Annotation Detail
Information
- Associated Genes
- PTH1R
- Associated Variants
-
PTH1R p.His223Arg (p.H223R)
(
ENST00000313049.9,
ENST00000418619.5,
ENST00000430002.6,
ENST00000449590.6 )
PTH1R p.His223Arg (p.H223R) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 ) - Associated Disease
- Metaphyseal chondrodysplasia, Jansen type
- Source Database
- ClinVar
- Description
- NM_000316.3(PTH1R):c.668A>G (p.His223Arg) AND Metaphyseal chondrodysplasia, Jansen type
- ClinVar Allele ID
- 28781
- ClinVar RefSeq Alternation Syntax
- NM_000316.3:c.668A>G
- ClinVar RefSeq Alternation Syntax
- NM_001184744.1:c.668A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-09-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014749
- ClinVar Disease
- Metaphyseal chondrodysplasia, Jansen type
- Observed Origin Sample
- germline
- Pubmed
- 8076140
- Pubmed
- 7701349
- Pubmed
- 8703170
Drugs