ClinVar

NM_007327.4(GRIN1):c.2223G>C (p.Ser741=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137163220 (on Assembly GRCh38)
• Chr9: 140057672 (on Assembly GRCh37)

Preferred name:

NM_007327.4(GRIN1):c.2223G>C (p.Ser741=)

HGVS:

• NC_000009.12:g.137163220G>C
• NG_011507.1:g.29064G>C
• NM_000832.7:c.2223G>C
• NM_001185090.2:c.2286G>C
• NM_001185091.2:c.2286G>C
• NM_007327.4:c.2223G>CMANE SELECT
• NM_021569.4:c.2223G>C
• NP_000823.4:p.Ser741=
• NP_001172019.1:p.Ser762=
• NP_001172020.1:p.Ser762=
• NP_015566.1:p.Ser741=
• NP_067544.1:p.Ser741=
• NC_000009.11:g.140057672G>C
• NM_007327.3:c.2223G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs767848286

NCBI 1000 Genomes Browser:

rs767848286

Molecular consequence:

• NM_000832.7:c.2223G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185090.2:c.2286G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185091.2:c.2286G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007327.4:c.2223G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021569.4:c.2223G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

4