NM_000268.4(NF2):c.1521C>T (p.Phe507=) AND Neurofibromatosis, type 2
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001439940.9
Allele description [Variation Report for NM_000268.4(NF2):c.1521C>T (p.Phe507=)]
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
Condition(s)
- Name:
- Neurofibromatosis, type 2 (SWNV)
- Synonyms:
- NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000
-
hypothetical protein FLJ33918 [Homo sapiens]
hypothetical protein FLJ33918 [Homo sapiens]gi|22748863|ref|NP_689620.1|Protein
-
Pathogen: environmental/food/other sample from Fusarium verticillioides
Pathogen: environmental/food/other sample from Fusarium verticillioidesbiosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024