ClinVar

NM_001134407.3(GRIN2A):c.3909C>T (p.Asp1303=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

• Chr16: 9763635 (on Assembly GRCh38)
• Chr16: 9857492 (on Assembly GRCh37)

Preferred name:

NM_001134407.3(GRIN2A):c.3909C>T (p.Asp1303=)

HGVS:

• NC_000016.10:g.9763635G>A
• NG_011812.2:g.424120C>T
• NM_000833.5:c.3909C>T
• NM_001134407.3:c.3909C>TMANE SELECT
• NM_001134408.2:c.3772+137C>T
• NP_000824.1:p.Asp1303=
• NP_001127879.1:p.Asp1303=
• NC_000016.9:g.9857492G>A
• NG_011812.1:g.424120C>T
• NM_000833.3:c.3909C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs765744766

NCBI 1000 Genomes Browser:

rs765744766

Molecular consequence:

• NM_001134408.2:c.3772+137C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000833.5:c.3909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134407.3:c.3909C>T - synonymous variant - [Sequence Ontology: SO:0001819]