GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DTNBP1 E64Xinsufficiently evaluated not reviewedunknown
DTNBP1 Q103Xinsufficiently evaluated pathogenicunknown

(8 web hits)

DTNBP1 E145Xinsufficiently evaluated not reviewedunknown
DTNBP1 P191Sinsufficiently evaluated noneunknown

(1 web hit)

DTNBP1 R211Ginsufficiently evaluated noneunknown
DTNBP1 A212Sinsufficiently evaluated not reviewedunknown
DTNBP1 P272Suncertain protective, f=0.035recessive

Possibly a slight protective effect against colorectal cancer if homozygous.

(7 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B01_200_37
DTNBP1 R292Ginsufficiently evaluated none, f=0.031unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
DTNBP1 A293Sinsufficiently evaluated not reviewedunknown
DTNBP1 P296Sinsufficiently evaluated not reviewed, f=0.013unknown var-GS18501-1100-36-ASM
DTNBP1 H297Yinsufficiently evaluated noneunknown

(1 web hit)

DTNBP1 S305Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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