Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Thr73Leu (p.T73L)
(
ENST00000688597.1,
ENST00000392597.5,
ENST00000690210.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000687906.1,
ENST00000351677.7 )
PTPN11 p.Thr73Leu (p.T73L) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Noonan syndrome 1
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) AND Noonan syndrome 1
- ClinVar Allele ID
- 53771
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003996327
- ClinVar Disease
- Noonan syndrome 1
- Observed Origin Sample
- de novo
Drugs