NM_000166.6(GJB1):c.548G>A (p.Arg183His) AND Charcot-Marie-Tooth disease X-linked dominant 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002248750.2
Allele description [Variation Report for NM_000166.6(GJB1):c.548G>A (p.Arg183His)]
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
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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Photobacterium leiognathi lux operon (luxC, luxD, luxA, luxB, luxE, luxG) genes,...
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txid7955[organism] AND (rufy2[gene symbol] OR (BC134954 OR BC1349... (19)
txid7955[organism] AND (rufy2[gene symbol] OR (BC134954 OR BC134954.* OR BC155635 OR BC155635.* OR AW279704 OR AW279704.* OR AW280634 OR AW280634.* OR GFIL01034253 OR GFIL01034253.* OR BC155635 OR BC155635.* OR BC134954 OR BC134954.* OR XM_005156875 OR XM_005156875.* OR NM_001244919 OR NM_001244919.* OR NM_001105681 OR NM_001105681.*))SearchGEO Profiles
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Ceratotherium simum simum isolate SDZICR_KB13650 contig049303, whole genome shot...
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Last Updated: Oct 20, 2024