NM_006269.2:c.662del

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HGVS Expressions

  • NG_009840.1:g.11097del
  • NM_006269.2:c.662del
  • NP_006260.1:p.Ala221fs

Associated Genes

RP1 Gene
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Genomic Location

chr8:54622163

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

979012

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180100.3.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009
180100.3.2Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009 Brother of 180100.3.1
180100.3.3Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009 Brother of 180100.3.1
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Contributors

  • Sayeeda Hana: 03.11.2020

Edit History

  • Sayeeda Hana: 05.11.2020
  • Sayeeda Hana: 03.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.