ClinVar

NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554345 (on Assembly GRCh38)
• Chr3: 38595836 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)

HGVS:

• NC_000003.12:g.38554345G>A
• NG_008934.1:g.100328C>T
• NM_000335.5:c.4744C>TMANE SELECT
• NM_001099404.2:c.4747C>T
• NM_001099405.2:c.4693C>T
• NM_001160160.2:c.4714+30C>T
• NM_001160161.2:c.4585C>T
• NM_001354701.2:c.4690C>T
• NM_198056.3:c.4747C>T
• NP_000326.2:p.Arg1582Cys
• NP_001092874.1:p.Arg1583Cys
• NP_001092875.1:p.Arg1565Cys
• NP_001153633.1:p.Arg1529Cys
• NP_001341630.1:p.Arg1564Cys
• NP_932173.1:p.Arg1583Cys
• NP_932173.1:p.Arg1583Cys
• LRG_289t1:c.4747C>T
• LRG_289:g.100328C>T
• LRG_289p1:p.Arg1583Cys
• NC_000003.11:g.38595836G>A
• NM_198056.2:c.4747C>T
• Q14524:p.Arg1583Cys

This HGVS expression did not pass validation

Protein change:

R1529C

Links:

UniProtKB: Q14524#VAR_074456; dbSNP: rs45514691

NCBI 1000 Genomes Browser:

rs45514691

Molecular consequence:

• NM_001160160.2:c.4714+30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4744C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4693C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4585C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4690C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1