ClinVar

NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9764635 (on Assembly GRCh38)
• Chr16: 9858492 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)

HGVS:

• NC_000016.10:g.9764635C>T
• NG_011812.2:g.423120G>A
• NM_000833.5:c.2909G>A
• NM_001134407.3:c.2909G>AMANE SELECT
• NM_001134408.2:c.2909G>A
• NP_000824.1:p.Arg970Gln
• NP_001127879.1:p.Arg970Gln
• NP_001127880.1:p.Arg970Gln
• NC_000016.9:g.9858492C>T
• NG_011812.1:g.423120G>A
• NM_000833.3:c.2909G>A

This HGVS expression did not pass validation

Protein change:

R970Q

Links:

dbSNP: rs148669437

NCBI 1000 Genomes Browser:

rs148669437

Molecular consequence:

• NM_000833.5:c.2909G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134407.3:c.2909G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134408.2:c.2909G>A - missense variant - [Sequence Ontology: SO:0001583]