ClinVar

NM_001134407.3(GRIN2A):c.932C>A (p.Ser311Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9938034 (on Assembly GRCh38)
• Chr16: 10031891 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.932C>A (p.Ser311Tyr)

HGVS:

• NC_000016.10:g.9938034G>T
• NG_011812.2:g.249721C>A
• NM_000833.5:c.932C>A
• NM_001134407.3:c.932C>AMANE SELECT
• NM_001134408.2:c.932C>A
• NP_000824.1:p.Ser311Tyr
• NP_001127879.1:p.Ser311Tyr
• NP_001127880.1:p.Ser311Tyr
• NC_000016.9:g.10031891G>T
• NM_000833.3:c.932C>A

This HGVS expression did not pass validation

Protein change:

S311Y

Molecular consequence:

• NM_000833.5:c.932C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134407.3:c.932C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134408.2:c.932C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1