ClinVar

NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554306 (on Assembly GRCh38)
• Chr3: 38595797 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)

Other names:

p.F1596I:TTC>ATC

HGVS:

• NC_000003.12:g.38554306A>T
• NG_008934.1:g.100367T>A
• NM_000335.5:c.4783T>AMANE SELECT
• NM_001099404.2:c.4786T>A
• NM_001099405.2:c.4732T>A
• NM_001160160.2:c.4714+69T>A
• NM_001160161.2:c.4624T>A
• NM_001354701.2:c.4729T>A
• NM_198056.3:c.4786T>A
• NP_000326.2:p.Phe1595Ile
• NP_001092874.1:p.Phe1596Ile
• NP_001092875.1:p.Phe1578Ile
• NP_001153633.1:p.Phe1542Ile
• NP_001341630.1:p.Phe1577Ile
• NP_932173.1:p.Phe1596Ile
• NP_932173.1:p.Phe1596Ile
• LRG_289t1:c.4786T>A
• LRG_289:g.100367T>A
• LRG_289p1:p.Phe1596Ile
• NC_000003.11:g.38595797A>T
• NM_198056.2:c.4786T>A
• Q14524:p.Phe1596Ile

This HGVS expression did not pass validation

Protein change:

F1542I

Links:

UniProtKB: Q14524#VAR_074751; dbSNP: rs199473278

NCBI 1000 Genomes Browser:

rs199473278

Molecular consequence:

• NM_001160160.2:c.4714+69T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4783T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4786T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4732T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4624T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4729T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4786T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2