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NM_002857.4:c.320del
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NM_002857.4:c.320del
HGVS Expressions
NG_008637.1:g.7182del
NM_002857.4:c.320del
NP_002848.1:p.Lys107SerfsTer13
NC_000001.11:g.160282973del
Associated Genes
Peroxisome Biogenesis Factor 19
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1571138735
Clinvar
30062
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614886.1.1
Saudi Arabia
2
Pathogenic
Peroxisome Biogenesis Disorder 12A (Zellweger)
Mohamed et al. 2010
Patient died at 16 months of age due to ...
614886.1.2
Saudi Arabia
1
Mohamed et al. 2010
Father of 614886.1.1
614886.1.3
Saudi Arabia
1
Mohamed et al. 2010
Mother of 614886.1.1
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Contributors
Sayeeda Hana: 31.03.2023
Edit History
Sayeeda Hana: 31.03.2023
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