NM_006996.3:c.725delC

HGVS Expressions

  • NG_008255.1:g.13734del
  • NM_006996.3:c.725delG
  • NP_008927.1:p.Pro242fs
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Genomic Location

chr1:169477238

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

5956

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249270.2Lebanon2PathogenicThiamine-Responsive Megaloblastic Anemia SyndromeRaz et al. 2000 Father and brother reported to have IDDM
249270.3Lebanon2PathogenicThiamine-Responsive Megaloblastic Anemia SyndromeRaz et al. 2000
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