NM_080647.1:c.1158_1159delinsT

HGVS Expressions

  • NG_009229.1:g.14835_14836delinsT
  • NM_080647.1:c.1158_1159delinsT
  • NP_542378.1:p.Gly387AlafsTer73
  • NC_000022.11:g.19766537_19766538delinsT
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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
188400.1.1Saudi Arabia1PathogenicDiGeorge SyndromeAlghamdi et al. 2020 Proband
188400.1.2Saudi Arabia1PathogenicDiGeorge SyndromeAlghamdi et al. 2020 Sibling of proband
188400.1.3Saudi Arabia1PathogenicDiGeorge SyndromeAlghamdi et al. 2020 Sibling of proband
188400.1.4Saudi Arabia1PathogenicDiGeorge SyndromeAlghamdi et al. 2020 Father of proband. Siblings, parents, an...
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