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NM_000112.3:c.1361A>C
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NM_000112.3:c.1361A>C
HGVS Expressions
NG_007147.2:g.22072A>C
NM_000112.3:c.1361A>C
NP_000103.2:p.Gln454Pro
Associated Genes
Solute Carrier Family 26 (Sulfate Transporter), Member 2
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Genomic Location
chr5:149980954
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104893921
Clinvar
4096
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
222600.1.1
Lebanon
2
Pathogenic
Diastrophic Dysplasia
Mégarbané et al., 1999;
Mégarbané et al. 2002e
Similarly affected sister
222600.1.2
Lebanon
1
Pathogenic
Mégarbané et al., 1999
Mother of 222600.1.1
222600.1.3
Lebanon
1
Pathogenic
Mégarbané et al., 1999
Fatther of 222600.1.1
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Contributors
Pratibha Nair: 27.02.2019
Edit History
Pratibha Nair: 27.02.2019
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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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