Variant (rsID / SNP)

rs876661342

rs876661342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,431,958. 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: 10:121431958
Cytoband: 10q26.11
HGVS: NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)
Allele change: Nonsense_Y233X

Associated conditions / phenotypes

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.