NM_000166.6(GJB1):c.548G>A (p.Arg183His) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000654852.12
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 Neuropathy X
- Identifiers:
- MedGen: CN118851
-
Photobacterium leiognathi strain lnuch.21.1 proline dehydrogenase (putA) gene, p...
Photobacterium leiognathi strain lnuch.21.1 proline dehydrogenase (putA) gene, partial cds; LumQ (lumQ) gene, complete cds; lux-rib copy 1 operon, complete sequence; and hypothetical multidrug resistance efflux pump gene, partial cdsgi|154124921|gb|EF536335.1|Nucleotide
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Photobacterium leiognathi lux operon (luxC, luxD, luxA, luxB, luxE, luxG) genes,...
Photobacterium leiognathi lux operon (luxC, luxD, luxA, luxB, luxE, luxG) genes, complete cdsgi|150687|gb|M63594.1|PHRLUXNucleotide
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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...
Ceratotherium simum simum isolate SDZICR_KB13650 contig049303, whole genome shotgun sequencegi|398422076|gb|AKZM01049303.1||gnl AKZM01|contig049303Nucleotide
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Last Updated: Oct 20, 2024