Variant (rsID / SNP)

rs120074144

rs120074144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAT1. Location: chromosome 11, position 108,012,415. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACAT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:108012415
Cytoband: 11q22.3
HGVS: NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
Allele change: Nonsense_Q272X

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.