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600502.1.G
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Subject Details
Country
Lebanon
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002180.2:c.2316C>T
2
NM_002180.2:c.2011A>G
2
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Remarks
Two unaffected female relatives of 6000502.1 with polymorphisms in IGHMBP2.
References
Viollet et al. 2002
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