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Variant (rsID / SNP)

rs397517249

ANKRD1

rs397517249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD1. Location: chromosome 10, position 92,679,937. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANKRD1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:92679937
Cytoband
10q23.31
HGVS
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly)
Allele change
Missense_R66G

Associated conditions / phenotypes

Cardiovascular phenotype|ANKRD1-related dilated cardiomyopathy|Primary dilated cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.