Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138498780

RYR2

rs138498780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,961,363. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RYR2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:237961363
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
Allele change
Synonymous_Y4661Y

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1

Public references

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