NM_000390.4:c.1144G>T

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  2. NM_000390.4:c.1144G>T

HGVS Expressions

  • NM_000390.4:c.1144G>T
  • NP_000381.1:p.Glu382Ter
  • NC_000023.11:g.85956175C>A

Associated Genes

CHM RAB Escort Protein
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205604

Clinvar

191251

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
303100.1Saudi Arabia2PathogenicChoroideremiaPatel et al. 2016
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Contributors

  • Sayeeda Hana: 23.07.2024

Edit History

  • Sayeeda Hana: 23.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.