Annotation Detail
Information
- Associated Genes
- RMRP
- Associated Variants
-
NR_003051.4(RMRP):n.37C>T
NR_003051.4(RMRP):n.37C>T - Associated Disease
- Metaphyseal chondrodysplasia, McKusick type
- Source Database
- ClinVar
- Description
- NR_003051.4(RMRP):n.37C>T AND Metaphyseal chondrodysplasia, McKusick type
- ClinVar Allele ID
- 524979
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001273834
- ClinVar Disease
- Metaphyseal chondrodysplasia, McKusick type
- Observed Origin Sample
- germline
Drugs