NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003318367.9
Allele description [Variation Report for NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)]
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
LOC120893136 [Homo sapiens]
LOC120893136 [Homo sapiens]Gene ID:120893136Gene
-
txid677928[Organism:noexp] (3)
PopSet
-
PREDICTED: Homo sapiens OCA2 melanosomal transmembrane protein (OCA2), transcrip...
PREDICTED: Homo sapiens OCA2 melanosomal transmembrane protein (OCA2), transcript variant X1, mRNAgi|2462544365|ref|XM_054378075.1|Nucleotide
-
Concise Conserved Domain Links for Protein (Select 733760532) (1)
Conserved Domains
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See more...Assertion and evidence details
Last Updated: May 12, 2024