613985.G.6 - CAGS

613985.G.6

Country

Comoros

HPO Terms

Anemia; Pallor

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Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000518.5:c.93-21G>A			Beta-Thalassemia
NM_000518.5:c.118C>T			Beta-Thalassemia
NM_000518.5:c.315+1G>A			Beta-Thalassemia
NM_000518.5:c.2T>C			Beta-Thalassemia

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Remarks

Mutations identified in β-thalassaemic heterozygotes during prenatal and neonatal screening.

References

Badens et al. 2000

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.