NM_015409.5:c.323C>T

  1. Home
  2. NM_015409.5:c.323C>T

HGVS Expressions

  • NM_015409.5:c.323C>T
  • NP_056224.3:p.Ala108Val
  • NC_000012.12:g.131960942C>T

Associated Genes

E1A-Binding Protein, 400-KD
Back to search Result
CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

762116055

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
244400.3.4United Arab Emirates2NALikely BenignAlsamri et al. 2021 'Patient 2' in the publication (cousin o...
244400.3.5United Arab Emirates1NAAlsamri et al. 2021 Father of 244400.3.4
244400.3.6United Arab Emirates1NAAlsamri et al. 2021 Mother of 244400.3.4
Download Table

Contributors

  • Asha Deepthi: 29.08.2022

Edit History

  • Pratibha Nair: 20.02.2023
  • Asha Deepthi: 29.08.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.