ClinVar

NM_000335.5(SCN5A):c.*1969C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38548352 (on Assembly GRCh38)
• Chr3: 38589843 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.*1969C>T

HGVS:

• NC_000003.12:g.38548352G>A
• NG_008934.1:g.106321C>T
• NM_000335.5:c.*1969C>TMANE SELECT
• NM_001099404.2:c.*1969C>T
• NM_001099405.2:c.*1969C>T
• NM_001160160.2:c.*1969C>T
• NM_001160161.2:c.*1969C>T
• NM_001354701.2:c.*1969C>T
• NM_198056.3:c.*1969C>T
• LRG_289t1:c.*1969C>T
• LRG_289:g.106321C>T
• NC_000003.11:g.38589843G>A
• NM_198056.2:c.*1969C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs190416544

NCBI 1000 Genomes Browser:

rs190416544

Molecular consequence:

• NM_000335.5:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001099404.2:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001099405.2:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001160160.2:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001160161.2:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354701.2:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_198056.3:c.*1969C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]