Variant (rsID / SNP)

rs199920384

rs199920384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN2. Location: chromosome 1, position 236,925,912. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ACTN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:236925912
Cytoband: 1q43
HGVS: NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly)
Allele change: Missense_D893G

Associated conditions / phenotypes

Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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