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Variant (rsID / SNP)

rs200529923

ACTN2

rs200529923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN2. Location: chromosome 1, position 236,911,012. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACTN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:236911012
Cytoband
1q43
HGVS
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
Allele change
Synonymous_Q484Q

Associated conditions / phenotypes

Dilated cardiomyopathy 1AA|Cardiovascular phenotype|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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