Variant (rsID / SNP)

rs120074141

rs120074141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAT1. Location: chromosome 11, position 108,009,736. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACAT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:108009736
Cytoband: 11q22.3
HGVS: NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
Allele change: Missense_G183R

Associated conditions / phenotypes

Deficiency of acetyl-CoA acetyltransferase

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.