NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) AND Catecholaminergic polymorphic ventricular tachycardia 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003338437.1
Allele description [Variation Report for NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)]
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)
Condition(s)
-
Homo sapiens glutathione peroxidase 8 (putative) (GPX8), transcript variant 5, n...
Homo sapiens glutathione peroxidase 8 (putative) (GPX8), transcript variant 5, non-coding RNAgi|1700447871|ref|NR_131336.2|Nucleotide
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Nototheniidae polycystic kidney disease 1 (pkd1) gene, exon 20 and partial cds.
Nototheniidae polycystic kidney disease 1 (pkd1) gene, exon 20 and partial cds.PopSet: 329750287PopSet
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"1245271-19-5"[CompleteSynonym] (0)
PubChem Compound
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024