NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001042344.9
Allele description [Variation Report for NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu)]
NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Concise Conserved Domain Links for Protein (Select 459667788) (1)
Conserved Domains
-
transport protein SEC22, partial [Lutzomyia longipalpis]
transport protein SEC22, partial [Lutzomyia longipalpis]gi|459667788|gb|AGG80913.1|Protein
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Last Updated: Sep 29, 2024