NM_206933.4:c.14031dup

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HGVS Expressions

  • NG_009497.2:g.757375dup
  • NM_206933.4:c.14031dup
  • NP_996816.3:p.Ala4678fs
  • NC_000001.11:g.215671074dup

Associated Genes

USH2A gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

397517988

Clinvar

48426

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276901.3Lebanon2PathogenicUsher Syndrome, Type IIAReddy et al. 2014 The patient had 2 similarly affected bro...
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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.