NM_000135.4:c.688G>A

  1. Home
  2. NM_000135.4:c.688G>A

HGVS Expressions

  • NG_011706.1:g.16357G>A
  • NM_000135.4:c.688G>A
  • NP_000126.2:p.Val230Ile

Associated Genes

FANCA Gene
Back to search Result
Genomic Location

chr16:89805301

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

144560850

Clinvar

321366

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.6Lebanon2Likely BenignFanconi Anemia, Complementation Group AFarah et al. 2020
Download Table

Contributors

  • Pratibha Nair: 22.09.2020

Edit History

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