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:
- RCV001223937.8
Allele description [Variation Report for NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter)]
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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Human DNA sequence from clone CH17-80A12 on chromosome 9, complete sequence
Human DNA sequence from clone CH17-80A12 on chromosome 9, complete sequencegi|261857414|emb|FP325318.4|Nucleotide
-
55c4 Human retina cDNA randomly primed sublibrary Homo sapiens cDNA, mRNA sequen...
55c4 Human retina cDNA randomly primed sublibrary Homo sapiens cDNA, mRNA sequencegi|1308987|gnl|dbEST|536107|gb|W290Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024