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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 3 c.502C>T - r.(?) p.(Arg168Trp) g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Santhiya 2002, OMIM:var0003 - rs28931604 Germline - - - 0 - Johan den Dunnen
+/. 3 c.502C>T - r.(?) p.(Arg168Trp) g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Gonzalez-Huerta 2007 - rs28931604 Germline - - - 0 - Johan den Dunnen
+/. 3 c.502C>T - r.(?) p.(Arg168Trp) g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Devi 2008 - rs28931604 Germline - - - 0 - Johan den Dunnen
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