ClinVar

NM_000335.5(SCN5A):c.998+5G>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: 38608146 (on Assembly GRCh38)
• Chr3: 38649637 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.998+5G>A

HGVS:

• NC_000003.12:g.38608146C>T
• NG_008934.1:g.46527G>A
• NM_000335.5:c.998+5G>AMANE SELECT
• NM_001099404.2:c.998+5G>A
• NM_001099405.2:c.998+5G>A
• NM_001160160.2:c.998+5G>A
• NM_001160161.2:c.998+5G>A
• NM_001354701.2:c.998+5G>A
• NM_198056.3:c.998+5G>A
• LRG_289t1:c.998+5G>A
• LRG_289t3:c.998+5G>A
• LRG_289:g.46527G>A
• NC_000003.11:g.38649637C>T
• NM_001099404.1:c.998+5G>A
• NM_198056.2:c.998+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs187531872

NCBI 1000 Genomes Browser:

rs187531872

Molecular consequence:

• NM_000335.5:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099404.2:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099405.2:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160160.2:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160161.2:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354701.2:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198056.3:c.998+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1