ClinVar

NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38562432 (on Assembly GRCh38)
• Chr3: 38603923 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)

HGVS:

• NC_000003.12:g.38562432G>A
• NG_008934.1:g.92241C>T
• NM_000335.5:c.3943C>TMANE SELECT
• NM_001099404.2:c.3946C>T
• NM_001099405.2:c.3946C>T
• NM_001160160.2:c.3943C>T
• NM_001160161.2:c.3784C>T
• NM_001354701.2:c.3943C>T
• NM_198056.3:c.3946C>T
• NP_000326.2:p.Arg1315Ter
• NP_001092874.1:p.Arg1316Ter
• NP_001092875.1:p.Arg1316Ter
• NP_001153632.1:p.Arg1315Ter
• NP_001153633.1:p.Arg1262Ter
• NP_001341630.1:p.Arg1315Ter
• NP_932173.1:p.Arg1316Ter
• NP_932173.1:p.Arg1316Ter
• LRG_289t1:c.3946C>T
• LRG_289:g.92241C>T
• LRG_289p1:p.Arg1316Ter
• NC_000003.11:g.38603923G>A
• NM_198056.2:c.3946C>T

This HGVS expression did not pass validation

Protein change:

R1262*

Links:

dbSNP: rs1553695764

NCBI 1000 Genomes Browser:

rs1553695764

Molecular consequence:

• NM_000335.5:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001099404.2:c.3946C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001099405.2:c.3946C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001160160.2:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001160161.2:c.3784C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354701.2:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_198056.3:c.3946C>T - nonsense - [Sequence Ontology: SO:0001587]