Variant (rsID / SNP)

rs750908017

rs750908017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,439. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:237947439
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)
Allele change: Missense_K4143Q

Associated conditions / phenotypes

Cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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