NM_000207.3(INS):c.-152C>G

HGVS Expressions

  • NG_007114.1:g.4893C>G
  • NM_000207.3(INS):c.-152C>G
  • NC_000011.10:g.2161302G>C

Associated Genes

Insulin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

431443

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222100.1.1United Arab Emirates2PathogenicType 1 Diabetes MellitusDeeb et al. 2016; Garin et al. 2010 Sister of 606176.5.1
222100.1.2United Arab Emirates2PathogenicType 1 Diabetes MellitusDeeb et al. 2016; Garin et al. 2010 Brother of 606176.5.1, Father of 606176....
601410.1.1United Arab Emirates2PathogenicDiabetes Mellitus, Transient Neonatal, 1Deeb et al. 2016 Other siblings affected with permanent n...
601410.2.1Arab2PathogenicDiabetes Mellitus, Transient Neonatal, 1Garin et al. 2010 First cousin of 606176.6.1. Diagnosed at...
606176.1.1United Arab Emirates2PathogenicDiabetes Mellitus, Permanent Neonatal, 1Deeb et al. 2016 Sibling of 601410.1.1
606176.1.2United Arab Emirates2PathogenicDiabetes Mellitus, Permanent Neonatal, 1Deeb et al. 2016 Sibling of 601410.1.1. The patient had a...
606176.5.1United Arab Emirates2PathogenicDiabetes Mellitus, Permanent Neonatal, 1Deeb et al. 2016; Garin et al. 2010 The patient also had two siblings with a...
606176.5.2United Arab Emirates2PathogenicDiabetes Mellitus, Permanent Neonatal, 1Deeb et al. 2016; Garin et al. 2010 Brother of 606176.5.1
606176.5.3United Arab Emirates2PathogenicDiabetes Mellitus, Permanent Neonatal, 1Deeb et al. 2016; Garin et al. 2010 Nephew of 606176.5.1, Son of 222100.1.2
606176.6.1Arab2PathogenicDiabetes Mellitus, Permanent Neonatal, 1Garin et al. 2010
606176.6.G.1Arab4Garin et al. 2010 Parents of 606176.6.1 as well as the par...
606176.G.1United Arab Emirates6PathogenicDiabetes Mellitus, Permanent Neonatal, 1Al-Shamsi et al. 2014 3 unrelated Emirati patients
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