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Variant (rsID / SNP)

rs556465096

BAG3

rs556465096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,429,597. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BAG3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:121429597
Cytoband
10q26.11
HGVS
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
Allele change
Missense_R139W

Associated conditions / phenotypes

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

Public references

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