ClinVar

NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550764 (on Assembly GRCh38)
• Chr3: 38592255 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr)

HGVS:

• NC_000003.12:g.38550764C>T
• NG_008934.1:g.103909G>A
• NM_000335.5:c.5605G>AMANE SELECT
• NM_001099404.1:c.5608G>A
• NM_001099404.2:c.5608G>A
• NM_001099405.2:c.5554G>A
• NM_001160160.2:c.5509G>A
• NM_001160161.2:c.5446G>A
• NM_001354701.2:c.5551G>A
• NM_198056.3:c.5608G>A
• NP_000326.2:p.Ala1869Thr
• NP_001092874.1:p.Ala1870Thr
• NP_001092875.1:p.Ala1852Thr
• NP_001153632.1:p.Ala1837Thr
• NP_001153633.1:p.Ala1816Thr
• NP_001341630.1:p.Ala1851Thr
• NP_932173.1:p.Ala1870Thr
• NP_932173.1:p.Ala1870Thr
• LRG_289t1:c.5608G>A
• LRG_289t3:c.5608G>A
• LRG_289:g.103909G>A
• LRG_289p1:p.Ala1870Thr
• NC_000003.11:g.38592255C>T
• NM_198056.2:c.5608G>A
• NM_198056.3:c.5608G>A

This HGVS expression did not pass validation

Protein change:

A1816T

Links:

dbSNP: rs794728939

NCBI 1000 Genomes Browser:

rs794728939

Molecular consequence:

• NM_000335.5:c.5605G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5608G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5554G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5509G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5446G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5551G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5608G>A - missense variant - [Sequence Ontology: SO:0001583]