All transcript variants in gene PIGV

Information The variants shown are described using the NM_017837.3 transcript reference sequence.

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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.1154A>C - r.(?) p.(His385Pro) g.27121679A>C g.26795188A>C - - PIGV_000002 This mutation affects a highly conserved residue of PIGV. This was absent in 200 200 healthy, unrelated central European individuals. PubMed: Krawtiz 2010 - rs267606951 Germline yes - - 0 - Philippe Campeau
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