LOVD - Variant listings for CRYBB2

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Patient data (#0013552)
Disease cataract, congenital, cerulean type (CCA2)
Phenotype additional Cerulean blue
Remarks homozygous case Fam ADCC-1
Reference JdD
Inheritance familial, autosomal dominant, familial, autosomal dominant
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin United States
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 6
DNA change c.463C>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(Gln155*)
DB-ID CRYBB2_00002
Variant remarks not in 62 control chromosomes
Origin germline (inherited)
Reference Litt 1997, (OMIM 0001)
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site BfaI+

2 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
+/? Paternal (confirmed) 6 c.463C>T - r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+
+/? Maternal (confirmed) 6 c.463C>T - r.(?) p.(Gln155*) CRYBB2_00002 not in 62 control chromosomes germline (inherited) Litt 1997, (OMIM 0001) DNA SEQ - BfaI+