NM_032504.1:c.7697A>C

HGVS Expressions

  • NG_051361.1:g.200602A>C
  • NM_032504.1:c.7697A>C
  • NP_115893.1:p.Glu2566Ala
Back to search Result
Genomic Location

chr2:209967526

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616801.1Lebanon2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Nair et al. 2018
© CAGS 2024. All rights reserved.