NM_181783.4:c.211C>T

HGVS Expressions

  • NG_021187.1:g.16017C>T
  • NM_181783.4:c.211C>T
  • NP_861448.2:p.Arg71Cys
Back to search Result
Genomic Location

chr12:88153312

Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
617218.1.1Lebanon2Likely PathogenicTMTC3-Related SyndromeHana et al. 2020
617218.1.2Lebanon2Likely PathogenicTMTC3-Related SyndromeHana et al. 2020 Sibling of 617218.1.1
617218.1.3Lebanon1Hana et al. 2020 Mother of 617218.1.1
617218.1.4Lebanon1Hana et al. 2020 Father of 617218.1.1
© CAGS 2021. All rights reserved.