ClinVar

NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38633256 (on Assembly GRCh38)
• Chr3: 38674747 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)

Other names:

p.R18W:CGG>TGG

HGVS:

• NC_000003.12:g.38633256G>A
• NG_008934.1:g.21417C>T
• NM_000335.5:c.52C>TMANE SELECT
• NM_001099404.2:c.52C>T
• NM_001099405.2:c.52C>T
• NM_001160160.2:c.52C>T
• NM_001160161.2:c.52C>T
• NM_001354701.2:c.52C>T
• NM_198056.3:c.52C>T
• NP_000326.2:p.Arg18Trp
• NP_001092874.1:p.Arg18Trp
• NP_001092875.1:p.Arg18Trp
• NP_001153632.1:p.Arg18Trp
• NP_001153633.1:p.Arg18Trp
• NP_001341630.1:p.Arg18Trp
• NP_932173.1:p.Arg18Trp
• NP_932173.1:p.Arg18Trp
• LRG_289t1:c.52C>T
• LRG_289:g.21417C>T
• LRG_289p1:p.Arg18Trp
• NC_000003.11:g.38674747G>A
• NM_198056.2:c.52C>T
• Q14524:p.Arg18Trp

This HGVS expression did not pass validation

Protein change:

R18W

Links:

UniProtKB: Q14524#VAR_068325; dbSNP: rs199473044

NCBI 1000 Genomes Browser:

rs199473044

Molecular consequence:

• NM_000335.5:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]