ClinVar

NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9938003 (on Assembly GRCh38)
• Chr16: 10031860 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=)

HGVS:

• NC_000016.10:g.9938003G>A
• NG_011812.2:g.249752C>T
• NM_000833.5:c.963C>T
• NM_001134407.3:c.963C>TMANE SELECT
• NM_001134408.2:c.963C>T
• NP_000824.1:p.Tyr321=
• NP_001127879.1:p.Tyr321=
• NP_001127880.1:p.Tyr321=
• NC_000016.9:g.10031860G>A
• NG_011812.1:g.249752C>T
• NM_000833.3:c.963C>T
• NM_000833.4:c.963C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368200727

NCBI 1000 Genomes Browser:

rs368200727

Molecular consequence:

• NM_000833.5:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134407.3:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134408.2:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1