NM_001701.4:c.1156G>A

HGVS Expressions

  • NG_009774.1:g.27477G>A
  • NM_001701.4:c.1156G>A
  • NP_001692.1:p.Gly386Arg
  • NC_000009.12:g.101362529C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1048532

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619232.1.1Saudi Arabia2NAPathogenicBile Acid Conjugation Defect 1Setchell et al. 2013 Patient from 'family 2' in the publicati...
619232.1.2Saudi Arabia2NAPathogenicBile Acid Conjugation Defect 1Setchell et al. 2013 Sister of 619232.1.1
619232.1.3Saudi Arabia1NASetchell et al. 2013 Father of 619232.1.1
619232.1.4Saudi Arabia1NASetchell et al. 2013 Mother of 619232.1.1
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