HGVS Expressions

  • NG_051075.1:g.20066G>T
  • NM_004713.6:c.574+1G>T
  • NP_004704.3:p.?
  • NC_000014.9:g.49838138C>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type




Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.4.1Saudi Arabia2NALikely PathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyAhmed et al. 2021 Patient from 'family 3' in the publicati...
619099.4.2Saudi Arabia1NAAhmed et al. 2021 Father of 619099.4.1
619099.4.3Saudi Arabia1NAAhmed et al. 2021 Mother of 619099.4.1
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