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Variant (rsID / SNP)

rs563762318

RBM20

rs563762318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,590,912. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RBM20Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:112590912
Cytoband
10q25.2
HGVS
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
Allele change
Missense_R1182H

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1DD

Public references

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