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NM_000372.4:c.1207del
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NM_000372.4:c.1207del
HGVS Expressions
NG_008748.1:g.111924del
NM_000372.4:c.1207del
NP_000363.1:p.Arg403GlyfsTer82
NC_000011.10:g.89284795del
Associated Genes
Tyrosinase
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
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
203100.G.1
Lebanon
Likely Pathogenic
Oculocutaneous Albinism, Type IA;
Albinism, Oculocutaneous, Type 1B
Zahed et al. 2005
Group of 14 patients with both homozygou...
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Contributors
Sayeeda Hana: 06.02.2020
Edit History
Rahila Mir: 10.02.2022
Pratibha Nair: 09.06.2021
Sayeeda Hana: 09.02.2020
Sayeeda Hana: 06.02.2020
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