Variant (rsID / SNP)

rs397516616

rs397516616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,595,619. 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: 10:112595619
Cytoband: 10q25.2
HGVS: NM_001134363.3(RBM20):c.3574-7T>G
Allele change: Silent

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD|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.