Variant (rsID / SNP)
rs794728981
rs794728981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,436,333. Clinical significance in the table: Pathogenic.
Reference-table entries
BAG3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 10:121436333
- Cytoband
- 10q26.11
- HGVS
- NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs)
Associated conditions / phenotypes
Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.