NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001206446.6
Allele description [Variation Report for NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys)]
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys)
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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See more...Assertion and evidence details
Last Updated: Feb 7, 2023