Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ile3553Thr (p.I3553T)
(
ENST00000371117.8 )
PKHD1 p.Ile3553Thr (p.I3553T) ( ENST00000371117.8 ) - Associated Disease
- PKHD1-related disorder
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) AND PKHD1-related disorder
- ClinVar Allele ID
- 19152
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.10658T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003415648
- ClinVar Disease
- PKHD1-related disorder
- Observed Origin Sample
- germline
Drugs