ClinVar

NM_000335.5(SCN5A):c.4779C>A (p.Phe1593Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554310 (on Assembly GRCh38)
• Chr3: 38595801 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4779C>A (p.Phe1593Leu)

HGVS:

• NC_000003.12:g.38554310G>T
• NG_008934.1:g.100363C>A
• NM_000335.5:c.4779C>AMANE SELECT
• NM_001099404.2:c.4782C>A
• NM_001099405.2:c.4728C>A
• NM_001160160.2:c.4714+65C>A
• NM_001160161.2:c.4620C>A
• NM_001354701.2:c.4725C>A
• NM_198056.3:c.4782C>A
• NP_000326.2:p.Phe1593Leu
• NP_001092874.1:p.Phe1594Leu
• NP_001092875.1:p.Phe1576Leu
• NP_001153633.1:p.Phe1540Leu
• NP_001341630.1:p.Phe1575Leu
• NP_932173.1:p.Phe1594Leu
• LRG_289:g.100363C>A
• NC_000003.11:g.38595801G>T

This HGVS expression did not pass validation

Protein change:

F1540L

Links:

dbSNP: rs376720757

NCBI 1000 Genomes Browser:

rs376720757

Molecular consequence:

• NM_001160160.2:c.4714+65C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4779C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4782C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4728C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4620C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4725C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4782C>A - missense variant - [Sequence Ontology: SO:0001583]