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rs139428292(A;A)

From SNPedia
Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely
Is agenotype
ofrs139428292
GeneRBM8A, LOC105371260
Chromosome1
Position145,927,447
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(A;A) 5 Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely
(A;G) 3 Carrier of a mutation for thrombocytopenia-absent radius syndrome
(G;G) 0 common in clinvar

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).