NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001916440.3
Allele description [Variation Report for NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe)]
NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
olfactory receptor 5K4 [Homo sapiens]
olfactory receptor 5K4 [Homo sapiens]gi|53933287|ref|NP_001005517.1|Protein
-
Caenorhabditis elegans Homeobox domain-containing protein (K10C9.7), mRNA
Caenorhabditis elegans Homeobox domain-containing protein (K10C9.7), mRNAgi|1972285857|ref|NM_070971.4|Nucleotide
-
Caenorhabditis elegans MARVEL domain-containing protein (clc-13), partial mRNA
Caenorhabditis elegans MARVEL domain-containing protein (clc-13), partial mRNAgi|392922500|ref|NM_074906.2|Nucleotide
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Last Updated: Sep 29, 2024