All transcript variants in gene PIGV

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

14 entries on 1 page. Showing entries 1 - 14.
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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>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 This mutation affectis an evolutionarily highly conserved residue. 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>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 This mutation affects a highly conserved residue, it was not found in 200 healthy controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression. PubMed: Krawtiz 2010 - - Germline yes - - 0 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 - - - rs139073416 Germline ? - - 0 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 - PubMed: Horn 2011 - rs139073416 Germline ? - - 0 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 Alters a conserved residue. It was not found in 4000 exomes. PubMed: Thompson 2012 - rs139073416 Germline yes - - 0 - Philippe Campeau
+?/. 3 c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Reynolds et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
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