Annotation Detail
Information
- Associated Genes
- PAPSS2
- Associated Variants
-
PAPSS2 p.Tyr74Ter (p.Y74*)
(
ENST00000456849.2,
ENST00000361175.8 )
PAPSS2 p.Tyr74Ter (p.Y74*) ( ENST00000361175.8, ENST00000456849.2 ) - Associated Disease
- PAPSS2-related disorder
- Source Database
- ClinVar
- Description
- NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) AND PAPSS2-related disorder
- ClinVar Allele ID
- 496550
- ClinVar RefSeq Alternation Syntax
- NM_001015880.2:c.222C>G
- ClinVar RefSeq Alternation Syntax
- NM_004670.4:c.222C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-10-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003420054
- ClinVar Disease
- PAPSS2-related disorder
- Observed Origin Sample
- germline
Drugs