NM_000083.3(CLCN1):c.1707G>T (p.Val569=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003788084.2
Allele description [Variation Report for NM_000083.3(CLCN1):c.1707G>T (p.Val569=)]
NM_000083.3(CLCN1):c.1707G>T (p.Val569=)
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
-
MAP kinase-activated protein kinase 5 isoform 10 [Homo sapiens]
MAP kinase-activated protein kinase 5 isoform 10 [Homo sapiens]gi|1704602929|ref|NP_001358415.1|Protein
-
2'-5'-oligoadenylate synthase-like protein isoform a [Homo sapiens]
2'-5'-oligoadenylate synthase-like protein isoform a [Homo sapiens]gi|11321577|ref|NP_003724.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024