NM_000166.6(GJB1):c.220G>C (p.Val74Leu) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001895649.3
Allele description
NM_000166.6(GJB1):c.220G>C (p.Val74Leu)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
-
mitochondrial elongation factor Ts [Homo sapiens]
mitochondrial elongation factor Ts [Homo sapiens]gi|311349270|gb|ADP91800.1|Protein
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Last Updated: Feb 20, 2024