GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KLF11 Q45Rinsufficiently evaluated not reviewedunknown
KLF11 Q62Rinsufficiently evaluated none, f=0.094unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
var-GS06985-1100-36-ASM
KLF11 Q62Linsufficiently evaluated not reviewedunknown

(19 web hits)

KLF11 D137Ginsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
KLF11 T220Mpathogenic, f=0.015dominant

Reported by Neve et al. to be a dominant cause of early-onset monogenic type II diabetes mellitus (maturity onset diabetes of the young). If true, carriers would be predicted to have a family history of diabetes. Florez et al. contradicted other findings in this gene made by Neve et al. for the Q62R polymorphism, and were unable to find any carriers of this rare variant (thus unable to investigate).

var-GS18505-1100-36-ASM
KLF11 A349Sinsufficiently evaluated pathogenicunknown
KLF11 M477Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
KLF11 RI494KVinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
Total results: 8

Gene search

"GENE" or "GENE A123C":

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