NM_001128431.4:c.751-9C>G

  1. Home
  2. NM_001128431.4:c.751-9C>G

HGVS Expressions

  • NG_054890.1:g.53512C>G
  • NM_001128431.4:c.751-9C>G
  • NP_001121903.1:p.?
  • NC_000008.11:g.22415760C>G

Associated Genes

Solute Carrier Family 39 (Zinc Transporter), Member 14
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1039778197

Clinvar

446707

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617013.1.1United Arab Emirates2Likely PathogenicHypermanganesemia With Dystonia 2Rodan et al. 2018 'Patient 1' in the publication
617013.2United Arab Emirates2Likely PathogenicHypermanganesemia With Dystonia 2Rodan et al. 2018 'Patient 2' in the publication
617013.1.GUnited Arab Emirates4Rodan et al. 2018 Relatives of 617013.1.1 (parents + 2 sib...
Download Table

Contributors

  • Asha Deepthi: 04.05.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Asha Deepthi: 04.05.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.