NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) AND Jervell and Lange-Nielsen syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000327774.13
Allele description [Variation Report for NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)]
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
Condition(s)
- Name:
- Jervell and Lange-Nielsen syndrome 1 (JLNS1)
- Synonyms:
- Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome of Jervell and Lange-Nielsen; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024540; MedGen: C4551509; Orphanet: 768; Orphanet: 90647; OMIM: 220400
Assertion and evidence details
Last Updated: Oct 8, 2024