NM_006996.3:c.454_458delGGCATinsTA

HGVS Expressions

  • NG_008255.1:g.13463_13467deldelGGCATinsTA
  • NM_006996.3:c.454_458delGGCATinsTA
  • NP_008927.1:p.Gly152Ilefs*
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Genomic Location

chr1:169477504:169477508

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249270.1Lebanon2Likely PathogenicThiamine-Responsive Megaloblastic Anemia SyndromeBergmann et al. 2009
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