NM_006343.3:c.2214del

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  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
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

886039422

Clinvar

265244

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.6Saudi Arabia2PathogenicRetinitis Pigmentosa 38Patel et al. 2016
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...
613862.G.6Saudi Arabia4+PathogenicRetinitis Pigmentosa 38Patel et al. 2016 Family with unknown number of affected m...
613862.G.7Saudi Arabia4+PathogenicRetinitis Pigmentosa 38Patel et al. 2016 Family with unknown number of affected m...
613862.G.8Saudi Arabia4+PathogenicRetinitis Pigmentosa 38Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Asha Deepthi: 27.05.2021

Edit History

  • Sayeeda Hana: 20.08.2024
  • Sayeeda Hana: 15.08.2024
  • Sayeeda Hana: 13.08.2024
  • Sayeeda Hana: 07.08.2024
  • Asha Deepthi: 21.07.2022
  • Asha Deepthi: 27.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.