ClinVar

NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165310412 (on Assembly GRCh38)
• Chr2: 166166922 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr)

HGVS:

• NC_000002.12:g.165310412G>A
• NG_008143.1:g.76011G>A
• NM_001040142.2:c.787G>AMANE SELECT
• NM_001040143.2:c.787G>A
• NM_001371246.1:c.787G>A
• NM_001371247.1:c.787G>A
• NM_021007.3:c.787G>A
• NP_001035232.1:p.Ala263Thr
• NP_001035233.1:p.Ala263Thr
• NP_001358175.1:p.Ala263Thr
• NP_001358176.1:p.Ala263Thr
• NP_066287.2:p.Ala263Thr
• NC_000002.11:g.166166922G>A
• NM_021007.2:c.787G>A

This HGVS expression did not pass validation

Protein change:

A263T

Links:

dbSNP: rs1697364931

NCBI 1000 Genomes Browser:

rs1697364931

Molecular consequence:

• NM_001040142.2:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0040]
• Overall gain-of-function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0137]