Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs766779254

RBM20

rs766779254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM20. Location: chromosome 10, position 112,541,321. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RBM20Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:112541321
Cytoband
10q25.2
HGVS
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
Allele change
Synonymous_Q318Q

Associated conditions / phenotypes

Dilated cardiomyopathy 1DD

Public references

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