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NM_014714.4:c.1541_1542delinsAA
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NM_014714.4:c.1541_1542delinsAA
HGVS Expressions
NG_032783.1:g.45591_45592delinsAA
NM_014714.4:c.1541_1542delinsAA
NP_055529.2:p.Leu514Gln
Associated Genes
Intraflagellar Transport 140, Chlamydomonas, Homolog of
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Genomic Location
chr16:1571517-1571518
Clinvar Clinical Significance
Likely Benign, Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
886043802
Clinvar
288071
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
617781.11
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
The patient had 3 sisters and a nephew t...
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Contributors
Sayeeda Hana: 21.07.2020
Edit History
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 21.07.2020
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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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