NM_001033855.3:c.265A>G

HGVS Expressions

  • NG_007276.1:g.19245A>G
  • NM_001033855.3:c.265A>G
  • NP_001029027.1:p.Thr89Ala
  • NC_000010.11:g.14939851T>C
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

968725

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602450.1.1Lebanon1Likely PathogenicMehawej et al. 2020 Parent of child with T-B-NK+ SCID. Affec...
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