Variant (rsID / SNP)

rs189569984

rs189569984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,544,125. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RBM20Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:112544125
Cytoband: 10q25.2
HGVS: NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
Allele change: Missense_S455L

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Dilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome

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.