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rs139428292(A;G)

From SNPedia
Carrier of a mutation for thrombocytopenia-absent radius syndrome
Is agenotype
ofrs139428292
GeneRBM8A, LOC105371260
Chromosome1
Position145,927,447
mentionedby
Magnitude3
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

Unaffected in absence of another pathogenic mutation in the RBM8A gene; see rs139428292