Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Arg265Gln (p.R265Q)
(
ENST00000392597.5,
ENST00000688597.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000687906.1,
ENST00000351677.7,
ENST00000690210.1 )
PTPN11 p.Arg265Gln (p.R265Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- metachondromatosis LEOPARD syndrome 1 Noonan syndrome 1 juvenile myelomonocytic leukemia
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND multiple conditions
- ClinVar Allele ID
- 48992
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.791G>A
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.794G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.794G>A
- ClinVar RefSeq Alternation Syntax
- NM_080601.3:c.794G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001536068
- ClinVar Disease
- LEOPARD syndrome 1
- ClinVar Disease
- Juvenile myelomonocytic leukemia
- ClinVar Disease
- Noonan syndrome 1
- ClinVar Disease
- Metachondromatosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs