NM_000180.4:c.1401dup

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HGVS Expressions

  • NG_009092.1:g.9413dup
  • NM_000180.4:c.1401dup
  • NP_000171.1:p.Leu468SerfsTer89
  • NC_000017.11:g.8007082dup

Associated Genes

Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

3067973

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.10Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Khan et al. 2014
204000.12Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Khan et al. 2014
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Contributors

  • Sayeeda Hana: 04.09.2024

Edit History

  • Sayeeda Hana: 04.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.