Variant (rsID / SNP)

rs121909531

rs121909531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA1. Location: chromosome 1, position 229,567,380. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACTA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:229567380
Cytoband: 1q42.13
HGVS: NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
Allele change: Missense_P334S

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion

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.