NM_003816.3:c.1130+1G>A

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HGVS Expressions

  • NG_016335.2:g.34840G>A
  • NM_003816.3:c.1130+1G>A
  • NP_003807.1:p.?
  • NC_000008.11:g.39026811G>A

Associated Genes

A Disintegrin and Metalloproteinase Domain 9
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205085

Clinvar

6876

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612775.G.1Saudi Arabia4+PathogenicCone-Rod Dystrophy 9Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 28.08.2024

Edit History

  • Sayeeda Hana: 28.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.