NM_058172.6:c.867_945del

HGVS Expressions

  • NG_015987.1:g.59348_59426del
  • NM_058172.6:c.867_945del
  • NP_477520.2:p.Glu289AspfsTer22
  • NC_000004.12:g.80018898_80018976del

Associated Genes

Anthrax Toxin Receptor 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

623291

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228600.10Oman2NALikely PathogenicHyaline Fibromatosis SyndromeMaddirevula et al. 2018
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