NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000701519.5
Allele description [Variation Report for NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)]
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
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
Assertion and evidence details
Last Updated: Oct 8, 2024