Variant (rsID / SNP)

rs727505109

rs727505109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,436,129. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BAG3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 10:121436129
Cytoband: 10q26.11
HGVS: NM_004281.4(BAG3):c.1067del (p.Pro356fs)

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH

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.