ClinVar

NM_000335.5(SCN5A):c.1890+13C>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: 38603699 (on Assembly GRCh38)
• Chr3: 38645190 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.1890+13C>T

HGVS:

• NC_000003.12:g.38603699G>A
• NG_008934.1:g.50974C>T
• NM_000335.5:c.1890+13C>TMANE SELECT
• NM_001099404.2:c.1890+13C>T
• NM_001099405.2:c.1890+13C>T
• NM_001160160.2:c.1890+13C>T
• NM_001160161.2:c.1890+13C>T
• NM_001354701.2:c.1890+13C>T
• NM_198056.3:c.1890+13C>T
• LRG_289:g.50974C>T
• NC_000003.11:g.38645190G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs777868102

NCBI 1000 Genomes Browser:

rs777868102

Molecular consequence:

• NM_000335.5:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099404.2:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099405.2:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160160.2:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160161.2:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354701.2:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198056.3:c.1890+13C>T - intron variant - [Sequence Ontology: SO:0001627]