NM_153700.2:c.4510del

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  2. NM_153700.2:c.4510del

HGVS Expressions

  • NG_011636.1:g.20524del
  • NM_153700.2:c.4510del
  • NP_714544.1:p.Glu1504ArgfsTer32
  • NC_000015.10:g.43603277del

Associated Genes

Stereocilin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

759816064

Clinvar

1325151

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603720.1.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 16Mahfood et al. 2019
603720.1.2United Arab Emirates1Mahfood et al. 2019 Father of 603720.1.1
603720.1.3United Arab Emirates1Mahfood et al. 2019 Mother of 603720.1.1
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Contributors

  • Pratibha Nair: 15.04.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 15.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.