Annotation Detail
Information
- Associated Genes
- PRX
- Associated Variants
-
PRX p.Leu178CysfsTer14 (p.L178Cfs*14)
(
ENST00000291825.11,
ENST00000324001.8,
ENST00000673881.1,
ENST00000674005.2,
ENST00000674773.1 )
PRX p.Leu178CysfsTer14 (p.L178Cfs*14) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 ) - Associated Disease
- Autosomal recessive Dejerine-Sottas syndrome
- Source Database
- ClinVar
- Description
- NM_181882.3(PRX):c.247del (p.Leu83fs) AND Autosomal recessive Dejerine-Sottas syndrome
- ClinVar Allele ID
- 47013
- ClinVar RefSeq Alternation Syntax
- NM_181882.3:c.247del
- ClinVar RefSeq Alternation Syntax
- NM_020956.2:c.247del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002295276
- ClinVar Disease
- Autosomal recessive Dejerine-Sottas syndrome
- Observed Origin Sample
- germline
- Pubmed
- 12112076
Drugs