Annotation Detail
Information
- Associated Genes
- PRX
- Associated Variants
-
PRX p.Lys1025SerfsTer28 (p.K1025Sfs*28)
(
ENST00000291825.11,
ENST00000324001.8,
ENST00000673881.1,
ENST00000674005.2,
ENST00000674773.1 )
PRX p.Lys1025SerfsTer28 (p.K1025Sfs*28) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 ) - Associated Disease
- Charcot-Marie-Tooth disease type 4
- Source Database
- ClinVar
- Description
- NM_181882.3(PRX):c.2787del (p.Lys930fs) AND Charcot-Marie-Tooth disease type 4
- ClinVar Allele ID
- 213839
- ClinVar RefSeq Alternation Syntax
- NM_020956.2:c.*2992del
- ClinVar RefSeq Alternation Syntax
- NM_181882.3:c.2787del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001048951
- ClinVar Disease
- Charcot-Marie-Tooth disease type 4
- Observed Origin Sample
- germline
Drugs