NM_017755.6:c.1020del

HGVS Expressions

  • NG_028215.1:g.21633del
  • NM_017755.6:c.1020del
  • NP_060225.4:p.Gly341ValfsTer15
  • NC_000005.10:g.6616729del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

828097

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611091.1.1United Arab Emirates2PathogenicMental Retardation, Autosomal Recessive 5Komara et al. 2015
611091.1.2United Arab Emirates1PathogenicKomara et al. 2015 Parent of 611091.1.1
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