NM_004380.3:c.2204del

HGVS Expressions

  • NG_009873.1:g.110473del
  • NM_004380.3:c.2204del
  • NP_004371.2:p.Pro735HisfsTer13
  • NC_000016.10:g.3774649del

Associated Genes

CREB-Binding Protein
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180849.4Saudi Arabia1NAPathogenicRubinstein-Taybi Syndrome 1Maddirevula et al. 2018 De novo mutation
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