GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
F11 C38Rinsufficiently evaluated pathogenicunknown

(13 web hits)

F11 E117Xinsufficiently evaluated pathogenicrecessive

Factor XI Deficiency

(42 web hits)

F11 C128Xinsufficiently evaluated pathogenicunknown

(31 web hits)

F11 E135Xlikely pathogenic, f=0.001recessive

Causes factor XI deficiency in a recessive manner, with symptoms of increased susceptibility to bruising, bleeding, and nosebleeds. This variant appears to be a well-established cause of the disease and is common in patients with Ashkenazi Jewish ancestry. Asakai et al 1991 (PMID: 2052060) reports that about half of pathogenic variants found in patients with Ashkenazi Jewish ancestry are this variant, and the frequency of the variant is high in this ancestry (1 in 8 to 1 in 10 believed to be a carrier of this or another pathogenic variant).

CGI sample GS000005532
F11 Q244Rinsufficiently evaluated none, f=0.005unknown

(3 web hits)

var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
F11 K252Iinsufficiently evaluated pathogenicunknown

(1 web hit)

F11 F283Linsufficiently evaluated pathogenicrecessive

Factor XI Deficiency

(35 web hits)

F11 F301Lpathogenicrecessive

Causes factor XI deficiency, causing increased bleeding and impaired clotting. Recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012667/), this effect seems to be well-established by literature and is found in patients with Ashkenazi ancestry. Asakai et al 1991 (PMID: 2052060) called this variant “Type III” and report it accounted for 47% of disease-causing alleles in 46 patients studied.

F11 R308Cinsufficiently evaluated pathogenicunknown
F11 C339Finsufficiently evaluated not reviewed, f=0.006unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
F11 T386Ninsufficiently evaluated pathogenicunknown

(2 web hits)

F11 G400Vinsufficiently evaluated pathogenicunknown

(2 web hits)

F11 A412Vinsufficiently evaluated pathogenicunknown
F11 F442Vinsufficiently evaluated pathogenicunknown

(2 web hits)

F11 W569Sinsufficiently evaluated pathogenicunknown

(1 web hit)

F11 S576Rinsufficiently evaluated pathogenicunknown

(1 web hit)

F11R A51Pinsufficiently evaluated noneunknown
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Total results: 17

Gene search

"GENE" or "GENE A123C":

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