ClinVar

NM_000335.5(SCN5A):c.5578G>A (p.Val1860Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550791 (on Assembly GRCh38)
• Chr3: 38592282 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5578G>A (p.Val1860Ile)

HGVS:

• NC_000003.12:g.38550791C>T
• NG_008934.1:g.103882G>A
• NM_000335.5:c.5578G>AMANE SELECT
• NM_001099404.2:c.5581G>A
• NM_001099405.2:c.5527G>A
• NM_001160160.2:c.5482G>A
• NM_001160161.2:c.5419G>A
• NM_001354701.2:c.5524G>A
• NM_198056.3:c.5581G>A
• NP_000326.2:p.Val1860Ile
• NP_001092874.1:p.Val1861Ile
• NP_001092875.1:p.Val1843Ile
• NP_001153632.1:p.Val1828Ile
• NP_001153633.1:p.Val1807Ile
• NP_001341630.1:p.Val1842Ile
• NP_932173.1:p.Val1861Ile
• NP_932173.1:p.Val1861Ile
• LRG_289t1:c.5581G>A
• LRG_289:g.103882G>A
• LRG_289p1:p.Val1861Ile
• NC_000003.11:g.38592282C>T
• NM_198056.2:c.5581G>A

This HGVS expression did not pass validation

Protein change:

V1807I

Links:

dbSNP: rs199473636

NCBI 1000 Genomes Browser:

rs199473636

Molecular consequence:

• NM_000335.5:c.5578G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5581G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5527G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5482G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5524G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5581G>A - missense variant - [Sequence Ontology: SO:0001583]