ClinVar

NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38597809 (on Assembly GRCh38)
• Chr3: 38639300 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)

HGVS:

• NC_000003.12:g.38597809C>T
• NG_008934.1:g.56864G>A
• NM_000335.5:c.2182G>AMANE SELECT
• NM_001099404.2:c.2182G>A
• NM_001099405.2:c.2182G>A
• NM_001160160.2:c.2182G>A
• NM_001160161.2:c.2182G>A
• NM_001354701.2:c.2182G>A
• NM_198056.3:c.2182G>A
• NP_000326.2:p.Val728Ile
• NP_000326.2:p.Val728Ile
• NP_001092874.1:p.Val728Ile
• NP_001092875.1:p.Val728Ile
• NP_001153632.1:p.Val728Ile
• NP_001153633.1:p.Val728Ile
• NP_001341630.1:p.Val728Ile
• NP_932173.1:p.Val728Ile
• NP_932173.1:p.Val728Ile
• LRG_289t1:c.2182G>A
• LRG_289t2:c.2182G>A
• LRG_289:g.56864G>A
• LRG_289p1:p.Val728Ile
• LRG_289p2:p.Val728Ile
• NC_000003.11:g.38639300C>T
• NM_000335.4:c.2182G>A
• NM_198056.2:c.2182G>A

This HGVS expression did not pass validation

Protein change:

V728I

Links:

dbSNP: rs958480279

NCBI 1000 Genomes Browser:

rs958480279

Molecular consequence:

• NM_000335.5:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]