GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FGB R14Cinsufficiently evaluated pathogenicunknown

(6 web hits)

FGB G15Cinsufficiently evaluated pathogenicunknown

(7 web hits)

FGB R17Xinsufficiently evaluated pathogenicunknown

(14 web hits)

FGB R44Cinsufficiently evaluated pathogenicunknown

(17 web hits)

FGB R47Xpathogenicrecessive

Proposed to cause severe hypofibrinogenemia in a recessive manner. Seen homozygously in one of three patients by Asselta et al 2002 (PMID: 12161363), and heterozygously in a single case reported by Asselta et al 2004 (PMID: 15070683).

FGB A68Tinsufficiently evaluated pathogenicunknown

(8 web hits)

FGB P100Sinsufficiently evaluated none, f=0.002unknown

(4 web hits)

FGB I123Vinsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
FGB K160Rinsufficiently evaluated not reviewedunknown
FGB R166Cinsufficiently evaluated pathogenicunknown

(3 web hits)

FGB L172Qinsufficiently evaluated pathogenicunknown

(3 web hits)

FGB S189Rinsufficiently evaluated noneunknown

(2 web hits)

FGB A335Tinsufficiently evaluated pathogenicunknown

(1 web hit)

FGB L353Rinsufficiently evaluated pathogenicunknown

(17 web hits)

FGB G400Dinsufficiently evaluated pathogenicunknown

(11 web hits)

FGB R419Kinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
FGB R448Kinsufficiently evaluated pathogenicunknown

(21 web hits)

FGB D463Ginsufficiently evaluated noneunknown
FGB R478Kinsufficiently evaluated none, f=0.155unknown

(5 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18558-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19239-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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