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NM_000208.4:c.421C>T
Home
NM_000208.4:c.421C>T
HGVS Expressions
NG_008852.2:g.31425C>T
NM_000208.4:c.421C>T
NP_000199.2:p.Arg141Trp
NC_000019.10:g.7267576G>A
Associated Genes
Insulin Receptor
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
1555689823
Clinvar
439835
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
262190.1.1
United Arab Emirates
2
Likely Pathogenic
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities
Bastaki et al. 2016
262190.1.2
United Arab Emirates
1
Pathogenic
Bastaki et al. 2016
Father of 262190.1.1
262190.1.3
United Arab Emirates
1
Pathogenic
Bastaki et al. 2016
Mother of 262190.1.1
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Contributors
Pratibha Nair: 14.09.2020
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 23.08.2022
Pratibha Nair: 14.09.2020
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