NM_025193.4:c.45_46del

HGVS Expressions

  • NG_012346.1:g.5506_5507del
  • NM_025193.4:c.45_46del
  • NP_079469.2:p.Gly17LeufsTer26
  • NC_000016.10:g.30985703_30985704del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

2885

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607765.1United Arab Emirates2PathogenicBile Acid Synthesis Defect, Congenital, 1Al-Shamsi et al. 2016
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