NM_016247.4:c.2346_2347del

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HGVS Expressions

  • NG_028284.1:g.81591_81592del
  • NM_016247.4:c.2346_2347del
  • NP_057331.2:p.Arg782SerfsTer24
  • NC_000003.12:g.101243990_101243991del

Associated Genes

Interphotoreceptor Matrix Proteoglycan 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1706441535

Clinvar

978983

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.G.2Saudi Arabia4+PathogenicRetinitis Pigmentosa 56Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 02.08.2024

Edit History

  • Sayeeda Hana: 02.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.