Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ser2639Ter (p.S2639*)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Ser2639Ter (p.S2639*) ( ENST00000340994.4, ENST00000371117.8 ) - Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) AND Abnormality of the genitourinary system
- ClinVar Allele ID
- 186709
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.7916C>A
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.7916C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001814084
- Observed Origin Sample
- germline
Drugs