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NM_004813.4:c.460+5G>A
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NM_004813.4:c.460+5G>A
HGVS Expressions
NG_008460.1:g.7661G>A
NM_004813.4:c.460+5G>A
NP_004804.2:p.?
NC_000011.10:g.45915463C>T
Associated Genes
Peroxisome Biogenesis Factor 16
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Clinvar Clinical Significance
Likely Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Clinvar
1339506
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
614876.2.1
United Arab Emirates
2
NA
Likely Pathogenic
Peroxisome Biogenesis Disorder 8A (Zellweger)
Salpietro et al. 2015
'Patient 1' in the publication
614876.2.2
United Arab Emirates
1
NA
Salpietro et al. 2015
Father of 614876.2.1
614876.2.3
United Arab Emirates
1
NA
Salpietro et al. 2015
Mother of 614876.2.1
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Contributors
Asha Deepthi: 15.08.2022
Edit History
Pratibha Nair: 29.11.2022
Asha Deepthi: 15.08.2022
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