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NM_000350.3:c.607_611del
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NM_000350.3:c.607_611del
HGVS Expressions
NG_009073.1:g.27195_27199del
NM_000350.3:c.607_611del
NP_000341.2:p.Ile203LeufsTer75
NC_000001.11:g.94098952_94098956del
Associated Genes
ATP-Binding Cassette, Subfamily A, Member 4
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
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
248200.6
United Arab Emirates
1
Likely Pathogenic
Stargardt Disease 1
Khan. 2020
Patient '18' in the publication
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Contributors
Asha Deepthi: 04.04.2021
Edit History
Sami Bizzari: 09.01.2023
Sayeeda Hana: 07.12.2022
Asha Deepthi: 05.04.2021
Asha Deepthi: 04.04.2021
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