NM_000260.4:c.1952_1953insAG

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HGVS Expressions

  • NG_009086.2:g.51527_51528insAG
  • NM_000260.4:c.1952_1953insAG
  • NP_000251.3:p.Cys652fs

Associated Genes

Myosin VIIA
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Genomic Location

chr11:77174772-77174773

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

dbSNP

111033510

Clinvar

43165

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.2Iraq2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014
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Contributors

  • Pratibha Nair: 31.08.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 31.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.