NM_016464.5:c.376G>A

HGVS Expressions

  • NG_032581.1:g.10998G>A
  • NM_016464.5:c.376G>A
  • NP_057548.1:p.Ala126Thr
Back to search Result
Genomic Location

chr11:61367998

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

31190

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614465.4Egypt2PathogenicJoubert Syndrome 16Lee et al. 2012
614465.6Egypt2PathogenicJoubert Syndrome 16Lee et al. 2012
© CAGS 2024. All rights reserved.