ClinVar

NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38562422 (on Assembly GRCh38)
• Chr3: 38603913 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)

HGVS:

• NC_000003.12:g.38562422C>A
• NG_008934.1:g.92251G>T
• NM_000335.5:c.3953G>TMANE SELECT
• NM_001099404.2:c.3956G>T
• NM_001099405.2:c.3956G>T
• NM_001160160.2:c.3953G>T
• NM_001160161.2:c.3794G>T
• NM_001354701.2:c.3953G>T
• NM_198056.3:c.3956G>T
• NP_000326.2:p.Gly1318Val
• NP_001092874.1:p.Gly1319Val
• NP_001092875.1:p.Gly1319Val
• NP_001153632.1:p.Gly1318Val
• NP_001153633.1:p.Gly1265Val
• NP_001341630.1:p.Gly1318Val
• NP_932173.1:p.Gly1319Val
• NP_932173.1:p.Gly1319Val
• LRG_289t1:c.3956G>T
• LRG_289:g.92251G>T
• LRG_289p1:p.Gly1319Val
• NC_000003.11:g.38603913C>A
• NM_198056.2:c.3956G>T
• Q14524:p.Gly1319Val

This HGVS expression did not pass validation

Protein change:

G1265V

Links:

UniProtKB: Q14524#VAR_026375; dbSNP: rs199473220

NCBI 1000 Genomes Browser:

rs199473220

Molecular consequence:

• NM_000335.5:c.3953G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.3956G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.3956G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.3953G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.3794G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.3953G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.3956G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3