NM_000166.6(GJB1):c.345dup (p.His116fs) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003742128.1
Allele description [Variation Report for NM_000166.6(GJB1):c.345dup (p.His116fs)]
NM_000166.6(GJB1):c.345dup (p.His116fs)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
-
NADH dehydrogenase subunit 5 (mitochondrion) [Procypris rabaudi]
NADH dehydrogenase subunit 5 (mitochondrion) [Procypris rabaudi]gi|197935807|gnl|NCBI_MITO|ND5_2285 |YP_002213576.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024