NM_000267.3(NF1):c.2142T>C (p.Cys714=) AND Neurofibromatosis, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000227128.2
Allele description
NM_000267.3(NF1):c.2142T>C (p.Cys714=)
Condition(s)
- Name:
- Neurofibromatosis, type 1 (NF1)
- Synonyms:
- NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, PERIPHERAL TYPE; Neurofibromatosis-Noonan syndrome; See all synonyms [MedGen]
- Identifiers:
- MedGen: C0027831; Orphanet: 636; OMIM: 162200
Assertion and evidence details
Last Updated: Nov 2, 2019