All variants in the PIGV gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.494C>A r.(?) p.(Ala165Glu) - pathogenic g.27121019C>A g.26794528C>A - - PIGV_000006 First report of this mutation. This mutation alters a residue in PIGV that is well conserved. It was not detected in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.494C>A r.(?) p.(Ala165Glu) - likely pathogenic g.27121019C>A g.26794528C>A PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.494C>A r.(?) p.(Ala165Glu) - pathogenic g.27121019C>A g.26794528C>A PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.494C>A r.(?) p.(Ala165Glu) - likely pathogenic g.27121019C>A g.26794528C>A PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.494C>A r.(?) p.(Ala165Glu) - likely pathogenic g.27121019C>A g.26794528C>A PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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