Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gln514Arg (p.Q514R)
(
ENST00000688597.1,
ENST00000690210.1,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000351677.7 )
PTPN11 p.Gln514Arg (p.Q514R) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- LEOPARD syndrome 1
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) AND LEOPARD syndrome 1
- ClinVar Allele ID
- 28384
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.1526A>G
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.1529A>G
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.1541A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001002770
- ClinVar Disease
- LEOPARD syndrome 1
- Observed Origin Sample
- de novo
Drugs