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NM_001206744.2:c.1994G>A
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NM_001206744.2:c.1994G>A
HGVS Expressions
NG_011581.1:g.85565G>A
NM_001206744.2:c.1994G>A
NP_001193673.1:p.Arg665Gln
NC_000002.12:g.1494027G>A
Associated Genes
Thyroid Peroxidase
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
140124953
Clinvar
374344
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
274500.1
United Arab Emirates
2
Pathogenic
Thyroid Dyshormonogenesis 2A
Nicholas et al. 2016
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Contributors
Sayeeda Hana: 12.09.2021
Edit History
Pratibha Nair: 12.01.2023
Sayeeda Hana: 13.09.2021
Sayeeda Hana: 12.09.2021
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