ClinVar

NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38576715 (on Assembly GRCh38)
• Chr3: 38618206 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter)

HGVS:

• NC_000003.12:g.38576715G>A
• NG_008934.1:g.77958C>T
• NM_000335.5:c.3454C>TMANE SELECT
• NM_001099404.2:c.3457C>T
• NM_001099405.2:c.3457C>T
• NM_001160160.2:c.3454C>T
• NM_001160161.2:c.3295C>T
• NM_001354701.2:c.3454C>T
• NM_198056.3:c.3457C>T
• NP_000326.2:p.Gln1152Ter
• NP_001092874.1:p.Gln1153Ter
• NP_001092875.1:p.Gln1153Ter
• NP_001153632.1:p.Gln1152Ter
• NP_001153633.1:p.Gln1099Ter
• NP_001341630.1:p.Gln1152Ter
• NP_932173.1:p.Gln1153Ter
• LRG_289:g.77958C>T
• NC_000003.11:g.38618206G>A

This HGVS expression did not pass validation

Protein change:

Q1099*

Links:

dbSNP: rs1575751854

NCBI 1000 Genomes Browser:

rs1575751854

Molecular consequence:

• NM_000335.5:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001099404.2:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001099405.2:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001160160.2:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001160161.2:c.3295C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354701.2:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_198056.3:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]