NC_000003.12:g.69576082_70313620del

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HGVS Expressions

  • NC_000003.12:g.69576082_70313620del

Associated Genes

Microphthalmia-Associated Transcription Factor
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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
193510.3United Arab Emirates1Likely PathogenicWaardenburg Syndrome, Type 2AAlabdullatif et al. 2017 Sister with hearing impairment
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Contributors

  • Pratibha Nair: 23.06.2022

Edit History

  • Pratibha Nair: 23.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.