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NM_001370658.1:c.1535C>T
Home
NM_001370658.1:c.1535C>T
HGVS Expressions
NG_008019.2:g.49100C>T
NM_001370658.1:c.1535C>T
NP_001357587.1:p.Thr512Met
NC_000003.12:g.15645451C>T
Associated Genes
Biotinidase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
104893688
Clinvar
1897
Epidemiology in the Arab World
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All Countries
Morocco
Syria
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
253260.8
United Arab Emirates
1
Likely Pathogenic
Biotinidase Deficiency
Varghese et al. 2021
253260.G.3
United Arab Emirates
NA
NA
Likely Pathogenic
Biotinidase Deficiency
Al-Jasmi at al. 2016
Compound heterozygous mutation identifie...
253260.G.11
Syria
NA
NA
Likely Pathogenic
Biotinidase Deficiency
Al-Jasmi at al. 2016
UAE resident(s) of Syrian origin. Number...
253260.G.12
Morocco
NA
NA
Likely Pathogenic
Biotinidase Deficiency
Al-Jasmi at al. 2016
UAE resident(s) of Moroccan origin. Numb...
253260.G.13
Yemen
NA
NA
Likely Pathogenic
Biotinidase Deficiency
Al-Jasmi at al. 2016
UAE resident(s) of Yemeni origin. Number...
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Contributors
Asha Deepthi: 04.07.2021
Edit History
Pratibha Nair: 10.01.2023
Pratibha Nair: 28.11.2022
Pratibha Nair: 21.09.2022
Asha Deepthi: 04.07.2021
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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