ClinVar

NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 166009797 (on Assembly GRCh38)
• Chr2: 166866307 (on Assembly GRCh37)

Preferred name:

NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)

Other names:

p.E1308D:GAA>GAT

HGVS:

• NC_000002.12:g.166009797T>A
• NG_011906.1:g.68843A>T
• NM_001165963.4:c.3924A>TMANE SELECT
• NM_001165963.4:c.3924A>T
• NM_001165964.3:c.3840A>T
• NM_001202435.1:c.3924A>T
• NM_001202435.3:c.3924A>T
• NM_001353948.2:c.3924A>T
• NM_001353949.2:c.3891A>T
• NM_001353950.2:c.3891A>T
• NM_001353951.2:c.3891A>T
• NM_001353952.2:c.3891A>T
• NM_001353954.2:c.3888A>T
• NM_001353955.2:c.3888A>T
• NM_001353957.2:c.3840A>T
• NM_001353958.2:c.3840A>T
• NM_001353960.2:c.3837A>T
• NM_001353961.2:c.1482A>T
• NM_006920.6:c.3891A>T
• NP_001159435.1:p.Glu1308Asp
• NP_001159436.1:p.Glu1280Asp
• NP_001189364.1:p.Glu1308Asp
• NP_001340877.1:p.Glu1308Asp
• NP_001340878.1:p.Glu1297Asp
• NP_001340879.1:p.Glu1297Asp
• NP_001340880.1:p.Glu1297Asp
• NP_001340881.1:p.Glu1297Asp
• NP_001340883.1:p.Glu1296Asp
• NP_001340884.1:p.Glu1296Asp
• NP_001340886.1:p.Glu1280Asp
• NP_001340887.1:p.Glu1280Asp
• NP_001340889.1:p.Glu1279Asp
• NP_001340890.1:p.Glu494Asp
• NP_008851.3:p.Glu1297Asp
• LRG_8t1:c.3891A>T
• LRG_8:g.68843A>T
• NC_000002.11:g.166866307T>A
• NC_000002.12:g.166009797T>A
• NM_001165963.1:c.3924A>T
• NM_006920.4:c.3891A>T
• NR_148667.2:n.4277A>T

This HGVS expression did not pass validation

Protein change:

E1279D

Links:

UniProtKB/Swiss-Prot: VAR_064257; dbSNP: rs121917910

NCBI 1000 Genomes Browser:

rs121917910

Molecular consequence:

• NM_001165963.4:c.3924A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165964.3:c.3840A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202435.3:c.3924A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353948.2:c.3924A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353949.2:c.3891A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353950.2:c.3891A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353951.2:c.3891A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353952.2:c.3891A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353954.2:c.3888A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353955.2:c.3888A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353957.2:c.3840A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353958.2:c.3840A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353960.2:c.3837A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353961.2:c.1482A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006920.6:c.3891A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148667.2:n.4277A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

7