ClinVar

NM_017837.4(PIGV):c.348G>A (p.Leu116=)

Gene:

PIGV:phosphatidylinositol glycan anchor biosynthesis class V [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 26794382 (on Assembly GRCh38)
• Chr1: 27120873 (on Assembly GRCh37)

Preferred name:

NM_017837.4(PIGV):c.348G>A (p.Leu116=)

HGVS:

• NC_000001.11:g.26794382G>A
• NG_028133.1:g.11420G>A
• NM_001202554.2:c.348G>A
• NM_001374478.1:c.348G>A
• NM_001374480.1:c.348G>A
• NM_001374481.1:c.348G>A
• NM_001374482.1:c.348G>A
• NM_001374483.1:c.-34G>A
• NM_001374484.1:c.172+176G>A
• NM_001374485.1:c.172+176G>A
• NM_001374486.1:c.79-3181G>A
• NM_017837.4:c.348G>AMANE SELECT
• NP_001189483.1:p.Leu116=
• NP_001361407.1:p.Leu116=
• NP_001361409.1:p.Leu116=
• NP_001361410.1:p.Leu116=
• NP_001361411.1:p.Leu116=
• NP_060307.2:p.Leu116=
• NP_060307.2:p.Leu116=
• NC_000001.10:g.27120873G>A
• NM_017837.3:c.348G>A
• NR_164651.1:n.846G>A
• p.Leu116Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs148662665

NCBI 1000 Genomes Browser:

rs148662665

Molecular consequence:

• NM_001374483.1:c.-34G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374484.1:c.172+176G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374485.1:c.172+176G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374486.1:c.79-3181G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_164651.1:n.846G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001202554.2:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374478.1:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374480.1:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374481.1:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374482.1:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017837.4:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]