NM_017755.6:c.538-1G>C

HGVS Expressions

  • NG_028215.1:g.16260G>C
  • NM_017755.6:c.538-1G>C
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Genomic Location

chr5:6622101

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

37005

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611091.2.1Lebanon2PathogenicMental Retardation, Autosomal Recessive 5Martinez et al. 2012 The novel mutation deletes the splice ac...
611091.2.2Lebanon2PathogenicMental Retardation, Autosomal Recessive 5Martinez et al. 2012
611091.2.3Lebanon2PathogenicMental Retardation, Autosomal Recessive 5Martinez et al. 2012
611091.2.4Lebanon1PathogenicMartinez et al. 2012 Mother of siblings 611091.2.1-611091.2.3
611091.2.5Lebanon1PathogenicMartinez et al. 2012 Father of siblings 611091.2.1-611091.2.3
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