Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ile3555Lys (p.I3555K)
(
ENST00000371117.8 )
PKHD1 p.Ile3555Lys (p.I3555K) ( ENST00000371117.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys) AND not provided
- ClinVar Allele ID
- 195478
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.10664T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-05-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000179598
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs