Deficiency of acetyl-CoA acetyltransferase
An Autosomal recessive mode(s) within the Metabolic disorders category
Pathogenic
1
Pathogenic/Likely pathogenic
3
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000019.4(ACAT1):c.731-2A>G | Single nucleotide variant | Chr11:108141603 | Pathogenic | Splice acceptor variant | rs752216720 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000019.4(ACAT1):c.238+2T>A | Single nucleotide variant | Chr11:108133939 | Pathogenic/Likely pathogenic | Splice donor variant|intron variant | rs2135334862 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) | Single nucleotide variant | Chr11:108146320 | Pathogenic/Likely pathogenic | Missense variant | rs373771053 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) | Single nucleotide variant | Chr11:108139040 | Pathogenic/Likely pathogenic | Missense variant | rs541517496 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) | Single nucleotide variant | Chr11:108147305 | Uncertain significance | Missense variant | rs761086326 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution