Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Pro495His (p.P495H)
(
ENST00000688597.1,
ENST00000690210.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000687906.1,
ENST00000351677.7 )
PTPN11 p.Pro495His (p.P495H) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- RASopathy
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) AND RASopathy
- ClinVar Allele ID
- 49021
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.1472C>A
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.1484C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.1469C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001378165
- ClinVar Disease
- RASopathy
- Observed Origin Sample
- germline
Drugs