NM_006565.4:c.615_618del

HGVS Expressions

  • NG_033892.1:g.54041_54044del
  • NM_006565.4:c.615_618del
  • NP_006556.1:p.Lys206ProfsTer15
  • NC_000016.10:g.67611447_67611450del

Associated Genes

CCCTC-Binding Factor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

521287

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615502.2United Arab Emirates1NALikely PathogenicMental Retardation, Autosomal Dominant 21Bastaki et al. 2017 Mutation identified in proband is de nov...
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