NM_000092.4:c.2420del

HGVS Expressions

  • NG_011592.1:g.111996del
  • NM_000092.4:c.2420del
  • NP_000083.3:p.Gly807ValfsTer62
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Genomic Location

12:227057565

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

191313

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613944.G.2Saudi Arabia6PathogenicIgA Nephropathy, Susceptibility to, 2Li et al. 2020 Family with multiple affected members. I...
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