Annotation Detail
Information
- Associated Genes
- SCN9A SCN1A-AS1
- Associated Variants
-
SCN9A p.Ile731Lys (p.I731K)
(
ENST00000303354.11,
ENST00000409672.5,
ENST00000454569.6,
ENST00000642356.2,
ENST00000645907.1 )
SCN9A p.Ile731Lys (p.I731K) ( ENST00000303354.11, ENST00000409672.5, ENST00000454569.6, ENST00000642356.2, ENST00000645907.1 ) - Associated Disease
- Primary erythromelalgia
- Source Database
- ClinVar
- Description
- NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND Primary erythromelalgia
- ClinVar Allele ID
- 39313
- ClinVar RefSeq Alternation Syntax
- NM_001365536.1:c.2192T>A
- ClinVar RefSeq Alternation Syntax
- NM_002977.4:c.2159T>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-01-05
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000191125
- ClinVar Disease
- Primary erythromelalgia
- Observed Origin Sample
- germline
Drugs