ClinVar

NM_007327.4(GRIN1):c.1888C>T (p.Arg630Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137162614 (on Assembly GRCh38)
• Chr9: 140057066 (on Assembly GRCh37)

Preferred name:

NM_007327.4(GRIN1):c.1888C>T (p.Arg630Cys)

HGVS:

• NC_000009.12:g.137162614C>T
• NG_011507.1:g.28458C>T
• NM_000832.7:c.1888C>T
• NM_001185090.2:c.1951C>T
• NM_001185091.2:c.1951C>T
• NM_007327.4:c.1888C>TMANE SELECT
• NM_021569.4:c.1888C>T
• NP_000823.4:p.Arg630Cys
• NP_001172019.1:p.Arg651Cys
• NP_001172020.1:p.Arg651Cys
• NP_015566.1:p.Arg630Cys
• NP_067544.1:p.Arg630Cys
• NC_000009.11:g.140057066C>T
• NM_007327.3:c.1888C>T

This HGVS expression did not pass validation

Protein change:

R630C

Molecular consequence:

• NM_000832.7:c.1888C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185090.2:c.1951C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001185091.2:c.1951C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007327.4:c.1888C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021569.4:c.1888C>T - missense variant - [Sequence Ontology: SO:0001583]