NM_000104.3:c.535delG

HGVS Expressions

  • NG_008386.2:g.6248delG
  • NM_000104.3:c.535delG
  • NP_000095.2:p.Ala179fs
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Genomic Location

chr2:38074855

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

523943

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.30Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 No response to surgery and medication
231300.31Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.34Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010
231300.35Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 No response to surgery and medication ...
231300.G.16Morocco14PathogenicGlaucoma 3, Primary Congenital, ABelmouden et al. 2002 7 affected patients
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