ClinVar

NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550745 (on Assembly GRCh38)
• Chr3: 38592236 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val)

HGVS:

• NC_000003.12:g.38550745T>A
• NG_008934.1:g.103928A>T
• NM_000335.5:c.5624A>TMANE SELECT
• NM_001099404.2:c.5627A>T
• NM_001099405.2:c.5573A>T
• NM_001160160.2:c.5528A>T
• NM_001160161.2:c.5465A>T
• NM_001354701.2:c.5570A>T
• NM_198056.3:c.5627A>T
• NP_000326.2:p.Glu1875Val
• NP_001092874.1:p.Glu1876Val
• NP_001092875.1:p.Glu1858Val
• NP_001153632.1:p.Glu1843Val
• NP_001153633.1:p.Glu1822Val
• NP_001341630.1:p.Glu1857Val
• NP_932173.1:p.Glu1876Val
• LRG_289t1:c.5627A>T
• LRG_289:g.103928A>T
• NC_000003.11:g.38592236T>A
• NM_198056.2:c.5627A>T

This HGVS expression did not pass validation

Protein change:

E1822V

Links:

dbSNP: rs2061017114

NCBI 1000 Genomes Browser:

rs2061017114

Molecular consequence:

• NM_000335.5:c.5624A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5627A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5573A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5528A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5465A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5570A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5627A>T - missense variant - [Sequence Ontology: SO:0001583]