NM_000083.3(CLCN1):c.1472-19C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003797244.2
Allele description [Variation Report for NM_000083.3(CLCN1):c.1472-19C>T]
NM_000083.3(CLCN1):c.1472-19C>T
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
-
G protein-coupled receptor kinase 5 [Bos taurus]
G protein-coupled receptor kinase 5 [Bos taurus]gi|27805901|ref|NP_776756.1|Protein
-
hypothetical protein BV898_19069 [Hypsibius exemplaris]
hypothetical protein BV898_19069 [Hypsibius exemplaris]gi|1204717506|gb|OWA54670.1||gnl|WG J|BV898_19069.1Protein
-
hypothetical protein BV898_11974 [Hypsibius exemplaris]
hypothetical protein BV898_11974 [Hypsibius exemplaris]gi|1174745385|gb|OQV13753.1||gnl|WG J|BV898_11974.1Protein
-
SRP482599 (22)
SRA
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024