All variants in the PIGV gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1369C>T r.(?) p.(Leu457Phe) - pathogenic g.27124222C>T g.26797731C>T - - PIGV_000007 This mutation results in a substitution in the mannose transferase domain of the enzyme. Polyphen-2 modeling for pathogenicity of the p.Leu457Phe variant suggested that it would probably be damaging to protein structure and function. 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.1369C>T r.(?) p.(Leu457Phe) - likely benign g.27124222C>T g.26797731C>T - - PIGV_000007 PIGV-defective Chinese hamster ovary (CHO) cells, the altered protein restored the surface levels of GPI-APs as efficiently as the wild-type protein, suggesting no functional impairment of PIGV PubMed: Howard 2014 - - Germline no - - 0 - Philippe Campeau
?/. - c.1369C>T r.(?) p.(Leu457Phe) - VUS g.27124222C>T g.26797731C>T PIGV(NM_001202554.1):c.1369C>T (p.(Leu457Phe)) - PIGV_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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