NC_000016.10:g.3828398_5219398del

HGVS Expressions

  • NC_000016.10:g.3828398_5219398del

Associated Genes

CREB-Binding Protein
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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
180849.5United Arab Emirates1Likely PathogenicRubinstein-Taybi Syndrome 1Alabdullatif et al. 2017
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