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NM_024531.4:c.419C>T
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NM_024531.4:c.419C>T
HGVS Expressions
NG_032872.1:g.6355C>T
NM_024531.4:c.419C>T
NP_078807.1:p.Pro140Leu
NC_000008.11:g.144359911C>T
Associated Genes
Solute Carrier Family 52 (Riboflavin Transporter), Member 2
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614707.2.1
Lebanon
2
Likely Pathogenic
Brown-Vialetto-Van Laere Syndrome 2
Srour et al, 2014
614707.2.2
Lebanon
2
Likely Pathogenic
Brown-Vialetto-Van Laere Syndrome 2
Srour et al, 2014
Bother of 614707.2.1
614707.2.3
Lebanon
2
Likely Pathogenic
Brown-Vialetto-Van Laere Syndrome 2
Srour et al, 2014
First cousin of 614707.2.1
614707.2.4
Lebanon
2
Likely Pathogenic
Brown-Vialetto-Van Laere Syndrome 2
Srour et al, 2014
First cousin of 614707.2.1
614707.2.5
Lebanon
2
Likely Pathogenic
Brown-Vialetto-Van Laere Syndrome 2
Srour et al, 2014
First cousin of 614707.2.1
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Contributors
Pratibha Nair: 23.10.2018
Edit History
Sami Bizzari: 21.11.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 24.01.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
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Somalia
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Yemen
Arab Countries with reported incidence
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