LOVD - Variant listings for CRYBB2

About this overview [Show]

Patient data (#0013626)
Disease cataract, autosomal recessive
Phenotype additional posterior subcapsula
Remarks family, 2 affecteds
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin India
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 3i
DNA change c.174-337G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as IVS3-337G>A
RNA change r.(=)
Protein p.(=)
DB-ID CRYBB2_00005
Variant remarks -
Origin germline (inherited)
Reference Santhiya 2004
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

4 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
-/? Unknown 1i c.-27+77A>G IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3i c.174-337G>A IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 5i c.449+9G>A IVS5+9G>A r.(?) p.(=) CRYBB2_00006 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 5i c.449+82G>A IVS5+82G>A r.(?) p.(=) CRYBB2_00007 - germline (inherited) Santhiya 2004 DNA SEQ - -

2 entries in CRYGB

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
-/? Unknown 1 -47T>C c.-47C>T r.(=) p.(=) CRYGB_00003 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 2 c.192T>C P64P r.(?) p.(=) CRYGB_00002 - germline (inherited) Santhiya 2004 DNA SEQ - -

3 entries in CRYGD

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
-/? Unknown 2 c.51T>C Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3 c.285A>G 285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3 c.*12T>C 537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - -