GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SQSTM1 H97Linsufficiently evaluated not reviewedunknown
SQSTM1 H181Linsufficiently evaluated not reviewedunknown
SQSTM1 E190Dinsufficiently evaluated noneunknown
SQSTM1 E235Kinsufficiently evaluated noneunknown
SQSTM1 V240Iinsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
SQSTM1 V255Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
SQSTM1 D258Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
SQSTM1 E274Dinsufficiently evaluated none, f=0.018unknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
SQSTM1 R312Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18517-1100-36-ASM
SQSTM1 E319Kinsufficiently evaluated none, f=0.014unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18517-1100-36-ASM
SQSTM1 R321Cinsufficiently evaluated not reviewed, f=0.011unknown var-GS18504-1100-36-ASM
SQSTM1 P392Lpathogenic, f=0.001dominant

Associated with Paget’s Disease of the Bone in a dominant manner, which causes abnormal growth of bone. Many carriers are asymptomatic, others present with bone pain, deformity, fractures, and associated complications (including hearing loss, osteoarthritis, and nerve compression). Susceptibility is related to age, with most (but not all) of older carriers (>60 years) reported to have symptoms of the disease.

(307 web hits)

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Total results: 12

Gene search

"GENE" or "GENE A123C":

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