GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MBL2 M1Tinsufficiently evaluated not reviewed, f=0.000unknown

(26 web hits)

CGI sample GS00253-DNA_B02_200_37
MBL2 R52Cuncertain pathogenic, f=0.049recessive

This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).

(77 web hits)

CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS06985-1100-36-ASM
MBL2 G54Duncertain pathogenic, f=0.104recessive

This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).

(77 web hits)

var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19648-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
MBL2 G57Einsufficiently evaluated pathogenic, f=0.092recessive

This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. The wild-type version of this gene is known as variant allele A, while this is called variant allele C. See R52C (variant D) and G54D (variant B).

(77 web hits)

var-GS19020-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
MBL2 E210Xinsufficiently evaluated none, f=0.002unknown var-GS18504-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
Total results: 5

Gene search

"GENE" or "GENE A123C":

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