Annotation Detail
Information
- Associated Genes
- RMRP
- Associated Variants
-
NR_003051.4(RMRP):n.37C>T
NR_003051.4(RMRP):n.37C>T - Associated Disease
- anauxetic dysplasia
- Source Database
- ClinVar
- Description
- NR_003051.4(RMRP):n.37C>T AND Anauxetic dysplasia
- ClinVar Allele ID
- 524979
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000641006
- ClinVar Disease
- Anauxetic dysplasia
- Observed Origin Sample
- germline
Drugs