All variants in the PIGV gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+?/. 2 c.615C>G r.(?) p.(Asn205Lys) - likely pathogenic g.27121140C>G g.26794649C>G NM_001202554:c.615C>G - PIGV_000017 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau
Legend   How to query