Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely |
Geno
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Mag
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Summary
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(A;A)
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5
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Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely
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(A;G)
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3
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Carrier of a mutation for thrombocytopenia-absent radius syndrome
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(G;G)
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0
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common in clinvar
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See rs139428292; the frequency with which Promethease users are reported to be (A;A) seems both high and yet roughly in accordance with population predictions, but since TAR syndrome is quite rare, this genotype seems to either be unrelated or at least to have very low penetrance. If you have this genotype, and have any symptoms associated with thrombocytopenia-absent radius syndrome, please email us (info@snpedia.com).