G (Philadelphia) NM_000517.6:c.207C>R

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  2. G (Philadelphia) NM_000517.6:c.207C>R

HGVS Expressions

  • NG_059271.1:g.5390C>R
  • NM_000517.6:c.207C>R
  • NP_000508.1:p.Asn69Lys

Associated Genes

Hemoglobin--Alpha Locus 2
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Genomic Location

chr16:173236

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

111033601

Clinvar

15638

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.G.1Algeria2+Uncertain SignificanceAlpha-ThalassemiaMorle et al. 1984 A large consanguineous Algerian family w...
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Contributors

  • Sayeeda Hana: 30.11.2020

Edit History

  • Sayeeda Hana: 30.11.2020
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© CAGS 2024. All rights reserved.