ClinVar

NM_000335.5(SCN5A):c.3509-1G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38575452 (on Assembly GRCh38)
• Chr3: 38616943 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3509-1G>C

HGVS:

• NC_000003.12:g.38575452C>G
• NG_008934.1:g.79221G>C
• NM_000335.5:c.3509-1G>CMANE SELECT
• NM_001099404.2:c.3512-1G>C
• NM_001099405.2:c.3512-1G>C
• NM_001160160.2:c.3509-1G>C
• NM_001160161.2:c.3350-1G>C
• NM_001354701.2:c.3509-1G>C
• NM_198056.3:c.3512-1G>C
• LRG_289t1:c.3512-1G>C
• LRG_289:g.79221G>C
• NC_000003.11:g.38616943C>G
• NM_198056.2:c.3512-1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1553698563

NCBI 1000 Genomes Browser:

rs1553698563

Molecular consequence:

• NM_000335.5:c.3509-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001099404.2:c.3512-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001099405.2:c.3512-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001160160.2:c.3509-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001160161.2:c.3350-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001354701.2:c.3509-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_198056.3:c.3512-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]