ClinVar

NM_001134407.3(GRIN2A):c.2695C>A (p.Arg899=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9764849 (on Assembly GRCh38)
• Chr16: 9858706 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.2695C>A (p.Arg899=)

HGVS:

• NC_000016.10:g.9764849G>T
• NG_011812.2:g.422906C>A
• NM_000833.5:c.2695C>A
• NM_001134407.3:c.2695C>AMANE SELECT
• NM_001134408.2:c.2695C>A
• NP_000824.1:p.Arg899=
• NP_001127879.1:p.Arg899=
• NP_001127880.1:p.Arg899=
• NC_000016.9:g.9858706G>T
• NG_011812.1:g.422906C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs796052553

NCBI 1000 Genomes Browser:

rs796052553

Molecular consequence:

• NM_000833.5:c.2695C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134407.3:c.2695C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134408.2:c.2695C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2