ClinVar

NM_001134407.3(GRIN2A):c.1959G>T (p.Met653Ile)

Gene:

GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9829471 (on Assembly GRCh38)
• Chr16: 9923328 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.1959G>T (p.Met653Ile)

HGVS:

• NC_000016.10:g.9829471C>A
• NG_011812.2:g.358284G>T
• NM_000833.5:c.1959G>T
• NM_001134407.3:c.1959G>TMANE SELECT
• NM_001134408.2:c.1959G>T
• NP_000824.1:p.Met653Ile
• NP_001127879.1:p.Met653Ile
• NP_001127880.1:p.Met653Ile
• NC_000016.9:g.9923328C>A

This HGVS expression did not pass validation

Protein change:

M653I

Links:

dbSNP: rs2141312277

NCBI 1000 Genomes Browser:

rs2141312277

Molecular consequence:

• NM_000833.5:c.1959G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134407.3:c.1959G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134408.2:c.1959G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1