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Variant (rsID / SNP)

rs145387010

ANKRD1

rs145387010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD1. Location: chromosome 10, position 92,678,707. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANKRD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:92678707
Cytoband
10q23.31
HGVS
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
Allele change
Missense_T123M

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|ANKRD1-related dilated cardiomyopathy|Cardiovascular phenotype|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A

Public references

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