NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His) AND Cardiac arrhythmia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001841612.10
Allele description [Variation Report for NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)]
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)
Condition(s)
- Name:
- Cardiac arrhythmia
- Synonyms:
- Cardiac rhythm disease
- Identifiers:
- EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675
-
Homo sapiens tRNA methyltransferase 2 homolog B (TRMT2B), transcript variant 2, ...
Homo sapiens tRNA methyltransferase 2 homolog B (TRMT2B), transcript variant 2, mRNAgi|1890346385|ref|NM_001167970.2|Nucleotide
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Last Updated: Oct 20, 2024