NM_000380.3:c.323G>A

  1. Home
  2. NM_000380.3:c.323G>A

HGVS Expressions

  • NG_011642.1:g.12810G>A
  • NM_000380.3:c.323G>A
  • NP_000371.1:p.Cys108Tyr
  • NC_000009.12:g.97689600C>T

Associated Genes

XPA, DNA Damage Recognition and Repair Factor
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

104894131

Clinvar

430367

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
278700.1United Arab Emirates2Likely PathogenicXeroderma Pigmentosum, Complementation Group ASaleh et al. 2021 Similarly affected sister
Download Table

Contributors

  • Pratibha Nair: 12.01.2022

Edit History

  • Pratibha Nair: 12.01.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.