NM_000180.4:c.2285del

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HGVS Expressions

  • NG_009092.1:g.16232del
  • NM_000180.4:c.2285del
  • NP_000171.1:p.Ser762ThrfsTer22
  • NC_000017.11:g.8013901del

Associated Genes

Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

3362734

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.14Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Khan et al. 2014
204000.16Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Monies et al. 2017
204000.G.2Saudi Arabia4+Likely PathogenicLeber Congenital Amaurosis 1Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 11.08.2024

Edit History

  • Asha Deepthi: 16.12.2024
  • Sayeeda Hana: 05.09.2024
  • Sayeeda Hana: 12.08.2024
  • Sayeeda Hana: 11.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.