604131.G.1

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Country

Algeria

HPO Terms

Decreased mean corpuscular volume; Poikilocytosis
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Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NC_000016.10:g.173384_177187del2+
G (Philadelphia) NM_000517.6:c.207C>R2+
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Remarks

A large consanguineous Algerian family with atleast 2 homozygotes and an unknown number of heterozygotes

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.