NM_000135.4:c.3518G>A

  1. Home
  2. NM_000135.4:c.3518G>A

HGVS Expressions

  • NG_011706.1:g.76591G>A
  • NM_000135.4:c.3518G>A
  • NP_000126.2:p.Trp1173Ter

Associated Genes

FANCA Gene
Back to search Result
Genomic Location

chr16:89745067

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1318931629

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.9Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
Download Table

Contributors

  • Pratibha Nair: 22.09.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 22.09.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.