LOVD - Variant listings for CRYGD

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Patient data (#0013622)
Disease cataract, autosomal dominant
Phenotype additional zonular, nuclear opacity; microcornea
Remarks 3-generation family, 6 affecteds
Reference JdD
Inheritance familial, autosomal dominant, familial, autosomal dominant
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 3
DNA change c.*12T>C   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 537C>T
RNA change r.(?)
Protein p.(=)
DB-ID CRYGD_00019
Variant remarks -
Origin germline (inherited)
Reference Santhiya 2004
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

2 entries in CRYGA

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.10-21G>A IVS1+82G>A r.(=) p.(=) CRYGA_00003 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3 c.443T>C 443C>T (L148P) r.(?) p.(Pro148Leu) CRYGA_00004 - 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 2 c.192T>C P64P r.(?) p.(=) CRYGB_00002 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3 c.331A>C - r.(?) p.(Ile111Leu) CRYGB_00001 - 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 - -