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NM_178857.6:c.5959C>T
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NM_178857.6:c.5959C>T
HGVS Expressions
NG_028035.1:g.51969C>T
NM_178857.6:c.5959C>T
NP_849188.4:p.Gln1987Ter
NC_000008.11:g.10608139G>A
Associated Genes
RP1-Like Protein 1
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Clinvar Clinical Significance
Benign, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
200846354
Clinvar
425431
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
618826.G.1
Saudi Arabia
4+
Likely Pathogenic
Retinitis Pigmentosa 88
Patel et al. 2016
Family with unknown number of affected m...
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Contributors
Sayeeda Hana: 21.08.2024
Edit History
Sayeeda Hana: 21.08.2024
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
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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