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Variant (rsID / SNP)

rs267607003

RBM20

rs267607003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,572,068. Clinical significance in the table: Pathogenic.

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Reference-table entries

RBM20Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:112572068
Cytoband
10q25.2
HGVS
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
Allele change
Missense_P638L

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1S|Cardiovascular phenotype|Dilated cardiomyopathy 1A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.