NM_000517.6:c.118_124delinsTACTTC

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  2. NM_000517.6:c.118_124delinsTACTTC

HGVS Expressions

  • NG_059271.1:g.5301_5307delinsTACTTC
  • NM_000517.6:c.118_124delinsTACTTC
  • NP_000508.1:p.Thr40fs

Associated Genes

Hemoglobin--Alpha Locus 2
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Genomic Location

chr16:173147-173153

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

587776826

Clinvar

15657

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.5Yemen1PathogenicAlpha-ThalassemiaOron-Karni et al. 1997 Patient of Yemeni-Jewish origin
604131.6Yemen1PathogenicAlpha-ThalassemiaOron-Karni et al. 1997 Patient of Yemeni-Jewish origin
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Contributors

  • Sayeeda Hana: 29.11.2020

Edit History

  • Sayeeda Hana: 13.12.2020
  • Sayeeda Hana: 29.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.