NM_007326.4:c.813_815delinsAA

HGVS Expressions

  • NM_007326.4:c.813_815delinsAA
  • NP_015565.1:p.Thr272ArgfsTer54
  • NC_000022.11:g.42619795_42619797delinsTT
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CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250800.1.1Lebanon2PathogenicMethemoglobinemia due to Deficiency of Methemoglobin ReductaseLeroux et al, 2005
250800.1.2Lebanon1PathogenicLeroux et al, 2005 Mother of 250800.1.1
250800.1.3Lebanon1PathogenicLeroux et al, 2005 Father of 250800.1.1
250800.1.4Lebanon1PathogenicLeroux et al, 2005 Sibling of 250800.1.1
250800.1.5Lebanon1PathogenicLeroux et al, 2005 Sibling of 250800.1.1. Genotyped with fe...
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