NM_016247.4:c.189dup

HGVS Expressions

  • NG_028284.1:g.5847dup
  • NM_016247.4:c.189dup
  • NP_057331.2:p.Gln64ThrfsTer9
  • NC_000003.12:g.101319731dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

978976

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.2.1United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019
613581.2.2United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019 Sibling of 613581.2.1
613581.2.3United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019 Sibling of 613581.2.1
613581.2.4United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019 Sibling of 613581.2.1
613581.2.5United Arab Emirates1Khan et al. 2019 Father of 613581.2.1
613581.2.6United Arab Emirates1Khan et al. 2019 Mother of 613581.2.1
613581.3United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019
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