NM_000448.2:c.519delT

HGVS Expressions

  • NG_007528.1:g.10811del
  • NM_000448.2:c.519delT
  • NP_000439.1:p.Glu174SerfsTer27
  • NC_000011.10:g.36573823del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

13153

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609889.1.1Algeria2PathogenicAlpha/Beta T-Cell Lymphoma with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunityde Villartay et al., 2005
609889.1.2Algeria1Pathogenicde Villartay et al., 2005 Mother of 609889.1.1
609889.1.3Algeria1Pathogenicde Villartay et al., 2005 Father of 609889.1.1
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