NM_000530.8(MPZ):c.648G>A (p.Thr216=) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002881473.2
Allele description
NM_000530.8(MPZ):c.648G>A (p.Thr216=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type I (CMT1)
- Synonyms:
- Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
- Identifiers:
- MONDO: MONDO:0019011; MedGen: C0751036
-
ZFP82 ZFP82 zinc finger protein [Homo sapiens]
ZFP82 ZFP82 zinc finger protein [Homo sapiens]Gene ID:284406Gene
-
284406[uid] AND (alive[prop]) (1)
Gene
-
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2IMedGen
-
C3888087[conceptid] (1)
MedGen
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Last Updated: Feb 20, 2024