Variant (rsID / SNP)
rs141281214
rs141281214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,015,989. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCC9Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:22015989
- Cytoband
- 12p12.1
- HGVS
- NM_020297.4(ABCC9):c.2238-1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Cardiovascular phenotype|Dilated cardiomyopathy 1O|ABCC9-Related Disorders|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
