NM_004713.6:c.2871_2875dup

HGVS Expressions

  • NG_051075.1:g.69034_69038dup
  • NM_004713.6:c.2871_2875dup
  • NP_004704.3:p.Asp959ValfsTer2
  • NC_000014.9:g.49789166_49789170dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

986402

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.2.1Saudi Arabia2NAPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyMartin et al. 2020 Patient from 'family SAU1' in the public...
619099.2.2Saudi Arabia2NAPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyMartin et al. 2020 Brother of 619099.2.1
619099.2.GSaudi Arabia3NAMartin et al. 2020 Unaffected relatives of 619099.2.1 (pare...
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