Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Phe285Val (p.F285V)
(
ENST00000688597.1,
ENST00000392597.5,
ENST00000690210.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000687906.1,
ENST00000351677.7 )
PTPN11 p.Phe285Val (p.F285V) ( 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.853T>G (p.Phe285Val) AND multiple conditions
- ClinVar Allele ID
- 48997
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.850T>G
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.853T>G
- ClinVar RefSeq Alternation Syntax
- NM_080601.3:c.853T>G
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.853T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003224796
- ClinVar Disease
- LEOPARD syndrome 1
- ClinVar Disease
- Juvenile myelomonocytic leukemia
- ClinVar Disease
- Noonan syndrome 1
- ClinVar Disease
- Metachondromatosis
- Observed Origin Sample
- germline
Drugs