ClinVar

NM_007327.4(GRIN1):c.2442C>T (p.Ala814=)

Gene:

GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137163667 (on Assembly GRCh38)
• Chr9: 140058119 (on Assembly GRCh37)

Preferred name:

NM_007327.4(GRIN1):c.2442C>T (p.Ala814=)

HGVS:

• NC_000009.12:g.137163667C>T
• NG_011507.1:g.29511C>T
• NM_000832.7:c.2442C>T
• NM_001185090.2:c.2505C>T
• NM_001185091.2:c.2505C>T
• NM_007327.4:c.2442C>TMANE SELECT
• NM_021569.4:c.2442C>T
• NP_000823.4:p.Ala814=
• NP_001172019.1:p.Ala835=
• NP_001172020.1:p.Ala835=
• NP_015566.1:p.Ala814=
• NP_067544.1:p.Ala814=
• NC_000009.11:g.140058119C>T
• NM_001185090.1:c.2505C>T
• NM_007327.3:c.2442C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs773708731

NCBI 1000 Genomes Browser:

rs773708731

Molecular consequence:

• NM_000832.7:c.2442C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185090.2:c.2505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185091.2:c.2505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007327.4:c.2442C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021569.4:c.2442C>T - synonymous variant - [Sequence Ontology: SO:0001819]