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.1022C>T - r.(?) p.(Ala341Val) g.27121547C>T g.26795056C>T - - PIGV_000004 This mutation affects a highly conserved residue. This was absent in 200 controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression. PubMed: Krawtiz 2010 - rs139073416 Germline yes - - 0 - Philippe Campeau
+/. - c.1022C>T - r.(?) p.(Ala341Val) g.27121547C>T g.26795056C>T - - PIGV_000004 This mutation affects a conserved residue. it was not not detected 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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