ClinVar

NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165295905 (on Assembly GRCh38)
• Chr2: 166152415 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys)

Other names:

p.R28C:CGC>TGC

HGVS:

• NC_000002.12:g.165295905C>T
• NG_008143.1:g.61504C>T
• NM_001040142.2:c.82C>TMANE SELECT
• NM_001040143.2:c.82C>T
• NM_001371246.1:c.82C>T
• NM_001371247.1:c.82C>T
• NM_021007.3:c.82C>T
• NP_001035232.1:p.Arg28Cys
• NP_001035233.1:p.Arg28Cys
• NP_001358175.1:p.Arg28Cys
• NP_001358176.1:p.Arg28Cys
• NP_066287.2:p.Arg28Cys
• NP_066287.2:p.Arg28Cys
• NC_000002.11:g.166152415C>T
• NM_021007.2:c.82C>T

This HGVS expression did not pass validation

Protein change:

R28C

Links:

dbSNP: rs200884216

NCBI 1000 Genomes Browser:

rs200884216

Molecular consequence:

• NM_001040142.2:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Increase of subthreshold current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0125]
• Overall gain-of-function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0137]