ClinVar

NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9798443 (on Assembly GRCh38)
• Chr16: 9892300 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)

Other names:

p.Y730Y:TAC>TAT

HGVS:

• NC_000016.10:g.9798443G>A
• NG_011812.2:g.389312C>T
• NM_000833.5:c.2190C>T
• NM_001134407.3:c.2190C>TMANE SELECT
• NM_001134408.2:c.2190C>T
• NP_000824.1:p.Tyr730=
• NP_001127879.1:p.Tyr730=
• NP_001127880.1:p.Tyr730=
• NC_000016.9:g.9892300G>A
• NG_011812.1:g.389312C>T
• NM_000833.3:c.2190C>T
• NM_000833.4:c.2190C>T
• NM_001134407.2:c.2190C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs61753382

NCBI 1000 Genomes Browser:

rs61753382

Molecular consequence:

• NM_000833.5:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134407.3:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134408.2:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

31