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Variant (rsID / SNP)

rs149554430

ACTN2

rs149554430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN2. Location: chromosome 1, position 236,925,802. 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
1:236925802
Cytoband
1q43
HGVS
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
Allele change
Synonymous_P856P

Associated conditions / phenotypes

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

Public references

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