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NM_000492.3:c.443T>C
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NM_000492.3:c.443T>C
HGVS Expressions
NG_016465.4:g.70285T>C
NM_000492.3:c.443T>C
NP_000483.3:p.Ile148Thr
NC_000007.14:g.117531068T>C
Associated Genes
Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance
Benign, Likely Benign, Uncertain Significance
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
35516286
Clinvar
38850
Epidemiology in the Arab World
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Tunisia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
219700.48
Tunisia
1
NA
Uncertain Significance
Cystic Fibrosis
Messaoud et al. 2005
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Contributors
Edit History
Asha Deepthi: 21.03.2021
Asha Deepthi: 17.03.2021
Asha Deepthi: 05.11.2020
Asha Deepthi: 30.04.2020
Asha Deepthi: 28.04.2020
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