ClinVar

NM_001083619.3(GRIA2):c.2446G>A (p.Val816Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

• Chr4: 157362838 (on Assembly GRCh38)
• Chr4: 158283990 (on Assembly GRCh37)

Preferred name:

NM_001083619.3(GRIA2):c.2446G>A (p.Val816Ile)

HGVS:

• NC_000004.12:g.157362838G>A
• NM_000826.6:c.2446G>A
• NM_001083619.3:c.2446G>AMANE SELECT
• NM_001083620.3:c.2305G>A
• NM_001379000.3:c.2305G>A
• NM_001379001.3:c.2305G>A
• NP_000817.5:p.Val816Ile
• NP_001077088.2:p.Val816Ile
• NP_001077089.2:p.Val769Ile
• NP_001365929.3:p.Val769Ile
• NP_001365930.3:p.Val769Ile
• NC_000004.11:g.158283990G>A
• NM_001083619.1:c.2446G>A

This HGVS expression did not pass validation

Protein change:

V769I

Molecular consequence:

• NM_000826.6:c.2446G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083619.3:c.2446G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083620.3:c.2305G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379000.3:c.2305G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379001.3:c.2305G>A - missense variant - [Sequence Ontology: SO:0001583]