Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Arg502Leu (p.R502L)
(
ENST00000688597.1,
ENST00000687906.1,
ENST00000351677.7,
ENST00000639857.2,
ENST00000635625.1,
ENST00000690210.1 )
PTPN11 p.Arg502Leu (p.R502L) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) AND not provided
- ClinVar Allele ID
- 49024
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.1490G>T
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.1493G>T
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.1505G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000212896
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs