LOVD - Variant listings for CRYBB2

About this overview [Show]

Patient data (#0013567)
Disease cataract, autosomal dominant
Phenotype additional progressive opacity
Remarks -
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin -
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 6
DNA change c.(560G>A)   (View in UCSC Genome Browser, Ensembl)
Var_pub_as mouse 553T>A
RNA change r.(560G>A)
Protein p.(Val187Glu)
DB-ID CRYBB2_00000
Variant remarks variant in Aey2 mouse, ENU indiced; mapped by linkage
Origin germline (inherited)
Reference Graw 2001
Detection/Template DNA, RNA
Detection/Technique RT-PCR, SEQ
Frequency -
RE-site -

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
-/- Parent #2 1_6 c.= - r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - -
+/? Parent #1 6 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 - -