NM_005584.5:c.279_286del

HGVS Expressions

  • NG_028156.1:g.538574_538567del
  • NP_005575.1:p.Ser93fs*48

Associated Genes

MAB21-Like 1
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Genomic Location

chr13:35475860-35475853

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618479.1Lebanon2PathogenicRad et al. 2018 Elder sister reported to have hydrocepha...
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