NM_016464.5:c.380C>T

HGVS Expressions

  • NG_032581.1:g.11600C>T
  • NM_016464.5:c.380C>T
  • NP_057548.1:p.Ala127Val
  • NC_000011.10:g.61368600C>T
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

31189

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614465.3.1United Arab Emirates2PathogenicJoubert Syndrome 16Ben-Salem et al. 2014; Lee et al. 2012
614465.3.2United Arab Emirates2PathogenicJoubert Syndrome 16Ben-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.3.1
614465.3.3United Arab Emirates2PathogenicJoubert Syndrome 16Ben-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.3.1
© CAGS 2024. All rights reserved.