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NM_000019.4:c.86_87dup
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NM_000019.4:c.86_87dup
HGVS Expressions
NG_009888.2:g.20216_20217dup
NM_000019.4:c.86_87dup
NP_000010.1:p.Glu30TrpfsTer11
NC_000011.10:g.108131920_108131921dup
Associated Genes
Acetyl-CoA Acetyltransferase 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Microsatellite
dbSNP
1591360348
Clinvar
666464
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
203750.2
United Arab Emirates
2
Likely Pathogenic
Alpha-Methylacetoacetic Aciduria
Al-Jasmi at al. 2016
203750.G.1
United Arab Emirates
Likely Pathogenic
Alpha-Methylacetoacetic Aciduria
Al-Shamsi et al. 2014
2 mutations detected in 3 patients detec...
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Contributors
Pratibha Nair: 15.10.2018
Edit History
Sami Bizzari: 06.02.2023
Pratibha Nair: 02.01.2023
Pratibha Nair: 08.11.2022
Asha Deepthi: 23.06.2021
Pratibha Nair: 14.01.2019
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