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NM_032551.4:c.1195T>C
Home
NM_032551.4:c.1195T>C
HGVS Expressions
NG_008277.1:g.8405T>C
NM_032551.4:c.1195T>C
NP_115940.2:p.Ter399ArgextTer?
NC_000019.10:g.920746T>C
Associated Genes
KISS1 Receptor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104894702
Clinvar
5757
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
614837.1.1
Tunisia
2
Pathogenic
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Moalla et al. 2019
Proband. Parents are first cousins.
614837.1.2
Tunisia
2
Pathogenic
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Moalla et al. 2019
Sibling of proband. Non-identical twin t...
614837.1.3
Tunisia
2
Pathogenic
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Moalla et al. 2019
Sibling of proband. Non-identical twin t...
614837.1.G
Tunisia
4
Moalla et al. 2019
2 healthy siblings and healthy parents. ...
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Contributors
Sami Bizzari: 13.09.2021
Edit History
Sami Bizzari: 13.09.2021
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Algeria
Bahrain
Comoros
Country not specified
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Arab Countries with reported incidence
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