Variant (rsID / SNP)
rs150797476
rs150797476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD1. Location: chromosome 10, position 92,679,936. 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
- 10:92679936
- Cytoband
- 10q23.31
- HGVS
- NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
- Allele change
- Missense_R66Q
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Cardiovascular phenotype|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.
