NM_005989.4:c.781C>T

HGVS Expressions

  • NG_023342.1:g.36075C>T
  • NM_005989.4:c.781C>T
  • NP_005980.1:p.Arg261Cys
  • NC_000007.14:g.138107506C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5378

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235555.1United Arab Emirates2PathogenicBile Acid Synthesis Defect, Congenital, 2Al-Shamsi et al. 2014
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