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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
?/. 2 c.143G>A - r.(?) p.(Arg48His) g.208994274C>T g.208129550C>T - - CRYGC_000004 - PubMed: Santhiya 2002 - - Germline - 03/17/15 HgaI 0 - Johan den Dunnen
?/. 2 c.143G>A - r.(?) p.(Arg48His) g.208994274C>T g.208129550C>T - - CRYGC_000004 not in 240 control chromosomes ESHG2010 Gonzalez-Huerta P12.034 - - Germline - - HgaI 0 - Johan den Dunnen
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