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NM_000350.3:c.2791G>A
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NM_000350.3:c.2791G>A
HGVS Expressions
NG_009073.1:g.79104G>A
NM_000350.3:c.2791G>A
NP_000341.2:p.Val931Met
Associated Genes
ATP-Binding Cassette, Subfamily A, Member 4
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Genomic Location
chr1:94047046
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
58331765
Clinvar
7880
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
248200.1
Saudi Arabia
2
Likely Pathogenic
Stargardt Disease 1
Allikmets et al. 1997
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Contributors
Sayeeda Hana: 18.07.2020
Edit History
Sayeeda Hana: 18.07.2020
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