NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 26, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000462782.1
Allele description [Variation Report for NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])]
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
-
PREDICTED: Xenopus laevis erythrocyte membrane protein band 4.1 like 4A S homeol...
PREDICTED: Xenopus laevis erythrocyte membrane protein band 4.1 like 4A S homeolog (epb41l4a.S), transcript variant X4, mRNAgi|2038133084|ref|XM_018235866.2|Nucleotide
-
MULTISPECIES: integration host factor subunit beta [Sinorhizobium]
MULTISPECIES: integration host factor subunit beta [Sinorhizobium]gi|489623273|ref|WP_003527713.1|Protein
-
MULTISPECIES: SlyX family protein [Cronobacter]
MULTISPECIES: SlyX family protein [Cronobacter]gi|495053888|ref|WP_007778724.1|Protein
-
Pe93Q2B7R Ped-B-Flav: Passiflora edulis BAC "Passiflora" Library Passiflora edul...
Pe93Q2B7R Ped-B-Flav: Passiflora edulis BAC "Passiflora" Library Passiflora edulis f. flavicarpa genomic, genomic survey sequencegi|758269628|gnl|dbGSS|39088996|gb| 926.1|Nucleotide
-
Pe84Q3F3R Ped-B-Flav: Passiflora edulis BAC "Passiflora" Library Passiflora edul...
Pe84Q3F3R Ped-B-Flav: Passiflora edulis BAC "Passiflora" Library Passiflora edulis f. flavicarpa genomic, genomic survey sequencegi|758269634|gnl|dbGSS|39089002|gb| 932.1|Nucleotide
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Last Updated: May 7, 2024