ClinVar

NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38551043 (on Assembly GRCh38)
• Chr3: 38592534 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met)

Other names:

p.V1777M:GTG>ATG

HGVS:

• NC_000003.12:g.38551043C>T
• NG_008934.1:g.103630G>A
• NM_000335.5:c.5326G>AMANE SELECT
• NM_001099404.2:c.5329G>A
• NM_001099405.2:c.5275G>A
• NM_001160160.2:c.5230G>A
• NM_001160161.2:c.5167G>A
• NM_001354701.2:c.5272G>A
• NM_198056.3:c.5329G>A
• NP_000326.2:p.Val1776Met
• NP_001092874.1:p.Val1777Met
• NP_001092875.1:p.Val1759Met
• NP_001153632.1:p.Val1744Met
• NP_001153633.1:p.Val1723Met
• NP_001341630.1:p.Val1758Met
• NP_932173.1:p.Val1777Met
• NP_932173.1:p.Val1777Met
• LRG_289t1:c.5329G>A
• LRG_289:g.103630G>A
• LRG_289p1:p.Val1777Met
• NC_000003.11:g.38592534C>T
• NM_198056.2:c.5329G>A
• Q14524:p.Val1777Met

This HGVS expression did not pass validation

Protein change:

V1723M

Links:

UniProtKB: Q14524#VAR_055212; dbSNP: rs199473314

NCBI 1000 Genomes Browser:

rs199473314

Molecular consequence:

• NM_000335.5:c.5326G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]