ClinVar

NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)

Gene:

GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.1

Genomic location:

• Chr12: 13753704 (on Assembly GRCh38)
• Chr12: 13906638 (on Assembly GRCh37)

Preferred name:

NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)

HGVS:

• NC_000012.12:g.13753704G>A
• NG_031854.2:g.233309C>T
• NM_000834.5:c.623C>TMANE SELECT
• NM_001413992.1:c.623C>T
• NM_001413993.1:c.623C>T
• NM_001413994.1:c.623C>T
• NM_001413995.1:c.623C>T
• NP_000825.2:p.Ser208Phe
• NP_001400921.1:p.Ser208Phe
• NP_001400922.1:p.Ser208Phe
• NP_001400923.1:p.Ser208Phe
• NP_001400924.1:p.Ser208Phe
• NC_000012.11:g.13906638G>A

This HGVS expression did not pass validation

Protein change:

S208F

Molecular consequence:

• NM_000834.5:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413992.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413993.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413994.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413995.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]