ClinVar

NM_007327.4(GRIN1):c.2563G>A (p.Val855Ile)

Gene:

GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137163878 (on Assembly GRCh38)
• Chr9: 140058330 (on Assembly GRCh37)

Preferred name:

NM_007327.4(GRIN1):c.2563G>A (p.Val855Ile)

HGVS:

• NC_000009.12:g.137163878G>A
• NG_011507.1:g.29722G>A
• NM_000832.7:c.2563G>A
• NM_001185090.2:c.2626G>A
• NM_001185091.2:c.2626G>A
• NM_007327.4:c.2563G>AMANE SELECT
• NM_021569.4:c.2563G>A
• NP_000823.4:p.Val855Ile
• NP_001172019.1:p.Val876Ile
• NP_001172020.1:p.Val876Ile
• NP_015566.1:p.Val855Ile
• NP_067544.1:p.Val855Ile
• NC_000009.11:g.140058330G>A

This HGVS expression did not pass validation

Protein change:

V855I

Links:

dbSNP: rs367543118

NCBI 1000 Genomes Browser:

rs367543118

Molecular consequence:

• NM_000832.7:c.2563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185090.2:c.2626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185091.2:c.2626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007327.4:c.2563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021569.4:c.2563G>A - missense variant - [Sequence Ontology: SO:0001583]