NM_004713.6:c.1234_1235insC

HGVS Expressions

  • NG_051075.1:g.29398_29399insC
  • NM_004713.6:c.1234_1235insC
  • NP_004704.3:p.Asn412ThrfsTer11
  • NC_000014.9:g.49828805_49828806insG
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Clinvar

986405

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.5.1Saudi Arabia2NAPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyAhmed et al. 2021 Patient from 'family 4' in the publicati...
619099.5.2Saudi Arabia1NAAhmed et al. 2021 Father of 619099.5.1
619099.5.3Saudi Arabia1NAAhmed et al. 2021 Mother of 619099.5.1
619099.6.1Saudi Arabia2NAPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyAhmed et al. 2021 Patient from 'family 5' in the publicati...
619099.6.2Saudi Arabia1NAAhmed et al. 2021 Father of 619099.6.1
619099.6.3Saudi Arabia1NAAhmed et al. 2021 Mother of 619099.6.1
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