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NM_000329.3:c.643+1G>C
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NM_000329.3:c.643+1G>C
HGVS Expressions
NG_008472.2:g.14108G>C
NM_000329.3:c.643+1G>C
Associated Genes
Retinal Pigment Epithelium-Specific Protein, 65-kD
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Genomic Location
chr1:68440852
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
61752889
Clinvar
98881
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
204100.1.1
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 2
Patel et al, 2018
204100.11.1
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Li et al. 2009
204100.11.2
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Li et al. 2009
Relative of 204100.11.1
204100.11.3
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Li et al. 2009
Relative of 204100.11.1
204100.11.4
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Li et al. 2009
Relative of 204100.11.1
204100.11.5
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Li et al. 2009
Relative of 204100.11.1
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Contributors
Sayeeda Hana: 30.06.2020
Edit History
Sayeeda Hana: 25.10.2024
Sayeeda Hana: 30.06.2020
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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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