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Variant (rsID / SNP)

rs117671123

BAG3

rs117671123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,432,031. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BAG3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:121432031
Cytoband
10q26.11
HGVS
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
Allele change
Missense_R258W

Associated conditions / phenotypes

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

Public references

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