NM_000268.4(NF2):c.924G>A (p.Met308Ile) AND Neurofibromatosis, type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001944117.4
Allele description [Variation Report for NM_000268.4(NF2):c.924G>A (p.Met308Ile)]
NM_000268.4(NF2):c.924G>A (p.Met308Ile)
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
-
FERP_RS08415 [Ferroglobus placidus DSM 10642]
FERP_RS08415 [Ferroglobus placidus DSM 10642]Gene ID:8779206Gene
-
8779206[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024