NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000762884.2
Allele description [Variation Report for NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)]
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
Condition(s)
- Name:
- Noonan syndrome 1 (NS1)
- Synonyms:
- Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
- Identifiers:
- MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950
- Name:
- Juvenile myelomonocytic leukemia (JMML)
- Synonyms:
- LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
- Identifiers:
- MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209
Assertion and evidence details
Last Updated: Oct 13, 2024