Annotation Detail
Information
- Associated Genes
- CLPP
- Associated Variants
-
CLPP p.Ile100Thr (p.I100T)
(
ENST00000245816.11,
ENST00000596149.5 )
CLPP p.Ile100Thr (p.I100T) ( ENST00000245816.11, ENST00000596149.5 ) - Associated Disease
- Perrault syndrome 3
- Source Database
- ClinVar
- Description
- NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) AND Perrault syndrome 3
- ClinVar Allele ID
- 1323530
- ClinVar RefSeq Alternation Syntax
- NM_006012.4:c.299T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001806386
- ClinVar Disease
- Perrault syndrome 3
- Observed Origin Sample
- inherited
Drugs