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NM_000441.2:c.1001G>T
Home
NM_000441.2:c.1001G>T
HGVS Expressions
NG_008489.1:g.27903G>T
NM_000441.2:c.1001G>T
NP_000432.1:p.Gly334Val
Associated Genes
Solute Carrier Family 26, Member 4
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Genomic Location
chr7:107683537
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
146281367
Clinvar
189039
Epidemiology in the Arab World
View Map
Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
274600.2.1
Palestine
2
Pathogenic
Pendred Syndrome
Walsh et al. 2006
274600.2.2
Palestine
2
Pathogenic
Pendred Syndrome
Walsh et al. 2006
Sister of 274600.2.1
274600.2.3
Palestine
2
Pathogenic
Pendred Syndrome
Walsh et al. 2006
First cousin of 274600.2.1
274600.2.4
Palestine
2
Pathogenic
Pendred Syndrome
Walsh et al. 2006
First cousin of 274600.2.1
274600.2.5
Palestine
1
Walsh et al. 2006
Father of 274600.2.1
274600.2.6
Palestine
1
Walsh et al. 2006
Mother of 274600.2.1
274600.2.7
Palestine
1
Walsh et al. 2006
Paternal aunt of 274600.2.1, Mother of 2...
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Contributors
Sayeeda Hana: 11.08.2020
Edit History
Sayeeda Hana: 11.08.2020
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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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