NM_018965.4:c.40+4_40+6del

HGVS Expressions

  • NG_011561.1:g.5146_5148del
  • NM_018965.4:c.40+4_40+6del
  • NC_000006.12:g.41163038_41163040del
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

56723

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605086.1.1Lebanon2PathogenicPure Early-Onset Dementia Without Bone CystsChouery et al, 2008
605086.1.2Lebanon2PathogenicPure Early-Onset Dementia Without Bone CystsChouery et al, 2008 Sibling of 605086.1.1
605086.1.3Lebanon2PathogenicPure Early-Onset Dementia Without Bone CystsChouery et al, 2008 Sibling of 605086.1.1
605086.1.4Lebanon1PathogenicChouery et al, 2008 Sibling of 605086.1.1
605086.1.5Lebanon1PathogenicChouery et al, 2008 Sibling of 605086.1.1
605086.1.6Lebanon1PathogenicChouery et al, 2008 Sibling of 605086.1.1
605086.1.7Lebanon1PathogenicChouery et al, 2008 Sibling of 605086.1.1
605086.1.8Lebanon1PathogenicChouery et al, 2008 Mother of 605086.1.1
605086.1.9Lebanon1PathogenicChouery et al, 2008 Father of 605086.1.1
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