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NM_000326.5:c.773T>G
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NM_000326.5:c.773T>G
HGVS Expressions
NG_008116.1:g.15971T>G
NM_000326.5:c.773T>G
NP_000317.1:p.Leu258Trp
NC_000015.10:g.89210721A>C
Associated Genes
Retinaldehyde-Binding Protein 1
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
786205494
Clinvar
191063
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
136880.2
Saudi Arabia
2
Likely Pathogenic
Fundus Albipunctatus
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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