613985.G.9.1 - CAGS

613985.G.9.1

Country

Kuwait

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.25_26del			Beta-Thalassemia
NM_000518.5:c.92+1G>A			Beta-Thalassemia
NM_000518.5:c.92+5G>C			Beta-Thalassemia
NM_000518.5:c.92+6T>C			Beta-Thalassemia
NM_000518.5:c.93-21_96del			Beta-Thalassemia
NM_000518.5:c.93-21G>A			Beta-Thalassemia
NM_000518.5:c.118C>T			Beta-Thalassemia
NM_000518.5:c.135del			Beta-Thalassemia
NM_000518.5:c.315+1G>A			Beta-Thalassemia
NM_000518.5:c.27dup			Beta-Thalassemia
NM_000518.5:c.112del			Beta-Thalassemia

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Remarks

Mutations identified in 41 unrelated Kuwaiti families of Saudi, Iranian, Iraqi, or Bedouin origin

References

Adekile et al. 1994

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613985.G.9.2	Kuwait	Anemia	Unknown			Mutations identified in an Egyptian family residing in Kuwait
613985.G.9.3	Kuwait	Anemia	Unknown			Mutations identified in an Palestinian family residing in Kuwait
613985.G.9.4	Kuwait	Anemia	Unknown			Mutations identified in an Lebanese family residing in Kuwait

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.