All transcript variants in gene PIGV

Information The variants shown are described using the NM_017837.3 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     
+/. - c.467G>A - r.(?) p.(Cys156Tyr) g.27120992G>A g.26794501G>A - - PIGV_000005 This mutation was not detected in 150 control samples. This missense mutation affects a conserved residue. PubMed: Horn 2011 - - Germline yes - - 0 - Philippe Campeau
+/. - c.467G>A - r.(?) p.(Cys156Tyr) g.27120992G>A g.26794501G>A - - PIGV_000005 This mutation alters a residues in PIGV that is well conserved adn it was not found in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - Philippe Campeau
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