ClinVar

NM_000335.5(SCN5A):c.273+51G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38632984 (on Assembly GRCh38)
• Chr3: 38674475 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.273+51G>A

HGVS:

• NC_000003.12:g.38632984C>T
• NG_008934.1:g.21689G>A
• NM_000335.5:c.273+51G>AMANE SELECT
• NM_001099404.2:c.273+51G>A
• NM_001099405.2:c.273+51G>A
• NM_001160160.2:c.273+51G>A
• NM_001160161.2:c.273+51G>A
• NM_001354701.2:c.273+51G>A
• NM_198056.3:c.273+51G>A
• LRG_289:g.21689G>A
• NC_000003.11:g.38674475C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs41261744

NCBI 1000 Genomes Browser:

rs41261744

Molecular consequence:

• NM_000335.5:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099404.2:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099405.2:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160160.2:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160161.2:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354701.2:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198056.3:c.273+51G>A - intron variant - [Sequence Ontology: SO:0001627]