NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) 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:
- RCV000626630.3
Allele description [Variation Report for NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)]
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
Condition(s)
- Name:
- Obesity
- Synonyms:
- Obesity disorder
- Identifiers:
- MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
- Name:
- Prolonged QT interval
- Identifiers:
- MedGen: C0151878; Human Phenotype Ontology: HP:0001657
Assertion and evidence details
Last Updated: Feb 20, 2024