HGVS Expressions

  • NG_016465.4:g.126993T>C
  • NM_000492.4:c.1622T>C
  • NP_000483.3:p.Leu541Pro
  • NC_000007.14:g.117587776T>C
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
277180.2Kuwait2NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofLissens et al. 1999
© CAGS 2024. All rights reserved.