HGVS Expressions

  • NG_008098.1:g.34193G>A
  • NM_003839.4:c.400G>A
  • NP_003830.1:p.Ala134Thr
  • NC_000018.10:g.62354507G>A
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612301.1United Arab Emirates2Likely PathogenicOsteopetrosis, Autosomal Recessive 7Alabdullatif et al. 2017
© CAGS 2022. All rights reserved.