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NM_000112.4:c.1721T>C
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NM_000112.4:c.1721T>C
HGVS Expressions
NG_007147.2:g.22432T>C
NM_000112.4:c.1721T>C
NP_000103.2:p.Ile574Thr
NC_000005.10:g.149981314T>C
Associated Genes
Solute Carrier Family 26 (Sulfate Transporter), Member 2
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Clinvar Clinical Significance
Benign
CTGA Clinical Significance
Likely Benign
Variant Type
Substitution
dbSNP
30832
Clinvar
196209
Epidemiology in the Arab World
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Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614035.3.1
Yemen
2
Likely Benign
Mohamed et al. 2019
Proband from "family YMN II" in the publ...
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Contributors
Asha Deepthi: 04.02.2025
Edit History
Asha Deepthi: 04.02.2025
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Yemen
Arab Countries with reported incidence
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