ClinVar

NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550917 (on Assembly GRCh38)
• Chr3: 38592408 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)

Other names:

p.D1819N:GAT>AAT

HGVS:

• NC_000003.12:g.38550917C>T
• NG_008934.1:g.103756G>A
• NM_000335.5:c.5452G>AMANE SELECT
• NM_001099404.2:c.5455G>A
• NM_001099405.2:c.5401G>A
• NM_001160160.2:c.5356G>A
• NM_001160161.2:c.5293G>A
• NM_001354701.2:c.5398G>A
• NM_198056.3:c.5455G>A
• NP_000326.2:p.Asp1818Asn
• NP_001092874.1:p.Asp1819Asn
• NP_001092874.1:p.Asp1819Asn
• NP_001092875.1:p.Asp1801Asn
• NP_001153632.1:p.Asp1786Asn
• NP_001153633.1:p.Asp1765Asn
• NP_001341630.1:p.Asp1800Asn
• NP_932173.1:p.Asp1819Asn
• NP_932173.1:p.Asp1819Asn
• LRG_289t1:c.5455G>A
• LRG_289t3:c.5455G>A
• LRG_289:g.103756G>A
• LRG_289p1:p.Asp1819Asn
• LRG_289p3:p.Asp1819Asn
• NC_000003.11:g.38592408C>T
• NM_001099404.1:c.5455G>A
• NM_198056.2:c.5455G>A
• Q14524:p.Asp1819Asn

This HGVS expression did not pass validation

Protein change:

D1765N; ASP1819ASN

Links:

UniProtKB: Q14524#VAR_036668; OMIM: 600163.0035; dbSNP: rs137854619

NCBI 1000 Genomes Browser:

rs137854619

Molecular consequence:

• NM_000335.5:c.5452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5455G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5398G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5455G>A - missense variant - [Sequence Ontology: SO:0001583]