NM_000330.4:c.304C>T

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HGVS Expressions

  • NG_008659.3:g.35236C>T
  • NM_000330.4:c.304C>T
  • NP_000321.1:p.Arg102Trp
  • NC_000023.11:g.18647213G>A

Associated Genes

Retinoschisin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

61752067

Clinvar

9887

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.4.2United Arab Emirates1Likely PathogenicRetinoschisis 1, X-Linked, JuvenileKhan and El-Ghrably. 2019 Brother of 600105.1.1. This patient has ...
600105.4.3United Arab Emirates2Likely PathogenicRetinoschisis 1, X-Linked, JuvenileKhan and El-Ghrably. 2019; Alsalamah et al. 2020 Sister of 600105.1.1. This patient has h...
600105.4.4United Arab Emirates1Khan and El-Ghrably. 2019 Mother of 600105.1.1
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Contributors

  • Asha Deepthi: 19.04.2021

Edit History

  • Asha Deepthi: 20.04.2021
  • Asha Deepthi: 19.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.