ClinVar

NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38560335 (on Assembly GRCh38)
• Chr3: 38601826 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)

Other names:

p.V1353M:GTG>ATG

HGVS:

• NC_000003.12:g.38560335C>T
• NG_008934.1:g.94338G>A
• NM_000335.5:c.4054G>AMANE SELECT
• NM_001099404.2:c.4057G>A
• NM_001099405.2:c.4057G>A
• NM_001160160.2:c.4054G>A
• NM_001160161.2:c.3895G>A
• NM_001354701.2:c.4054G>A
• NM_198056.3:c.4057G>A
• NP_000326.2:p.Val1352Met
• NP_001092874.1:p.Val1353Met
• NP_001092875.1:p.Val1353Met
• NP_001153632.1:p.Val1352Met
• NP_001153633.1:p.Val1299Met
• NP_001341630.1:p.Val1352Met
• NP_932173.1:p.Val1353Met
• NP_932173.1:p.Val1353Met
• LRG_289t1:c.4057G>A
• LRG_289:g.94338G>A
• LRG_289p1:p.Val1353Met
• NC_000003.11:g.38601826C>T
• NM_198056.2:c.4057G>A
• Q14524:p.Val1353Met

This HGVS expression did not pass validation

Protein change:

V1299M

Links:

UniProtKB: Q14524#VAR_074428; dbSNP: rs199473233

NCBI 1000 Genomes Browser:

rs199473233

Molecular consequence:

• NM_000335.5:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.3895G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4057G>A - missense variant - [Sequence Ontology: SO:0001583]