NM_006785.3:c.266G>T

HGVS Expressions

  • NG_033893.1:g.14841G>T
  • NM_006785.3:c.266G>T
  • NP_006776.1:p.Ser89Ile
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Genomic Location

chr18:58681226

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

66089

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615468.1.1Lebanon2PathogenicImmunodeficiency 12Jabara et al, 2013
615468.1.2Lebanon2PathogenicImmunodeficiency 12Jabara et al, 2013 Sibling of 615468.1.1
615468.1.3Lebanon1PathogenicJabara et al, 2013 Sibling of 615468.1.1
615468.1.4Lebanon1PathogenicJabara et al, 2013 Mother of 615468.1.1
615468.1.5Lebanon1PathogenicJabara et al, 2013 Father of 615468.1.1
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