Hb Casablanca NM_000518.4:c.[197A>T;367T>C]

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HGVS Expressions

  • NG_059281.1:g.[5377A>T;6397T>C]
  • NM_000518.4:c.[197A>T;367T>C]
  • NP_000509.1:p.[Lys66Met;Phe123Leu]
  • NC_000011.10:g.[5226695T>A;5225675A>G]

Associated Genes

Hemoglobin - Beta Locus
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CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Haplotype

dbSNP

33932548 33971848

Clinvar

446744

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.21.1MoroccoLikely PathogenicBeta-ThalassemiaWajcman et al., 2000 Proband
613985.21.2MoroccoUncertain SignificanceBeta-ThalassemiaWajcman et al., 2000 Son of Proband, variant detected during ...
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Contributors

  • Asha Deepthi: 10.01.2021

Edit History

  • Asha Deepthi: 18.01.2021
  • Asha Deepthi: 10.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.