Variant (rsID / SNP)
rs144678100
rs144678100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,436,654. 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
- 10:121436654
- Cytoband
- 10q26.11
- HGVS
- NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
- Allele change
- Missense_V530M
Associated conditions / phenotypes
Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH|Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.