NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser) AND Cardiac arrhythmia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001842204.10
Allele description [Variation Report for NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser)]
NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser)
Condition(s)
- Name:
- Cardiac arrhythmia
- Synonyms:
- Cardiac rhythm disease
- Identifiers:
- EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675
-
LOW QUALITY PROTEIN: host cell factor 1-like [Octopus sinensis]
LOW QUALITY PROTEIN: host cell factor 1-like [Octopus sinensis]gi|1914655111|ref|XP_029634815.2|Protein
-
RecName: Full=Histone-arginine methyltransferase CARM1; AltName: Full=Coactivato...
RecName: Full=Histone-arginine methyltransferase CARM1; AltName: Full=Coactivator-associated arginine methyltransferase 1; AltName: Full=Protein arginine N-methyltransferase 4gi|308153622|sp|Q86X55.3|CARM1_HUMAProtein
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Last Updated: Oct 13, 2024