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NM_001127671.2:c.653dup
Home
NM_001127671.2:c.653dup
HGVS Expressions
NG_011817.1:g.88533dup
NM_001127671.2:c.653dup
NP_001121143.1:p.Glu219GlyfsTer3
NC_000005.10:g.38511873dup
Associated Genes
Leukemia Inhibitory Factor Receptor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
886042160
Clinvar
281444
Epidemiology in the Arab World
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All Countries
Oman
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601559.9
United Arab Emirates
2
Pathogenic
Stuve-Wiedemann Syndrome
Saleh et al. 2021
601559.G.1
United Arab Emirates
20
Pathogenic
Stuve-Wiedemann Syndrome
Begam et al. 2011
10 patients; 6 pre-natal diagnoses
601559.G.2
Oman; United Arab Emirate...
2
Pathogenic
Stuve-Wiedemann Syndrome
Al-Gazali et al. 1996;
Dagoneau et al. 2004;
Al-Gazali and Hamamy. 2014
50 patients from 28 Emirati families bel...
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Contributors
Pratibha Nair: 26.08.2020
Edit History
Pratibha Nair: 10.11.2022
Pratibha Nair: 23.08.2022
Pratibha Nair: 11.10.2021
Pratibha Nair: 26.08.2020
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Yemen
Arab Countries with reported incidence
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