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Variant (rsID / SNP)

rs121909530

ACTA1

rs121909530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA1. Location: chromosome 1, position 229,567,881. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACTA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:229567881
Cytoband
1q42.13
HGVS
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
Allele change
Missense_L223P

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion|Actin accumulation myopathy

Public references

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