGD_00011 - germline (inherited) Santana 2009 DNA SEQ - - cataract, autosomal dominant nuclear affected father, dauther and son JdD - - - 3 Brazil - - - -
+/? 2 c.176G>A
    + c.=
411G>A (R58H) r.(?) p.(Arg59His) CRYGD_00004 mapped by linkage, not in 210 control chromosomes germline (inherited) Heon 1999, (OMIM 0002) DNA SEQ - - cataract, autosomal dominant aculeiform 4-generation family, 5 affecteds JdD - - - 5 Switzerland - - - -
+/? 2 c.176G>A
    + c.=
411G>A (R58H) r.(?) p.(Arg59His) CRYGD_00004 mapped by linkage, not in 210 control chromosomes germline (inherited) Heon 1999, (OMIM 0002) DNA SEQ - - cataract, autosomal dominant aculeiform 3-generation family, 2 affecteds JdD - - - 2 Switzerland - - - -
+/? 2 c.176G>A
    + c.=
411G>A (R58H) r.(?) p.(Arg59His) CRYGD_00004 mapped by linkage, not in 210 control chromosomes germline (inherited) Heon 1999, (OMIM 0002) DNA SEQ - - cataract, autosomal dominant aculeiform 2-generation family, 2 affecteds JdD - - - 2 Switzerland - - - -
?/? 2 c.176G>A
    + c.43C>T, c.51T>C, c.70C>T, c.70C>A, c.109C>A, c.285A>G, c.470G>A
- r.(?) p.(Arg59His) CRYGD_00004 - germline (inherited) dbSNP-rs121909596 DNA SEQ - - - - - JdD - - - 1 - - - - -
+/? 2 c.181G>T
    + c.=
- r.(?) p.(Gly61Cys) CRYGD_00009 mapped by linkage (LOD score 3.31); not in 100 control chromosomes germline (inherited) Li 2008 DNA DHPLC, SEQ - - cataract, autosomal dominant coralliform cataracts 4-generation family, 11 affecteds JdD familial, autosomal dominant - - 11 China - - - -
+/+ 2 c.229C>A - c.229C>A p.Arg77Ser CRYGD_00016 - germline (inherited) Roshan 2010 DNA ? 100 Alu1 Cataract at the age of 11 years. Right eye showed the phenotype as anterior polar with coronary cataract and left eye with only anterior polar cataract with a progressive loss of vision. Other ocular examination showed normal ocular movements with clear cornea. Anterior polar coronary Roshan 2010, Denmark:Copenhagen familial, autosomal dominant - Familiar 1 India India ? - -
-/? 2i c.252+30C>T
    + c.252+83T>C, CRYAA (5)
IVS2+30 (517T>C) r.(?) p.(=) CRYGD_00017 - germline (inherited) Santhiya 2006 DNA SEQ - - cataract, congenital, autosomal dominant nonsyndromic presenile 4-generation family, 3 affected females, 1 male JdD - - - 4 India - F - -
-/? 2i c.252+83T>C
    + c.252+30C>T, CRYAA (5)
IVS2+83 (570C>T) r.(?) p.(=) CRYGD_00018 - germline (inherited) Santhiya 2006 DNA SEQ - - cataract, congenital, autosomal dominant nonsyndromic presenile 4-generation family, 3 affected females, 1 male JdD - - - 4 India - F - -
-/? 3 c.?
    + c.51T>C
T392C r.(?) p.(=) CRYGD_00000 not seggregating with disease germline (inherited) - DNA SEQ - - - - - JdD - - - 1 Mongolia Asian, central; white - - -
?/? 3 c.285A>G
    + c.43C>T, c.51T>C, c.70C>T, c.70C>A, c.109C>A, c.176G>A, c.470G>A
- r.(?) p.(=) CRYGD_00006 - germline (inherited) dbSNP-rs2305430 DNA SEQ 0.540.93 - - - - JdD - - - 1 - - - - -
-/? 3 c.285A>G
    + c.=, c.51T>C, c.168C>G, CRYAA (1)
R95R r.(?) p.(=) CRYGD_00006 - germline (inherited) Santana 2009 DNA SEQ - - cataract, autosomal dominant nuclear affected father, dauther and son JdD - - - 3 Brazil - - - -
-/? 3 c.285A>G
    + c.51T>C, CRYGC (1), CRYAA (1)
R95R r.(?) p.(=) CRYGD_00006 variant in family germline (inherited) Santana 2009 DNA SEQ - - cataract - - JdD - - - 5 Brazil - - - -
-/? 3 c.285A>G R95R r.(?) p.(=) CRYGD_00006 9/11 families tested germline (inherited) Santana 2009 DNA SEQ 9/11 - cataract - - JdD - - - 9 Brazil - - - -
-/? 3 c.285A>G
    + c.51T>C, c.*12T>C, CRYGA (2), CRYGB (2)
285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular, nuclear opacity; microcornea 3-generation family, 6 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 3 c.285A>G
    + c.51T>C, c.*12T>C, CRYBB2 (5), CRYGB (1), CRYGA (1)
285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 3 c.285A>G
    + c.51T>C, c.*12T>C, CRYBB2 (2), CRYGA (1)
285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
-/? 3 c.285A>G
    + c.51T>C, c.*12T>C, CRYBB2 (4), CRYGB (2)
285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
-/? 3 c.285A>G
    + c.*12T>C, CRYGA (1), CRYGB (1)
285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive lamellar family, 2 affecteds JdD - - - 1 India - - - -
+/? 3 c.320A>C
    + c.=
- r.(?) p.(Glu107Ala) CRYGD_00013 not in 340 control chromosomes; probable germline mosaicism mother germline (inherited) Messina-Baas 2006 DNA SEQ - - cataract, autosomal dominant nuclear affected brother and sister, parents not a carrier JdD - - - 2 Mexico - - - -
+/? 3 c.402C>A
    + c.=
418C>A r.(?) p.(Tyr134*) CRYGD_00015 not in 100 control chromosomes germline (inherited) Hansen 2007, Hansen 2009 DNA SEQ - - cataract, congenital, autosomal dominant total or nearly total; microcornea affected mother and daugther JdD - - - 2 Denmark - - - -
+/? 3 c.418C>T
    + c.=
- r.(?) p.(Arg140*) CRYGD_00010 - germline (inherited) Devi 2008 DNA SEQ - - cataract, congenital, autosomal dominant - 3-generation family, 15 affecteds JdD - - - 5 India - - - -
+/? 3 c.470G>A
    + c.=
- r.(?) p.(Trp157*) CRYGD_00014 - germline (inherited) Santhiya 2002, (OMIM 0005) DNA SEQ - - cataract, autosomal dominant central nuclear 3-generation family, affected father and daugther JdD - - - 2 India - - - -
?/? 3 c.470G>A
    + c.43C>T, c.51T>C, c.70C>T, c.70C>A, c.109C>A, c.176G>A, c.285A>G
- r.(?) p.(Trp157*) CRYGD_00014 - germline (inherited) dbSNP-rs121909598 DNA SEQ - - - - - JdD - - - 1 - - - - -
+/? 3 c.494delG
    + c.=
- r.(?) p.(Gly165Alafs*3) CRYGD_00008 not in 106 control chromosomes germline (inherited) Zhang 2007 DNA SEQ - - cataract, congenital, autosomal dominant - 3-generation family, 7 affecteds JdD - - - 7 China - - - -
+/? 3 c.494delG - r.(?) p.Gly165Alafs*3 CRYGD_00008 expression cloning COS-7 cells significantly reduced solubility, colocalized nuclear envolope with LMNA germline (inherited) Zhang 2007 DNA SEQ - - in vitro - - JdD - - - 1 - - - - -
-/? 3 c.*12T>C
    + c.51T>C, c.285A>G, CRYGA (2), CRYGB (2)
537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant zonular, nuclear opacity; microcornea 3-generation family, 6 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
-/? 3 c.*12T>C
    + c.51T>C, c.285A>G, CRYBB2 (5), CRYGB (1), CRYGA (1)
537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive - family, 3 affecteds JdD familial, autosomal recessive, familial, autosomal recessive - - 1 India - - - -
-/? 3 c.*12T>C
    + c.51T>C, c.285A>G, CRYBB2 (2), CRYGA (1)
537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior polar/lenticonus, capsular dehiscence family, 1 affected JdD - - - 1 India - - - -
-/? 3 c.*12T>C
    + c.51T>C, c.285A>G, CRYBB2 (4), CRYGB (2)
537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive posterior subcapsula family, 2 affecteds JdD - - - 1 India - - - -
-/? 3 c.*12T>C
    + c.285A>G, CRYGA (1), CRYGB (1)
537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal recessive lamellar family, 2 affecteds JdD - - - 1 India - - - -
-/? 3 c.*39A>T
    + CRYGA (2), CRYGB (2)
564A>T r.(?) p.(=) CRYGD_00020 - germline (inherited) Santhiya 2004 DNA SEQ - - cataract, autosomal dominant lamellar (stationary, non-progressive) 3-generation family, 16 affecteds JdD familial, autosomal dominant, familial, autosomal dominant - - 1 India - - - -
1 - 78

Amino acid numbering includes the N-terminal methionine as number 1. Most annotations of CRYGD are numbered from Gly at position 2, corresponding to the processed N-terminal methionine-lacking CRYGD-protein

Legend: [ CRYGD 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 CRYGD 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