All variants in the PIGV gene

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)     

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.439C>T r.(?) p.(Gln147Ter) - pathogenic g.27120964C>T g.26794473C>T PIGV(NM_001202554.1):c.439C>T (p.Q147*), PIGV(NM_001202554.2):c.439C>T (p.Q147*) - PIGV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.439C>T r.(?) p.(Gln147Ter) - pathogenic g.27120964C>T - PIGV(NM_001202554.1):c.439C>T (p.Q147*), PIGV(NM_001202554.2):c.439C>T (p.Q147*) - PIGV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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