Variant (rsID / SNP)

rs563500712

rs563500712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,404,343. Clinical significance in the table: Likely benign.

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Reference-table entries

RBM20Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:112404343
Cytoband: 10q25.2
HGVS: NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)
Allele change: Missense_P44Q

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD

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.