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NM_000350.3:c.2294G>A
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NM_000350.3:c.2294G>A
HGVS Expressions
NG_009073.1:g.69461G>A
NM_000350.3:c.2294G>A
NP_000341.2:p.Ser765Asn
Associated Genes
ATP-Binding Cassette, Subfamily A, Member 4
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Genomic Location
chr1:94056689
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
61749429
Clinvar
99125
Epidemiology in the Arab World
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All Countries
Jordan
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
248200.G.1
Jordan
3
Pathogenic
Stargardt Disease 1
Patel et al, 2018
3 members of a family
248200.G.11
Saudi Arabia
4+
Likely Pathogenic
Stargardt Disease 1
Patel et al. 2016
Family with unknown number of affected m...
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Contributors
Sayeeda Hana: 06.07.2020
Edit History
Sayeeda Hana: 29.08.2024
Sami Bizzari: 09.01.2023
Sayeeda Hana: 06.07.2020
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Algeria
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Country not specified
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Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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