NM_001324036.2:c.139T>C

HGVS Expressions

  • NG_011557.2:g.12084T>C
  • NM_001324036.2:c.139T>C
  • NP_001310965.1:p.Ser47Pro
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Genomic Location

chr10:125816185

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

65600

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263700.1Lebanon2PathogenicPorphyria, Congenital ErythropoieticMaakaron et al. 2012 Family history of beta-thalassemia
300604.1.1Lebanon2PathogenicPremature Ovarian Failure 2BLacombe et al. 2006 Multiply consanguineous family, with mul...
300604.1.2Lebanon2PathogenicPremature Ovarian Failure 2BLacombe et al. 2006 Sister of 300604.1.1
300604.1.3Lebanon2PathogenicPremature Ovarian Failure 2BLacombe et al. 2006 Sister of 300604.1.1
300604.1.4Lebanon2PathogenicPremature Ovarian Failure 2BLacombe et al. 2006 Sister of 300604.1.1
300604.1.5Lebanon2PathogenicPremature Ovarian Failure 2BLacombe et al. 2006 Sister of 300604.1.1
300604.1.6Lebanon1PathogenicLacombe et al. 2006 Sister of 300604.1.1
300604.1.7Lebanon1PathogenicLacombe et al. 2006 Mother of 300604.1.1
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