NM_206933.4:c.486-1G>C

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HGVS Expressions

  • NG_009497.2:g.9769G>C
  • NM_206933.4:c.486-1G>C

Associated Genes

USH2A gene
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Genomic Location

chr1:216418680

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

876657730

Clinvar

228413

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276901.10Saudi Arabia2PathogenicUsher Syndrome, Type IIAAlmontashiri et al. 2018 Proband from "family F-12" in the public...
276901.G.1Saudi Arabia8PathogenicUsher Syndrome, Type IIAPatel et al, 2018 4 members of a family
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Asha Deepthi: 10.06.2025
  • Sayeeda Hana: 02.07.2020
  • Sayeeda Hana: 01.07.2020
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.