NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) AND Neurofibromatosis, type 1
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000206206.20
Allele description [Variation Report for NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)]
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
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
-
V(D)J recombination-activating protein 2 [Homo sapiens]
V(D)J recombination-activating protein 2 [Homo sapiens]gi|151301080|ref|NP_000527.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024