NM_016247.4:c.2274G>A

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  2. NM_016247.4:c.2274G>A

HGVS Expressions

  • NG_028284.1:g.81519G>A
  • NM_016247.4:c.2274G>A
  • NP_057331.2:p.Trp758Ter

Associated Genes

Interphotoreceptor Matrix Proteoglycan 2
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Genomic Location

chr3:101244057

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205564

Clinvar

191180

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.1Saudi Arabia2PathogenicRetinitis Pigmentosa 56Patel et al, 2018
613581.6Saudi Arabia2PathogenicRetinitis Pigmentosa 56Patel et al. 2016
613581.G.1Saudi Arabia6PathogenicRetinitis Pigmentosa 56Patel et al, 2018 3 members of a family
613581.G.3Saudi Arabia4+PathogenicRetinitis Pigmentosa 56Patel et al. 2016 Family with unknown number of affected m...
613581.G.4Saudi Arabia4+PathogenicRetinitis Pigmentosa 56Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 15.06.2020

Edit History

  • Sayeeda Hana: 21.08.2024
  • Sayeeda Hana: 15.08.2024
  • Sayeeda Hana: 14.08.2024
  • Sayeeda Hana: 17.06.2020
  • Sayeeda Hana: 15.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.