NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) AND Congenital myotonia, autosomal recessive form
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001193451.1
Allele description [Variation Report for NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)]
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
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
-
Homo sapiens SNAP associated protein (SNAPIN), transcript variant 2, non-coding ...
Homo sapiens SNAP associated protein (SNAPIN), transcript variant 2, non-coding RNAgi|392508157|ref|NR_052019.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024