ClinVar

NM_001134407.3(GRIN2A):c.937A>G (p.Ile313Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9938029 (on Assembly GRCh38)
• Chr16: 10031886 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.937A>G (p.Ile313Val)

HGVS:

• NC_000016.10:g.9938029T>C
• NG_011812.2:g.249726A>G
• NM_000833.5:c.937A>G
• NM_001134407.3:c.937A>GMANE SELECT
• NM_001134408.2:c.937A>G
• NP_000824.1:p.Ile313Val
• NP_001127879.1:p.Ile313Val
• NP_001127880.1:p.Ile313Val
• NC_000016.9:g.10031886T>C

This HGVS expression did not pass validation

Protein change:

I313V

Links:

dbSNP: rs1465063447

NCBI 1000 Genomes Browser:

rs1465063447

Molecular consequence:

• NM_000833.5:c.937A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134407.3:c.937A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134408.2:c.937A>G - missense variant - [Sequence Ontology: SO:0001583]