NM_000260.4:c.3591_3592del

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HGVS Expressions

  • NG_009086.2:g.66186_66187del
  • NM_000260.4:c.3591_3592del
  • NP_000251.3:p.Cys1198ArgfsTer30
  • NC_000011.10:g.77189431_77189432del

Associated Genes

Myosin VIIA
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1555090368

Clinvar

228378

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276900.5Saudi Arabia2PathogenicUsher Syndrome Type IPatel et al. 2016
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Contributors

  • Sayeeda Hana: 15.08.2024

Edit History

  • Sayeeda Hana: 15.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.