NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) AND Cardiac arrhythmia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 4, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001841647.10
Allele description [Variation Report for NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)]
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
Condition(s)
- Name:
- Cardiac arrhythmia
- Synonyms:
- Cardiac rhythm disease
- Identifiers:
- EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675
-
RecName: Full=Chondrolectin; AltName: Full=Transmembrane protein MT75; Flags: Pr...
RecName: Full=Chondrolectin; AltName: Full=Transmembrane protein MT75; Flags: Precursorgi|18202949|sp|Q9H9P2.2|CHODL_HUMANProtein
-
CTBP2 [Macaca nemestrina]
CTBP2 [Macaca nemestrina]Gene ID:105470205Gene
-
COX2 [Cheilinus undulatus]
COX2 [Cheilinus undulatus]Gene ID:8774886Gene
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Last Updated: Oct 13, 2024