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NM_001199835.1:c.46C>T
Home
NM_001199835.1:c.46C>T
HGVS Expressions
NG_033902.1:g.74102C>T
NM_001199835.1:c.46C>T
NP_001186764.1:p.Arg16Ter
Associated Genes
Sorting Nexin 10
Back to search Result
Genomic Location
Chr7:26360996
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587777490
Clinvar
139565
Epidemiology in the Arab World
View Map
Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615085.1.1
Iraq
2
NA
Pathogenic
Osteopetrosis, Autosomal Recessive 8
Mégarbané A et al. 2013 Jan
Proband. Cousin with similar features in...
615085.1.2
Iraq
1
NA
Mégarbané A et al. 2013 Jan
Father of 615085.1.1
615085.1.3
Iraq
1
NA
Mégarbané A et al. 2013 Jan
Mother of 615085.1.1
615085.1.4
Iraq
1
NA
Mégarbané A et al. 2013 Jan
Sister of 615085.1.1
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Contributors
Asha Deepthi: 29.04.2019
Edit History
Asha Deepthi: 29.04.2019
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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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