NM_206933.4:c.532dup

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HGVS Expressions

  • NG_009497.2:g.9816dup
  • NM_206933.4:c.532dup
  • NP_996816.3:p.Thr178fs
  • NC_000001.11:g.216418633dup

Associated Genes

USH2A gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1571801788

Clinvar

813346

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276901.2Lebanon2PathogenicUsher Syndrome, Type IIAReddy et al. 2014
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Contributors

  • Sayeeda Hana: 10.03.2021

Edit History

  • Sayeeda Hana: 22.03.2021
  • Sayeeda Hana: 10.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.