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rs587782444

From SNPedia

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk
Alt
Reference Rs587782444(TCTAGAATT;TCTAGAATT)
Significance Pathogenic
Disease Ataxia-telangiectasia T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia, complementation group E T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108202614_108202622delTAGAATTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003155.3, RCV000003163.5, RCV000185637.3, RCV000206671.2, RCV000212075.3,