ClinVar

NM_000335.5(SCN5A):c.*980C>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: 38549341 (on Assembly GRCh38)
• Chr3: 38590832 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.*980C>A

HGVS:

• NC_000003.12:g.38549341G>T
• NG_008934.1:g.105332C>A
• NM_000335.5:c.*980C>AMANE SELECT
• NM_001099404.2:c.*980C>A
• NM_001099405.2:c.*980C>A
• NM_001160160.2:c.*980C>A
• NM_001160161.2:c.*980C>A
• NM_001354701.2:c.*980C>A
• NM_198056.3:c.*980C>A
• LRG_289t1:c.*980C>A
• LRG_289:g.105332C>A
• NC_000003.11:g.38590832G>T
• NM_198056.2:c.*980C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs886058449

NCBI 1000 Genomes Browser:

rs886058449

Molecular consequence:

• NM_000335.5:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001099404.2:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001099405.2:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001160160.2:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001160161.2:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354701.2:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_198056.3:c.*980C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]