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Variant (rsID / SNP)

rs191342808

RBM20

rs191342808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,540,591. 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
10:112540591
Cytoband
10q25.2
HGVS
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
Allele change
Missense_S75L

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD|Cardiomyopathy

Public references

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