ClinVar

NM_007327.4(GRIN1):c.1513C>T (p.Leu505=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137161969 (on Assembly GRCh38)
• Chr9: 140056421 (on Assembly GRCh37)

Preferred name:

NM_007327.4(GRIN1):c.1513C>T (p.Leu505=)

HGVS:

• NC_000009.12:g.137161969C>T
• NG_011507.1:g.27813C>T
• NM_000832.7:c.1513C>T
• NM_001185090.2:c.1576C>T
• NM_001185091.2:c.1576C>T
• NM_007327.4:c.1513C>TMANE SELECT
• NM_021569.4:c.1513C>T
• NP_000823.4:p.Leu505=
• NP_001172019.1:p.Leu526=
• NP_001172020.1:p.Leu526=
• NP_015566.1:p.Leu505=
• NP_067544.1:p.Leu505=
• NC_000009.11:g.140056421C>T
• NM_007327.3:c.1513C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139637382

Molecular consequence:

• NM_000832.7:c.1513C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185090.2:c.1576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185091.2:c.1576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007327.4:c.1513C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021569.4:c.1513C>T - synonymous variant - [Sequence Ontology: SO:0001819]