NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626585.2
Allele description [Variation Report for NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)]
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
Condition(s)
- Name:
- Migraine
- Synonyms:
- Migraine Disorders; Migraine disorder
- Identifiers:
- MONDO: MONDO:0005277; MedGen: C0149931; Human Phenotype Ontology: HP:0002076
- Name:
- Memory impairment
- Identifiers:
- MedGen: C0233794; Human Phenotype Ontology: HP:0002354
- Name:
- Muscle spasm
- Synonyms:
- Muscle cramps; spasm of muscle
- Identifiers:
- MedGen: C0037763; Human Phenotype Ontology: HP:0003394
- Name:
- EMG: neuropathic changes
- Identifiers:
- MedGen: C4021727; Human Phenotype Ontology: HP:0003445
- Name:
- EMG: myotonic runs
- Identifiers:
- MedGen: C4025576; Human Phenotype Ontology: HP:0003730
- Name:
- Limb pain
- Identifiers:
- MedGen: C0030196; Human Phenotype Ontology: HP:0009763
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Last Updated: Sep 29, 2024