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

Clinvar

5757

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614837.1.1Tunisia2PathogenicHypogonadotropic Hypogonadism 8 With Or Without AnosmiaMoalla et al. 2019 Proband. Parents are first cousins.
614837.1.2 Tunisia2PathogenicHypogonadotropic Hypogonadism 8 With Or Without AnosmiaMoalla et al. 2019 Sibling of proband. Non-identical twin t...
614837.1.3Tunisia2PathogenicHypogonadotropic Hypogonadism 8 With Or Without AnosmiaMoalla et al. 2019 Sibling of proband. Non-identical twin t...
614837.1.GTunisia4Moalla et al. 2019 2 healthy siblings and healthy parents. ...
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