ClinVar

NM_001083619.3(GRIA2):c.651C>T (p.Asn217=)

Gene:

GRIA2:glutamate ionotropic receptor AMPA type subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

• Chr4: 157312860 (on Assembly GRCh38)
• Chr4: 158234012 (on Assembly GRCh37)

Preferred name:

NM_001083619.3(GRIA2):c.651C>T (p.Asn217=)

HGVS:

• NC_000004.12:g.157312860C>T
• NM_000826.6:c.651C>T
• NM_001083619.3:c.651C>TMANE SELECT
• NM_001083620.3:c.510C>T
• NM_001379000.3:c.510C>T
• NM_001379001.3:c.510C>T
• NP_000817.5:p.Asn217=
• NP_001077088.2:p.Asn217=
• NP_001077089.2:p.Asn170=
• NP_001365929.3:p.Asn170=
• NP_001365930.3:p.Asn170=
• NC_000004.11:g.158234012C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774807805

NCBI 1000 Genomes Browser:

rs774807805

Molecular consequence:

• NM_000826.6:c.651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083619.3:c.651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083620.3:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379000.3:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379001.3:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1