NM_001010867.3:c.316A>G

  1. Home
  2. NM_001010867.3:c.316A>G

HGVS Expressions

  • NG_042231.1:g.5325A>G
  • NM_001010867.3:c.316A>G
  • NP_001010867.1:p.Thr106Ala
  • NC_000001.11:g.228166132A>G

Associated Genes

Iron-Sulfur Cluster Assembly Factor IBA57
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1053773776

Clinvar

545650

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615330.1United Arab Emirates2PathogenicMultiple Mitochondrial Dysfunctions Syndrome 3Saleh et al. 2021 Affected sibling
Download Table

Contributors

  • Pratibha Nair: 05.10.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 05.10.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.