All transcript variants in gene CRYGC

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020989.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 3 c.357C>T - r.(?) p.(=) g.208993095G>A g.208128371G>A C>T S119S - CRYGC_000007 not in 100 control chromosomes; 1/11 families tested (5/7 affecteds) PubMed: Santana 2009 - - Germline - - 01/11/15 0 - Johan den Dunnen
Legend