NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND Noonan syndrome and Noonan-related syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813194.11
Allele description [Variation Report for NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)]
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
Condition(s)
-
Galnt6 polypeptide N-acetylgalactosaminyltransferase 6 [Mus musculus]
Galnt6 polypeptide N-acetylgalactosaminyltransferase 6 [Mus musculus]Gene ID:207839Gene
-
207839[uid] AND (alive[prop]) (1)
Gene
-
ubxn10 UBX domain protein 10 [Danio rerio]
ubxn10 UBX domain protein 10 [Danio rerio]Gene ID:751736Gene
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Last Updated: Oct 20, 2024