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NM_001370658.1:c.500del
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NM_001370658.1:c.500del
HGVS Expressions
NG_008019.2:g.48065del
NM_001370658.1:c.500del
NP_001357587.1:p.Pro167fs
NC_000003.12:g.15644416del
Associated Genes
Biotinidase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
1325381
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
253260.9
United Arab Emirates
2
Pathogenic
Biotinidase Deficiency
Saleh et al. 2021;
Elsayed O and Al-Shamsi A. 2022
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Contributors
Pratibha Nair: 03.10.2021
Edit History
Pratibha Nair: 03.01.2023
Pratibha Nair: 22.12.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 03.10.2021
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