ClinVar

NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter)

Gene:

GRIA4:glutamate ionotropic receptor AMPA type subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 105933884 (on Assembly GRCh38)
• Chr11: 105804610 (on Assembly GRCh37)

Preferred name:

NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter)

HGVS:

• NC_000011.10:g.105933884C>T
• NM_000829.4:c.2209C>TMANE SELECT
• NM_001077243.3:c.2209C>T
• NP_000820.4:p.Arg737Ter
• NP_001070711.3:p.Arg737Ter
• NC_000011.9:g.105804610C>T
• NM_000829.3:c.2209C>T
• NR_046356.2:n.2501C>T

This HGVS expression did not pass validation

Protein change:

R737*

Links:

dbSNP: rs1591461970

NCBI 1000 Genomes Browser:

rs1591461970

Molecular consequence:

• NR_046356.2:n.2501C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000829.4:c.2209C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001077243.3:c.2209C>T - nonsense - [Sequence Ontology: SO:0001587]