Variant (rsID / SNP)

rs1057517945

rs1057517945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,429,450. 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: 10:121429450
Cytoband: 10q26.11
HGVS: NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)
Allele change: Nonsense_R90X

Associated conditions / phenotypes

Dilated cardiomyopathy 1HH|Myofibrillar myopathy 6

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.