ClinVar

NM_001134407.3(GRIN2A):c.80C>T (p.Ala27Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 10180332 (on Assembly GRCh38)
• Chr16: 10274189 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.80C>T (p.Ala27Val)

HGVS:

• NC_000016.10:g.10180332G>A
• NG_011812.2:g.7423C>T
• NM_000833.5:c.80C>T
• NM_001134407.3:c.80C>TMANE SELECT
• NM_001134408.2:c.80C>T
• NP_000824.1:p.Ala27Val
• NP_001127879.1:p.Ala27Val
• NP_001127880.1:p.Ala27Val
• NC_000016.9:g.10274189G>A
• NG_011812.1:g.7423C>T

This HGVS expression did not pass validation

Protein change:

A27V

Links:

dbSNP: rs367543129

NCBI 1000 Genomes Browser:

rs367543129

Molecular consequence:

• NM_000833.5:c.80C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134407.3:c.80C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134408.2:c.80C>T - missense variant - [Sequence Ontology: SO:0001583]