Annotation Detail
Information
- Associated Genes
- PTH1R
- Associated Variants
-
PTH1R p.Leu250Pro (p.L250P)
(
ENST00000313049.9,
ENST00000418619.5,
ENST00000430002.6,
ENST00000449590.6 )
PTH1R p.Leu250Pro (p.L250P) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 ) - Associated Disease
- Eiken syndrome chondrodysplasia Blomstrand type primary failure of tooth eruption Metaphyseal chondrodysplasia, Jansen type
- Source Database
- ClinVar
- Description
- NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) AND multiple conditions
- ClinVar Allele ID
- 1429310
- ClinVar RefSeq Alternation Syntax
- NM_000316.3:c.749T>C
- ClinVar RefSeq Alternation Syntax
- NM_001184744.1:c.749T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002492113
- ClinVar Disease
- Eiken syndrome
- ClinVar Disease
- Metaphyseal chondrodysplasia, Jansen type
- ClinVar Disease
- Chondrodysplasia Blomstrand type
- ClinVar Disease
- Primary failure of tooth eruption
- Observed Origin Sample
- unknown
Drugs