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NM_001031709.3:c.215_216delinsT
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NM_001031709.3:c.215_216delinsT
HGVS Expressions
NM_001031709.3:c.215_216delinsT
NP_001026879.2:p.Lys72IlefsTer10
NC_000010.11:g.88582210_88582211delinsA
Associated Genes
Renalase
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Indel
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
609360.1.1
Saudi Arabia
2
Likely Pathogenic
RNLS Associated Cataract
Aldahmesh et al. 2012;
Patel et al. 2017
Patient had undergone "bilateral lens as...
609360.1.2
Saudi Arabia
2
Likely Pathogenic
RNLS Associated Cataract
Aldahmesh et al. 2012;
Patel et al. 2017
Brother of 609360.1.1. Patient had under...
609360.1.3
Saudi Arabia
2
Likely Pathogenic
RNLS Associated Cataract
Aldahmesh et al. 2012;
Patel et al. 2017
Brother of 609360.1.1. Patient had under...
609360.1.G.1
Saudi Arabia
5
Aldahmesh et al. 2012
Father, mother, 2 sisters and a brother ...
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Contributors
Sayeeda Hana: 27.02.2023
Edit History
Sayeeda Hana: 27.03.2023
Sayeeda Hana: 27.02.2023
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