NM_004713.6:c.2517_2520del

HGVS Expressions

  • NG_051075.1:g.62311_62314del
  • NM_004713.6:c.2517_2520del
  • NP_004704.3:p.Gly841ArgfsTer27
  • NC_000014.9:g.49795890_49795893del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.3.1Egypt2NALikely PathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyAnazi et al. 2017a
619099.3.2Egypt2NALikely PathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyAnazi et al. 2017a Brother of 619099.3.1
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