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NM_000350.3:c.4852T>A
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NM_000350.3:c.4852T>A
HGVS Expressions
NG_009073.2:g.104742T>A
NM_000350.3:c.4852T>A
NP_000341.2:p.Trp1618Arg
NC_000001.11:g.94021406A>T
Associated Genes
ATP-Binding Cassette, Subfamily A, Member 4
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
786205446
Clinvar
190984
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
248200.13
Saudi Arabia
2
Likely Pathogenic
Stargardt Disease 1
Patel et al. 2016
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Contributors
Sayeeda Hana: 21.08.2024
Edit History
Sayeeda Hana: 21.08.2024
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