Variant (rsID / SNP)

rs267607002

rs267607002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,572,061. 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: 10:112572061
Cytoband: 10q25.2
HGVS: NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
Allele change: Missense_R636S

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD|Primary dilated 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.