NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) AND Neurofibroma
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000787332.8
Allele description [Variation Report for NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)]
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
Condition(s)
- Name:
- Neurofibroma
- Identifiers:
- MONDO: MONDO:0016755; MeSH: D009455; MedGen: C0027830; Human Phenotype Ontology: HP:0001067
Assertion and evidence details
Last Updated: Jan 13, 2025