NM_000350.3:c.1630_1633dup

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HGVS Expressions

  • NG_009073.2:g.62906_62909dup
  • NM_000350.3:c.1630_1633dup
  • NP_000341.2:p.Asn545ArgfsTer12
  • NC_000001.11:g.94063239_94063242dup

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

793888523

Clinvar

191262

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601718.G.2Saudi Arabia4+PathogenicRetinitis Pigmentosa 19Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 24.07.2024

Edit History

  • Sayeeda Hana: 24.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.