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.
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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     
+/. - c.154_163del pathogenic r.(?) p.(Gln52Asnfs*48) g.208994254_208994263del - CRYGC:NM_020989.3:c.154_163del (Gln52Asnfs*48) - CRYGC_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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