Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Ile282Val (p.I282V)
(
ENST00000351677.7,
ENST00000392597.5,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Ile282Val (p.I282V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- LEOPARD syndrome 1 Noonan syndrome 1
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions
- ClinVar Allele ID
- 48995
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.844A>G
- ClinVar RefSeq Alternation Syntax
- NM_080601.3:c.844A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.841A>G
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.844A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003153317
- ClinVar Disease
- LEOPARD syndrome 1
- ClinVar Disease
- Noonan syndrome 1
- Observed Origin Sample
- de novo
Drugs