ClinVar

NM_017837.4(PIGV):c.420G>T (p.Leu140=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 26794454 (on Assembly GRCh38)
• Chr1: 27120945 (on Assembly GRCh37)

Preferred name:

NM_017837.4(PIGV):c.420G>T (p.Leu140=)

HGVS:

• NC_000001.11:g.26794454G>T
• NG_028133.1:g.11492G>T
• NG_028133.2:g.12402G>T
• NM_001202554.2:c.420G>T
• NM_001374478.1:c.420G>T
• NM_001374480.1:c.420G>T
• NM_001374481.1:c.420G>T
• NM_001374482.1:c.420G>T
• NM_001374483.1:c.39G>T
• NM_001374484.1:c.172+248G>T
• NM_001374485.1:c.172+248G>T
• NM_001374486.1:c.79-3109G>T
• NM_017837.4:c.420G>TMANE SELECT
• NP_001189483.1:p.Leu140=
• NP_001361407.1:p.Leu140=
• NP_001361409.1:p.Leu140=
• NP_001361410.1:p.Leu140=
• NP_001361411.1:p.Leu140=
• NP_001361412.1:p.Leu13=
• NP_060307.2:p.Leu140=
• NC_000001.10:g.27120945G>T
• NR_164651.1:n.918G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001374484.1:c.172+248G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374485.1:c.172+248G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374486.1:c.79-3109G>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_164651.1:n.918G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001202554.2:c.420G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374478.1:c.420G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374480.1:c.420G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374481.1:c.420G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374482.1:c.420G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374483.1:c.39G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017837.4:c.420G>T - synonymous variant - [Sequence Ontology: SO:0001819]