NM_004999.4:c.2751dup

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HGVS Expressions

  • NG_009934.2:g.145957dup
  • NM_004999.4:c.2751dup
  • NP_004990.3:p.Gln918ThrfsTer24
  • NC_000006.12:g.75890149dup

Associated Genes

Myosin VI
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

551348450

Clinvar

523937

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607821.GUnited Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 37Elsayed O and Al-Shamsi A. 2022 Two patients. No other information provi...
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Contributors

  • Sami Bizzari: 03.10.2023

Edit History

  • Sami Bizzari: 19.10.2023
  • Sami Bizzari: 03.10.2023
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.