ClinVar

NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)

Genes:

LOC110121269:VISTA enhancer hs2177 [Gene]
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38579432 (on Assembly GRCh38)
• Chr3: 38620923 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)

HGVS:

• NC_000003.12:g.38579432C>A
• NG_008934.1:g.75241G>T
• NG_053884.1:g.1171C>A
• NM_000335.5:c.3289G>TMANE SELECT
• NM_001099404.2:c.3292G>T
• NM_001099405.2:c.3292G>T
• NM_001160160.2:c.3289G>T
• NM_001160161.2:c.3228+1499G>T
• NM_001354701.2:c.3289G>T
• NM_198056.3:c.3292G>T
• NP_000326.2:p.Val1097Leu
• NP_001092874.1:p.Val1098Leu
• NP_001092875.1:p.Val1098Leu
• NP_001153632.1:p.Val1097Leu
• NP_001341630.1:p.Val1097Leu
• NP_932173.1:p.Val1098Leu
• NP_932173.1:p.Val1098Leu
• LRG_289t1:c.3292G>T
• LRG_289:g.75241G>T
• LRG_289p1:p.Val1098Leu
• NC_000003.11:g.38620923C>A
• NM_198056.2:c.3292G>T
• Q14524:p.Val1098Leu

This HGVS expression did not pass validation

Protein change:

V1097L

Links:

UniProtKB: Q14524#VAR_074407; dbSNP: rs199473191

NCBI 1000 Genomes Browser:

rs199473191

Molecular consequence:

• NM_001160161.2:c.3228+1499G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.3289G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.3292G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.3292G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.3289G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.3289G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.3292G>T - missense variant - [Sequence Ontology: SO:0001583]