NM_005219.5:c.3145C>T

  1. Home
  2. NM_005219.5:c.3145C>T

HGVS Expressions

  • NG_011594.2:g.95600C>T
  • NM_005219.5:c.3145C>T
  • NP_005210.3:p.Arg1049Ter
  • NC_000005.10:g.141528456G>A

Associated Genes

Diaphanous-Related Formin 1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

863225243

Clinvar

217754

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616632.2United Arab Emirates2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeAl-Maawali et al. 2016
Download Table

Contributors

  • Sayeeda Hana: 27.10.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Sayeeda Hana: 03.11.2021
  • Sayeeda Hana: 27.10.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.