All variants in the PIGV gene

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.766C>A r.(?) p.(Gln256Lys) - pathogenic g.27121291C>A g.26794800C>A - - PIGV_000003 This mutations results in a substitution in a highly conserved residue. The mutation was not found in 200 controls. PubMed: Krawtiz 2010 - rs267606952 Germline yes - - 0 - Philippe Campeau
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