NM_012106.3:c.207+1G>T

HGVS Expressions

  • NG_033905.1:g.8519G>T
  • NM_012106.3:c.207+1G>T
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Genomic Location

16: 57248644

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

559501

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615434.1.1Morocco2PathogenicRetinitis Pigmentosa 82 with or without Situs Inversus Audo et al, 2017
615434.1.2Morocco2PathogenicRetinitis Pigmentosa 82 with or without Situs Inversus Audo et al, 2017 Sibling of 615434.1.1
615434.1.3Morocco1PathogenicAudo et al, 2017 Unaffected sibling of 615434.1.1
615434.1.4Morocco1PathogenicAudo et al, 2017 Unaffected father of 615434.1.1
615434.1.5Morocco1PathogenicAudo et al, 2017 Unaffected mother of 615434.1.1
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