ClinVar

NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550680 (on Assembly GRCh38)
• Chr3: 38592171 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)

HGVS:

• NC_000003.12:g.38550680G>A
• NG_008934.1:g.103993C>T
• NM_000335.5:c.5689C>TMANE SELECT
• NM_001099404.2:c.5692C>T
• NM_001099405.2:c.5638C>T
• NM_001160160.2:c.5593C>T
• NM_001160161.2:c.5530C>T
• NM_001354701.2:c.5635C>T
• NM_198056.3:c.5692C>T
• NP_000326.2:p.Arg1897Cys
• NP_001092874.1:p.Arg1898Cys
• NP_001092875.1:p.Arg1880Cys
• NP_001153632.1:p.Arg1865Cys
• NP_001153633.1:p.Arg1844Cys
• NP_001341630.1:p.Arg1879Cys
• NP_932173.1:p.Arg1898Cys
• NP_932173.1:p.Arg1898Cys
• LRG_289t1:c.5692C>T
• LRG_289:g.103993C>T
• LRG_289p1:p.Arg1898Cys
• NC_000003.11:g.38592171G>A
• NM_198056.2:c.5692C>T

This HGVS expression did not pass validation

Protein change:

R1844C

Links:

dbSNP: rs373118001

NCBI 1000 Genomes Browser:

rs373118001

Molecular consequence:

• NM_000335.5:c.5689C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5692C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5638C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5593C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5530C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5692C>T - missense variant - [Sequence Ontology: SO:0001583]