613985.G.7 - CAGS

613985.G.7

Country

Iraq

HPO Terms

Anemia

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Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000518.5:c.17_18del		10.6	Beta-Thalassemia
NM_000518.5:c.25_26del		2.9	Beta-Thalassemia
NM_000518.5:c.92+1G>A		8.7	Beta-Thalassemia
NM_000518.5:c.92+5G>C		6.7	Beta-Thalassemia
NM_000518.5:c.92+6T>C		8.7	Beta-Thalassemia
NM_000518.5:c.93-21G>A		1.9	Beta-Thalassemia
NM_000518.5:c.118C>T		8.7	Beta-Thalassemia
NM_000518.5:c.135del		12.5	Beta-Thalassemia
NM_000518.5:c.315+1G>A		18.3	Beta-Thalassemia
NM_000518.5:c.27dup		7.7	Beta-Thalassemia
Hb Monroe NM_000518.5:c.92G>C		1.0	Beta-Thalassemia
NM_000518.5:c.68_74del		1.0	Beta-Thalassemia

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Remarks

Mutations identified in parents of β-thalassaemia major/intermedia patients from Dohuk region. Consanguinity was observed in 64.4% of study subjects.

References

Al-Allawi et al. 2006

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.