NM_030962.4(SBF2):c.5410A>G (p.Met1804Val) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000529105.10
Allele description [Variation Report for NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)]
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
eggcsite.comYnr (0)
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Last Updated: Oct 14, 2023