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NM_000342.4:c.2573C>A
Home
NM_000342.4:c.2573C>A
HGVS Expressions
NG_007498.1:g.21894C>A
NM_000342.4:c.2573C>A
NP_000333.1:p.Ala858Asp
Associated Genes
Solute Carrier Family 4 (Anion Exchanger), Member 1
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Genomic Location
chr17:44251241
Clinvar Clinical Significance
Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121912751
Clinvar
17771
Epidemiology in the Arab World
View Map
Oman
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
611590.1.1
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
611590.1.2
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
Sister of 611590.1.1
611590.2
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
611590.3
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
611590.4.1
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
611590.4.2
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
Sister of 611590.4.1
611590.5
Oman
2
Pathogenic
Renal Tubular Acidosis, Distal, with Hemolytic Anemia
Fawaz et al. 2012
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Contributors
Sayeeda Hana: 19.11.2020
Edit History
Sayeeda Hana: 22.11.2020
Sayeeda Hana: 19.11.2020
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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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