NM_006269.1:c.3677dup

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  2. NM_006269.1:c.3677dup

HGVS Expressions

  • NG_009840.1:g.16493dup
  • NM_006269.1:c.3677dup
  • NP_006260.1:p.Asn1226LysfsTer2

Associated Genes

RP1 Gene
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Genomic Location

chr8:54627559

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180100.4.1Iraq2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Index patient
180100.4.2Iraq2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Sister of 180100.4.1
180100.4.3Iraq2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Brother of 180100.4.1
180100.4.4Iraq2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012 Sister of 180100.4.1
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Contributors

  • Sayeeda Hana: 05.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sami Bizzari: 13.10.2021
  • Sayeeda Hana: 09.11.2020
  • Sayeeda Hana: 05.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.