NM_130445.4:c.2118dup

HGVS Expressions

  • NG_011903.1:g.91093dup
  • NM_130445.4:c.2118dup
  • NP_569712.2:p.Gly707ArgfsTer23
  • NC_000021.9:g.45491275dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

65411

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
267750.1United Arab Emirates2Likely PathogenicKnobloch Syndrome 1Khan. 2020
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