NM_001350748.2:c.1489del

HGVS Expressions

  • NG_053176.1:g.192677del
  • NM_001350748.2:c.1489del
  • NP_001337677.1:p.Tyr497fs
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Genomic Location

chr13:101229530

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

88686

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.2.1Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Al-Sayed et al. 2013
615419.2.2Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Al-Sayed et al. 2013 Sibling of 615419.2.1
615419.2.3Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Al-Sayed et al. 2013 First cousin once removed of 615419.2.1
615419.2.4Saudi Arabia1PathogenicAl-Sayed et al. 2013 Father of 615419.2.1
615419.2.5Saudi Arabia1PathogenicAl-Sayed et al. 2013 Mother of 615419.2.1
615419.2.6Saudi Arabia1PathogenicAl-Sayed et al. 2013 Father of 615419.2.3
615419.2.7Saudi Arabia1PathogenicAl-Sayed et al. 2013 Mother of 615419.2.3
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