NM_000218.2(KCNQ1):c.716T>C (p.Leu239Pro) AND Long QT syndrome, LQT1 subtype
- Germline classification:
- not provided (1 submission)
- Last evaluated:
- Feb 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000046109.2
Allele description
NM_000218.2(KCNQ1):c.716T>C (p.Leu239Pro)
Condition(s)
- Name:
- Long QT syndrome, LQT1 subtype
- Identifiers:
- MedGen: CN177655
Assertion and evidence details
Last Updated: Dec 7, 2017