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NM_201253.2:c.2234C>T
Home
NM_201253.2:c.2234C>T
HGVS Expressions
NG_008483.2:g.231098C>T
NM_201253.2:c.2234C>T
NP_957705.1:p.Thr745Met
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Genomic Location
chr1:197427559
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
28939720
Clinvar
5733
Epidemiology in the Arab World
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All Countries
Lebanon
Palestine
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600105.1.4
Lebanon
1
Pathogenic
Retinitis Pigmentosa 12
Jalkh et al, 2014
Paternal uncle of 600105.1.1
600105.2.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 12
Monies et al. 2017
Patient was found to have a dual diagnos...
613835.1.1
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Father of 600105.1.1
613835.1.2
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Paternal aunt of 600105.1.1
613835.1.3
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Paternal uncle of 600105.1.1
613835.1.4
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Paternal uncle of 600105.1.1
600105.G.3
Palestine
Pathogenic
Retinitis Pigmentosa 12
Beryozkin et al. 2013
Group consisting of affected members fro...
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Contributors
Sayeeda Hana: 11.08.2019
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 14.08.2019
Sayeeda Hana: 11.08.2019
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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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