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rs587781442

From SNPedia

ClinVar
Risk rs587781442(GACATTTTTCCTACCACTTC;GACATTTTTCCTACCACTTC)
Alt rs587781442(GACATTTTTCCTACCACTTC;GACATTTTTCCTACCACTTC)
Reference rs587781442(;)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MRE11A
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000011.9:g.94169013_94169032dup20
CLNSRC
CLNACC RCV000129354.3, RCV000219080.1,