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NM_000159.4:c.848T>C
Home
NM_000159.4:c.848T>C
HGVS Expressions
NG_009292.1:g.10258T>C
NM_000159.4:c.848T>C
NP_000150.1:p.Leu283Pro
NC_000019.10:g.12896417T>C
Associated Genes
Glutaryl-CoA Dehydrogenase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
Clinvar
955419
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231670.5.1
Palestine
2
Pathogenic
Glutaric Acidemia I
Anikster et al. 1996
The patient had an older brother who pre...
231670.5.2
Palestine
1
Anikster et al. 1996
Sister of 231670.5.1
231670.5.3
Palestine
1
Anikster et al. 1996
Sister of 231670.5.1
231670.5.4
Palestine
1
Anikster et al. 1996
Brother of 231670.5.1
231670.5.5
Palestine
1
Anikster et al. 1996
Father of 231670.5.1
231670.5.6
Palestine
1
Anikster et al. 1996
Mother of 231670.5.1
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Contributors
Sayeeda Hana: 18.08.2020
Edit History
Pratibha Nair: 09.11.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 19.08.2020
Sayeeda Hana: 18.08.2020
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Arab Countries with reported incidence
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