NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000891829.9
Allele description [Variation Report for NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=)]
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Mus musculus ornithine transcarbamylase (Otc), mRNA; nuclear gene for mitochondr...
Mus musculus ornithine transcarbamylase (Otc), mRNA; nuclear gene for mitochondrial productgi|894216089|ref|NM_008769.4|Nucleotide
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Last Updated: Sep 29, 2024