Variant (rsID / SNP)

rs200631005

rs200631005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN2. Location: chromosome 1, position 236,914,861. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ACTN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:236914861
Cytoband: 1q43
HGVS: NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
Allele change: Missense_E583G

Associated conditions / phenotypes

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

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.