NM_004318.3:c.1852_1856delAACCTinsGGG

HGVS Expressions

  • NG_013210.1:g.193616_193620delAACCTinsGGG
  • NM_004318.3:c.1852_1856delAACCTinsGGG
  • NP_004309.2:p.Ser589Glufs*18
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Genomic Location

Chr8:61526021-61526025

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

137614

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601552.3Saudi Arabia2PathogenicFacial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering BlebsPatel et al, 2014
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