NM_006996.3:c.1223+1G>A

HGVS Expressions

  • NG_008255.1:g.22328G>A
  • NM_006996.3:c.1223+1G>A
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Genomic Location

chr1:169468643

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249270.3Lebanon2PathogenicThiamine-Responsive Megaloblastic Anemia SyndromeRaz et al. 2000
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