NM_001122955.4(BSCL2):c.747A>G (p.Ala249=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003581499.2
Allele description [Variation Report for NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)]
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
LOC118412844 [Branchiostoma floridae]
LOC118412844 [Branchiostoma floridae]Gene ID:118412844Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024