Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Glu139Asp (p.E139D)
(
ENST00000392597.5,
ENST00000351677.7,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Global developmental delay Pectus excavatum ptosis microcephaly
- Source Database
- ClinVar
- Description
- NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions
- ClinVar Allele ID
- 48983
- ClinVar RefSeq Alternation Syntax
- NM_001330437.2:c.417G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374625.1:c.414G>C
- ClinVar RefSeq Alternation Syntax
- NM_002834.5:c.417G>C
- ClinVar RefSeq Alternation Syntax
- NM_080601.3:c.417G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001003604
- ClinVar Disease
- Global developmental delay
- ClinVar Disease
- Ptosis
- ClinVar Disease
- Pectus excavatum
- ClinVar Disease
- Microcephaly
- Observed Origin Sample
- unknown
Drugs