NM_001172435.2:c.2011C>T

HGVS Expressions

  • NG_016972.1:g.103192C>T
  • NM_001172435.2:c.2011C>T
  • NP_001165906.1:p.Arg671Ter
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Genomic Location

chr2:135150456

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7059

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600118.1.1Lebanon2PathogenicWarburg Micro Syndrome 1Megarbane et al. 1999; Aligianis et al. 2005
600118.1.2Lebanon2PathogenicWarburg Micro Syndrome 1Megarbane et al. 1999; Aligianis et al. 2005 Cousin of 600118.1.1
600118.1.3Lebanon2PathogenicWarburg Micro Syndrome 1Megarbane et al. 1999; Aligianis et al. 2005 Cousin of 600118.1.1
600118.1.4Lebanon2PathogenicWarburg Micro Syndrome 1Megarbane et al. 1999; Aligianis et al. 2005 Cousin of 600118.1.1
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