ClinVar

NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)

Gene:

PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35089402 (on Assembly GRCh38)
• Chr9: 35089399 (on Assembly GRCh37)

Preferred name:

NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)

HGVS:

• NC_000009.12:g.35089402C>T
• NG_031990.1:g.12200G>A
• NM_001201484.2:c.1867G>A
• NM_032634.4:c.3118G>AMANE SELECT
• NM_152850.4:c.1867G>A
• NP_001188413.1:p.Val623Ile
• NP_116023.2:p.Val1040Ile
• NP_690577.2:p.Val623Ile
• NC_000009.11:g.35089399C>T
• NM_032634.3:c.3118G>A

This HGVS expression did not pass validation

Protein change:

V1040I

Links:

dbSNP: rs149439295

NCBI 1000 Genomes Browser:

rs149439295

Molecular consequence:

• NM_001201484.2:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032634.4:c.3118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152850.4:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]