NM_017653.6:c.610C>T

  1. Home
  2. NM_017653.6:c.610C>T

HGVS Expressions

  • NG_009239.2:g.131996C>T
  • NM_017653.6:c.610C>T
  • NP_060123.3:p.Arg204Ter
  • NC_000018.10:g.49333738G>A

Associated Genes

Dymeclin
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

752868357

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.7Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223800.8.1Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223800.8.2Egypt2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018 Relative of 223800.8.1
Download Table

Contributors

  • Asha Deepthi: 15.11.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 15.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.