NM_006343.3:c.2214del

  1. Home
  2. NM_006343.3:c.2214del

HGVS Expressions

  • NG_011607.1:g.127833del
  • NM_006343.3:c.2214del
  • NP_006334.2:p.Cys738TrpfsTer32
  • NC_000002.12:g.112021446del

Associated Genes

MER Tyrosine Kinase Protooncogene
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

886039422

Clinvar

265244

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.G.3United Arab Emirates8NALikely PathogenicRetinitis Pigmentosa 38Khan. 2020 Group of 4 patients
613862.G.4United Arab EmiratesNANAPathogenicRetinitis Pigmentosa 38Méjécase et al. 2020 Patient(s) from 'family 11' in the publi...
613862.G.5United Arab EmiratesNANAPathogenicRetinitis Pigmentosa 38Méjécase et al. 2020 Patient(s) from 'family 12' in the publi...
Download Table

Contributors

  • Asha Deepthi: 27.05.2021

Edit History

  • Asha Deepthi: 21.07.2022
  • Asha Deepthi: 27.05.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.