NM_000260.4:c.5637-7_5742+8del

HGVS Expressions

  • NM_000260.4:c.5637-7_5742+8del
  • NC_000011.10:g.77206090_77206210del

Associated Genes

Myosin VIIA
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276900.8United Arab Emirates2Likely PathogenicUsher Syndrome Type IKhan. 2024 Patient from 'family 3' in the publicati...
600060.G.2United Arab Emirates4Likely PathogenicDeafness, Autosomal Recessive 2Elsayed O and Al-Shamsi A. 2022 Two patients with deafness exhibiting a ...
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