NM_032504.1:c.1679_1680delAC

HGVS Expressions

  • NG_051361.1:g.51014_51015AC[1]
  • NM_032504.1:c.1679_1680delAC
  • NP_115893.1:p.Thr561fs
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Genomic Location

chr2:209817938-209817939

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

684714

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616801.4.1Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018
616801.4.2Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Sibling of 616801.4.1
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