ClinVar

NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr)

Gene:

GRIA2:glutamate ionotropic receptor AMPA type subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

• Chr4: 157341346 (on Assembly GRCh38)
• Chr4: 158262498 (on Assembly GRCh37)

Preferred name:

NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr)

HGVS:

• NC_000004.12:g.157341346G>A
• NM_000826.6:c.1927G>A
• NM_001083619.3:c.1927G>AMANE SELECT
• NM_001083620.3:c.1786G>A
• NM_001379000.3:c.1786G>A
• NM_001379001.3:c.1786G>A
• NP_000817.5:p.Ala643Thr
• NP_001077088.2:p.Ala643Thr
• NP_001077089.2:p.Ala596Thr
• NP_001365929.3:p.Ala596Thr
• NP_001365930.3:p.Ala596Thr
• NC_000004.11:g.158262498G>A

This HGVS expression did not pass validation

Protein change:

A596T

Links:

dbSNP: rs2126951757

NCBI 1000 Genomes Browser:

rs2126951757

Molecular consequence:

• NM_000826.6:c.1927G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083619.3:c.1927G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083620.3:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379000.3:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379001.3:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]