Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Arg3240Leu (p.R3240L)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Arg3240Leu (p.R3240L) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- PKHD1-related disorder
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) AND PKHD1-related disorder
- ClinVar Allele ID
- 177105
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.9719G>T
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.9719G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-12-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003416003
- ClinVar Disease
- PKHD1-related disorder
- Observed Origin Sample
- germline
Drugs