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NM_000159.4:c.301G>A
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NM_000159.4:c.301G>A
HGVS Expressions
NG_009292.1:g.5986G>A
NM_000159.4:c.301G>A
NP_000150.1:p.Gly101Arg
Associated Genes
Glutaryl-CoA Dehydrogenase
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Genomic Location
chr19:12892145
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1273164833
Clinvar
550735
Epidemiology in the Arab World
View Map
Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231670.6.1
Iraq
2
Pathogenic
Glutaric Acidemia I
Anikster et al. 1996
Patient belongs to a family of Iraqi-Jew...
231670.6.2
Iraq
2
Pathogenic
Glutaric Acidemia I
Anikster et al. 1996
Brother of 231670.6.1
231670.6.3
Iraq
1
Anikster et al. 1996
Father of 231670.6.1
231670.6.4
Iraq
1
Anikster et al. 1996
Mother of 231670.6.1
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Contributors
Sayeeda Hana: 18.08.2020
Edit History
Sayeeda Hana: 19.08.2020
Sayeeda Hana: 18.08.2020
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Algeria
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