NM_006565.4:c.1699C>T

HGVS Expressions

  • NG_033892.1:g.71144C>T
  • NM_006565.4:c.1699C>T
  • NP_006556.1:p.Arg567Trp
  • NC_000016.10:g.67628550C>T

Associated Genes

CCCTC-Binding Factor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

88638

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615502.3United Arab Emirates1PathogenicMental Retardation, Autosomal Dominant 21Saleh et al. 2021 de novo mutation
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