NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 9, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000414860.9
Allele description [Variation Report for NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)]
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
Condition(s)
- Name:
- Myotonia
- Identifiers:
- MedGen: C0700153; Human Phenotype Ontology: HP:0002486
- Name:
- Handgrip myotonia
- Identifiers:
- MedGen: C1868623; Human Phenotype Ontology: HP:0012899
Assertion and evidence details
Last Updated: Apr 20, 2024