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Variant (rsID / SNP)

rs2276314

C18ORF21C18orf21

rs2276314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C18ORF21, C18orf21. Location: chromosome 18, position 33,557,466. The table records no clinical significance for this variant.

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Reference-table entries

C18ORF21Not classified
Variant type
missense_variant
Chromosome / position
18:33557466
HGVS
NM_031446.5,c.394A>G,p.Thr132Ala
Allele change
Silent

Associated conditions / phenotypes

Ventricular Arrhythmias Due to Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome|Cardiac Conduction Disease with or Without Dilated Cardiomyopathy|Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.