NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001223937.7
Allele description
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter)
Condition(s)
- Name:
- Congenital myotonia, autosomal recessive form
- Synonyms:
- Myotonia congenita autosomal recessive; Becker disease; Myotonia generalized; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009715; MedGen: C0751360; Orphanet: 614; OMIM: 255700
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[Candida] auris strain SCO_242 chromosome 1
[Candida] auris strain SCO_242 chromosome 1gi|2783350954|gb|CP163318.1|Nucleotide
-
AGENCOURT_74309221 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8541550 5', ...
AGENCOURT_74309221 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8541550 5', mRNA sequencegi|92074517|gnl|dbEST|38004857|gb|E 87.1|Nucleotide
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AU245331 Shibata Xenopus AEM lambda-ZAP II cDNA library Xenopus laevis cDNA clon...
AU245331 Shibata Xenopus AEM lambda-ZAP II cDNA library Xenopus laevis cDNA clone p14d9 5', mRNA sequencegi|18851271|gnl|dbEST|11150246|dbj| 331.1|Nucleotide
-
AU245064 Shibata Xenopus AEM lambda-ZAP II cDNA library Xenopus laevis cDNA clon...
AU245064 Shibata Xenopus AEM lambda-ZAP II cDNA library Xenopus laevis cDNA clone p9f4 5', mRNA sequencegi|18850997|gnl|dbEST|11149979|dbj| 064.1|Nucleotide
-
JGI_XZG48353.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7562804 3'...
JGI_XZG48353.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7562804 3', mRNA sequencegi|72203657|gnl|dbEST|30663387|gb|C 75.2|Nucleotide
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Last Updated: Sep 16, 2024