ClinVar

NM_001365536.1(SCN9A):c.2105-15G>A

Genes:

SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 166280610 (on Assembly GRCh38)
• Chr2: 167137120 (on Assembly GRCh37)

Preferred name:

NM_001365536.1(SCN9A):c.2105-15G>A

HGVS:

• NC_000002.12:g.166280610C>T
• NG_012798.1:g.100378G>A
• NM_001365536.1:c.2105-15G>AMANE SELECT
• NM_002977.4:c.2072-15G>A
• LRG_369t1:c.2072-15G>A
• LRG_369:g.100378G>A
• NC_000002.11:g.167137120C>T
• NM_002977.3:c.2072-15G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs4525717

NCBI 1000 Genomes Browser:

rs4525717

Molecular consequence:

• NM_001365536.1:c.2105-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002977.4:c.2072-15G>A - intron variant - [Sequence Ontology: SO:0001627]