NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482941.1
Allele description [Variation Report for NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)]
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
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
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ugpA sn-glycerol 3-phosphate ABC transporter membrane subunit UgpA [Escherichia ...
ugpA sn-glycerol 3-phosphate ABC transporter membrane subunit UgpA [Escherichia coli str. K-12 substr. MG1655]Gene ID:947957Gene
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Last Updated: Sep 29, 2024