NM_000166.6(GJB1):c.852A>G (p.Ter284Trp) AND Charcot-Marie-Tooth disease X-linked dominant 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003447409.1
Allele description [Variation Report for NM_000166.6(GJB1):c.852A>G (p.Ter284Trp)]
NM_000166.6(GJB1):c.852A>G (p.Ter284Trp)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease X-linked dominant 1
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800
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cytochrome c oxidase subunit I, partial (mitochondrion) [Diaphus brachycephalus]
cytochrome c oxidase subunit I, partial (mitochondrion) [Diaphus brachycephalus]gi|2194525962|gb|ULB36354.1|Protein
-
Ostorhinchus cyanosoma
Ostorhinchus cyanosomaOstorhinchus cyanosomaBioProject
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See more...Assertion and evidence details
Last Updated: Dec 17, 2023