Variant (rsID / SNP)
rs144770680
rs144770680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD1. Location: chromosome 10, position 92,675,311. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ANKRD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:92675311
- Cytoband
- 10q23.31
- HGVS
- NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
- Allele change
- Missense_I280V
Associated conditions / phenotypes
ANKRD1-related dilated cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.