Bourmedes NM_000558.5:c.113C>G

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  2. Bourmedes NM_000558.5:c.113C>G

HGVS Expressions

  • NG_059186.1:g.5296C>G
  • NM_000558.5:c.113C>G
  • NP_000549.1:p.Pro38Arg

Associated Genes

Hemoglobin - Alpha Locus 1
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Genomic Location

chr16:176946

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

35776155

Clinvar

15706

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.10Algeria2Likely PathogenicAlpha-ThalassemiaDahmane-Arbane et al. 1987 Propositus of an Algerian family
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Contributors

  • Sayeeda Hana: 29.11.2020

Edit History

  • Sayeeda Hana: 24.03.2021
  • Sayeeda Hana: 29.11.2020
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© CAGS 2024. All rights reserved.