Annotation Detail
Information
- Associated Genes
- SCN9A SCN1A-AS1
- Associated Variants
-
SCN9A c.2875-5delT
(
ENST00000303354.11,
ENST00000409672.5,
ENST00000642356.2,
ENST00000645907.1 )
SCN9A c.2875-5delT ( ENST00000303354.11, ENST00000409672.5, ENST00000642356.2, ENST00000645907.1 ) - Associated Disease
- Small fiber neuropathy
- Source Database
- ClinVar
- Description
- NM_001365536.1(SCN9A):c.2875-5del AND Small fiber neuropathy
- ClinVar Allele ID
- 283322
- ClinVar RefSeq Alternation Syntax
- NM_002977.3:c.2842-5del
- ClinVar RefSeq Alternation Syntax
- NM_001365536.1:c.2875-5del
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000346674
- ClinVar Disease
- Small fiber neuropathy
- Observed Origin Sample
- germline
Drugs