NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) AND Congenital myotonia, autosomal recessive form
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003338626.2
Allele description [Variation Report for NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)]
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
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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Homo sapiens matrix remodeling associated 8 (MXRA8), transcript variant 4, mRNA
Homo sapiens matrix remodeling associated 8 (MXRA8), transcript variant 4, mRNAgi|1677530683|ref|NM_001282583.2|Nucleotide
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Homo sapiens matrix remodeling associated 8 (MXRA8), transcript variant 3, mRNA
Homo sapiens matrix remodeling associated 8 (MXRA8), transcript variant 3, mRNAgi|1890259879|ref|NM_001282584.2|Nucleotide
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cadherin EGF LAG seven-pass G-type receptor 3 precursor [Rattus norvegicus]
cadherin EGF LAG seven-pass G-type receptor 3 precursor [Rattus norvegicus]gi|13786140|ref|NP_112610.1|Protein
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Last Updated: Sep 29, 2024