NM_004380.3:c.4890+2T>C

HGVS Expressions

  • NG_009873.1:g.153347T>C
  • NM_004380.3:c.4890+2T>C
  • NC_000016.10:g.3731774A>G

Associated Genes

CREB-Binding Protein
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191065

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180849.3Saudi Arabia1NAPathogenicRubinstein-Taybi Syndrome 1Maddirevula et al. 2018 De novo mutation
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