ClinVar

NM_000335.5(SCN5A):c.2788-8C>T

Genes:

LOC110121269:VISTA enhancer hs2177 [Gene]
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38581379 (on Assembly GRCh38)
• Chr3: 38622870 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.2788-8C>T

HGVS:

• NC_000003.12:g.38581379G>A
• NG_008934.1:g.73294C>T
• NG_053884.1:g.3118G>A
• NM_000335.5:c.2788-8C>TMANE SELECT
• NM_001099404.2:c.2788-8C>T
• NM_001099405.2:c.2788-8C>T
• NM_001160160.2:c.2788-8C>T
• NM_001160161.2:c.2788-8C>T
• NM_001354701.2:c.2788-8C>T
• NM_198056.3:c.2788-8C>T
• LRG_289:g.73294C>T
• NC_000003.11:g.38622870G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2125872001

NCBI 1000 Genomes Browser:

rs2125872001

Molecular consequence:

• NM_000335.5:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099404.2:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099405.2:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160160.2:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160161.2:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354701.2:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198056.3:c.2788-8C>T - intron variant - [Sequence Ontology: SO:0001627]