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NM_000044.4:c.2567G>A
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NM_000044.4:c.2567G>A
HGVS Expressions
NG_009014.2:g.183913G>A
NM_000044.4:c.2567G>A
NP_000035.2:p.Arg856His
NC_000023.11:g.67722944G>A
Associated Genes
Androgen Receptor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
9332971
Clinvar
9823
Epidemiology in the Arab World
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Kuwait
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
300068.5.1
Kuwait
1
Pathogenic
Androgen Insensitivity Syndrome
Batch et al. 1993
Sibling of 300068.5.2
300068.5.2
Kuwait
1
Pathogenic
Androgen Insensitivity Syndrome
Batch et al. 1993
Sibling of 300068.5.1
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Contributors
Pratibha Nair: 26.06.2018
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 31.12.2018
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