ClinVar

NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550832 (on Assembly GRCh38)
• Chr3: 38592323 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)

HGVS:

• NC_000003.12:g.38550832C>T
• NG_008934.1:g.103841G>A
• NM_000335.5:c.5537G>AMANE SELECT
• NM_001099404.2:c.5540G>A
• NM_001099405.2:c.5486G>A
• NM_001160160.2:c.5441G>A
• NM_001160161.2:c.5378G>A
• NM_001354701.2:c.5483G>A
• NM_198056.3:c.5540G>A
• NP_000326.2:p.Arg1846His
• NP_001092874.1:p.Arg1847His
• NP_001092875.1:p.Arg1829His
• NP_001153632.1:p.Arg1814His
• NP_001153633.1:p.Arg1793His
• NP_001341630.1:p.Arg1828His
• NP_932173.1:p.Arg1847His
• NP_932173.1:p.Arg1847His
• LRG_289t1:c.5540G>A
• LRG_289:g.103841G>A
• LRG_289p1:p.Arg1847His
• NC_000003.11:g.38592323C>T
• NM_198056.2:c.5540G>A
• c.5540G>A

This HGVS expression did not pass validation

Protein change:

R1793H

Links:

dbSNP: rs369058100

NCBI 1000 Genomes Browser:

rs369058100

Molecular consequence:

• NM_000335.5:c.5537G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5540G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5486G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5441G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5378G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5483G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5540G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1