NM_003742.4:c.1897A>C

HGVS Expressions

  • NG_007374.2:g.66933A>C
  • NM_003742.4:c.1897A>C
  • NP_003733.2:p.Thr633Pro
  • NC_000002.12:g.168969464T>G
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601847.1United Arab Emirates2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 2Al-Shamsi et al. 2014
© CAGS 2024. All rights reserved.