LOVD - Variant listings for CRYBB2

About this overview [Show]

Patient data (#0013569)
Disease cataract, autosomal dominant
Phenotype additional -
Remarks affected mother and daugther
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 2
Geographic origin Denmark
Ethnic origin -
Gender F
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Parent #2
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 5i
DNA change c.449+61G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(=)
Protein p.(=)
DB-ID CRYBB2_00013
Variant remarks -
Origin germline (inherited)
Reference Hansen 2009
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

11 entries in CRYBB2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Origin Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/- Parent #2 1_6 c.= - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - -
+?/? Parent #1 5 c.433C>T - r.(?) p.(Arg145Trp) CRYBB2_00020 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - -
+?/? Parent #1 5 c.440A>G - r.(?) p.(Gln147Arg) CRYBB2_00010 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - -
+?/? Parent #1 5 c.449C>T - r.(spl?) p.(Tyr150Met) CRYBB2_00011 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #1 5i c.449+9G>A - r.(=) p.(=) CRYBB2_00006 - germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #2 5i c.449+9G>A - r.(=) p.(=) CRYBB2_00006 - germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #1 5i c.449+27C>G - r.(=) p.(=) CRYBB2_00012 - germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #1 5i c.449+61G>A - r.(=) p.(=) CRYBB2_00013 - germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #2 5i c.449+61G>A - r.(=) p.(=) CRYBB2_00013 - germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #1 5i c.449+66G>A - r.(=) p.(=) CRYBB2_00014 - germline (inherited) Hansen 2009 DNA SEQ - -
-/? Parent #2 5i c.449+66G>A - r.(=) p.(=) CRYBB2_00014 - germline (inherited) Hansen 2009 DNA SEQ - -