ClinVar

NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165310541 (on Assembly GRCh38)
• Chr2: 166167051 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser)

HGVS:

• NC_000002.12:g.165310541A>T
• NG_008143.1:g.76140A>T
• NM_001040142.2:c.916A>TMANE SELECT
• NM_001040143.2:c.916A>T
• NM_001371246.1:c.916A>T
• NM_001371247.1:c.916A>T
• NM_021007.3:c.916A>T
• NP_001035232.1:p.Thr306Ser
• NP_001035233.1:p.Thr306Ser
• NP_001358175.1:p.Thr306Ser
• NP_001358176.1:p.Thr306Ser
• NP_066287.2:p.Thr306Ser
• NC_000002.11:g.166167051A>T
• NM_021007.2:c.916A>T

This HGVS expression did not pass validation

Protein change:

T306S

Links:

dbSNP: rs370114048

NCBI 1000 Genomes Browser:

rs370114048

Molecular consequence:

• NM_001040142.2:c.916A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.916A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.916A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.916A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.916A>T - missense variant - [Sequence Ontology: SO:0001583]