NM_006086.4:c.136C>T

HGVS Expressions

  • NG_027810.1:g.15641C>T
  • NM_006086.4:c.136C>T
  • NP_006077.2:p.Arg46Trp
  • NC_000016.10:g.89932649C>T

Associated Genes

Tubulin, Beta-3
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

438582

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614039.1Jordan1Likely PathogenicCortical Dysplasia, Complex, with other Brain Malformations 1Froukh. 2017 de novo mutation
© CAGS 2024. All rights reserved.