ClinVar

NM_198056.2(SCN5A):c.80G>A (p.Arg27His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38633228 (on Assembly GRCh38)
• Chr3: 38674719 (on Assembly GRCh37)

Preferred name:

NM_198056.2(SCN5A):c.80G>A (p.Arg27His)

Other names:

p.R27H:CGC>CAC

HGVS:

• NC_000003.12:g.38633228C>T
• NG_008934.1:g.21445G>A
• NM_000335.4:c.80G>A
• NM_001099404.1:c.80G>A
• NM_198056.2:c.80G>A
• NP_000326.2:p.Arg27His
• NP_001092874.1:p.Arg27His
• NP_932173.1:p.Arg27His
• LRG_289t1:c.80G>A
• LRG_289t2:c.80G>A
• LRG_289t3:c.80G>A
• LRG_289:g.21445G>A
• LRG_289p1:p.Arg27His
• LRG_289p2:p.Arg27His
• LRG_289p3:p.Arg27His
• NC_000003.11:g.38674719C>T
• Q14524:p.Arg27His

This HGVS expression did not pass validation

Protein change:

R27H

Links:

UniProtKB: Q14524#VAR_026341; dbSNP: rs199473045

GMAF:

0.0004(T), 199473045

NCBI 1000 Genomes Browser:

rs199473045

Allele Frequency:

0.00023(T)

Molecular consequence:

• NM_198056.2:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]