Annotation Detail
Information
- Associated Genes
- PTH1R
- Associated Variants
-
PTH1R p.His223Arg (p.H223R)
(
ENST00000313049.9,
ENST00000418619.5,
ENST00000430002.6,
ENST00000449590.6 )
PTH1R p.Thr410Pro (p.T410P) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Thr410Arg (p.T410R) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Thr410Met (p.T410M) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Ile458Arg (p.I458R) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.His223Arg (p.H223R) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Thr410Pro (p.T410P) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Thr410Arg (p.T410R) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Thr410Met (p.T410M) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 )
PTH1R p.Ile458Arg (p.I458R) ( ENST00000313049.9, ENST00000418619.5, ENST00000430002.6, ENST00000449590.6 ) - Associated Disease
- Jansen type metaphyseal chondrodysplasia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- NA
Drugs