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Variant (rsID / SNP)

rs869248137

BAG3

rs869248137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,435,991. Clinical significance in the table: Pathogenic.

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Reference-table entries

BAG3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:121435991
Cytoband
10q26.11
HGVS
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
Allele change
Nonsense_R309X

Associated conditions / phenotypes

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

Public references

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