ClinVar

NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137162895 (on Assembly GRCh38)
• Chr9: 140057347 (on Assembly GRCh37)

Preferred name:

NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)

HGVS:

• NC_000009.12:g.137162895C>A
• NG_011507.1:g.28739C>A
• NM_000832.7:c.2063C>A
• NM_001185090.2:c.2126C>A
• NM_001185091.2:c.2126C>A
• NM_007327.4:c.2063C>AMANE SELECT
• NM_021569.4:c.2063C>A
• NP_000823.4:p.Ser688Tyr
• NP_001172019.1:p.Ser709Tyr
• NP_001172020.1:p.Ser709Tyr
• NP_015566.1:p.Ser688Tyr
• NP_067544.1:p.Ser688Tyr
• NC_000009.11:g.140057347C>A
• NM_007327.3:c.2063C>A

This HGVS expression did not pass validation

Protein change:

S688Y

Links:

dbSNP: rs1833635820

NCBI 1000 Genomes Browser:

rs1833635820

Molecular consequence:

• NM_000832.7:c.2063C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185090.2:c.2126C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185091.2:c.2126C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007327.4:c.2063C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021569.4:c.2063C>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Effect on ion channel function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0001]