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NM_016648.4:c.1024_1030dup
Home
NM_016648.4:c.1024_1030dup
HGVS Expressions
NG_032779.1:g.15753_15759dup
NM_016648.4:c.1024_1030dup
NP_057732.2:p.Thr344LysfsTer9
NC_000004.12:g.112647716_112647722dup
Associated Genes
La Ribonucleoprotein 7, Transcriptional Regulator
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
1057519017
Clinvar
39615
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615071.2.1
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
615071.2.2
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Sibling of 615071.2.1
615071.2.3
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Relative of 615071.2.1
615071.2.4
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Sibling of 615071.2.3
615071.2.5
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Sibling of 615071.2.3
615071.2.6
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Relative of 615071.2.1
615071.2.7
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Sibling of 615071.2.6
615071.2.8
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Sibling of 615071.2.6
615071.2.9
Saudi Arabia
2
Pathogenic
Alazami Syndrome
Alazami et al. 2012
Sibling of 615071.2.6
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Contributors
Pratibha Nair: 19.09.2022
Edit History
Pratibha Nair: 19.09.2022
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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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