ClinVar

NM_001083619.3(GRIA2):c.1123A>G (p.Ile375Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

• Chr4: 157333321 (on Assembly GRCh38)
• Chr4: 158254473 (on Assembly GRCh37)

Preferred name:

NM_001083619.3(GRIA2):c.1123A>G (p.Ile375Val)

HGVS:

• NC_000004.12:g.157333321A>G
• NM_000826.6:c.1123A>G
• NM_001083619.3:c.1123A>GMANE SELECT
• NM_001083620.3:c.982A>G
• NM_001379000.3:c.982A>G
• NM_001379001.3:c.982A>G
• NP_000817.5:p.Ile375Val
• NP_001077088.2:p.Ile375Val
• NP_001077089.2:p.Ile328Val
• NP_001365929.3:p.Ile328Val
• NP_001365930.3:p.Ile328Val
• NC_000004.11:g.158254473A>G

This HGVS expression did not pass validation

Protein change:

I328V

Molecular consequence:

• NM_000826.6:c.1123A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083619.3:c.1123A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083620.3:c.982A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379000.3:c.982A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379001.3:c.982A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1