NM_001042492.3(NF1):c.2250A>G (p.Thr750=) AND Neurofibromatosis, type 1
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001078843.12
Allele description [Variation Report for NM_001042492.3(NF1):c.2250A>G (p.Thr750=)]
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
Condition(s)
- Name:
- Neurofibromatosis, type 1 (NF1)
- Synonyms:
- NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200
Assertion and evidence details
Last Updated: Sep 29, 2024