Annotation Detail
Information
- Associated Genes
- PTH
- Associated Variants
-
PTH c.87-50G>A
(
ENST00000529816.1,
ENST00000282091.6 )
PTH c.87-50G>A ( ENST00000282091.6, ENST00000529816.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000315.4(PTH):c.87-50G>A AND not provided
- ClinVar Allele ID
- 1279660
- ClinVar RefSeq Alternation Syntax
- NM_001316352.2:c.183-50G>A
- ClinVar RefSeq Alternation Syntax
- NM_000315.4:c.87-50G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001714777
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs