Variant (rsID / SNP)
rs201370621
rs201370621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,581,039. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RBM20Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:112581039
- Cytoband
- 10q25.2
- HGVS
- NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
- Allele change
- Missense_D888N
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Dilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Cardiac arrest|Cardiomyopathy|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.