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Variant (rsID / SNP)

rs267607004

RBM20

rs267607004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,572,062. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RBM20Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:112572062
Cytoband
10q25.2
HGVS
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
Allele change
Missense_R636H

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD|Primary dilated cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiomyopathy

Public references

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