NM_000330.4:c.52+3A>G

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HGVS Expressions

  • NG_008659.3:g.10435A>G
  • NM_000330.4:c.52+3A>G
  • NP_000321.1:p.?
  • NC_000023.11:g.18672014T>C

Associated Genes

Retinoschisin
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1301833

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312700.G.1United Arab Emirates3NALikely PathogenicRetinoschisis 1, X-Linked, JuvenileKhan. 2020 3 patients with X-linked retinoschisis
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Contributors

  • Asha Deepthi: 02.06.2021

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 02.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.