NM_173791.5:c.894C>G

HGVS Expressions

  • NM_173791.5:c.894C>G
  • NP_776152.1:p.Tyr298Ter
  • NC_000010.11:g.117341081G>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1703716

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620021.2United Arab Emirates2PathogenicIntellectual Developmental Disorder with Autism and Dysmorphic FaciesAl-Amri et al. 2022
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