Variant (rsID / SNP)
rs775151738
rs775151738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,429,647. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BAG3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:121429647
- Cytoband
- 10q26.11
- HGVS
- NM_004281.4(BAG3):c.465A>G (p.Ala155=)
- Allele change
- Synonymous_A155A
Associated conditions / phenotypes
Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH|Dilated cardiomyopathy 1HH|Myofibrillar myopathy 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
