Phenotypic Mutations

6 mutations affecting 5 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 6 of 6] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Mlkl 0.092 secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) 0.587 2019-09-04
Diantha La Vine
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to CpG + IFNg
A ⇒ G intron probably benign
2 UTSW Card11 0.000 unmodulated2 5 140872990-141000582 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (10;112), Autosomal Semidominant (5;51)
0.975 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T splice site probably null
3 UTSW Stat2 0.230 numb 10 128270559-128292849 bp (+) 128281065 Autosomal Recessive (2;11) 0.292 2019-09-04
Diantha La Vine
FACS CD44+ CD8 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
T ⇒ A splice site probably null
4 UTSW Trp53bp1 0.000 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
0.809 2019-09-04
Diantha La Vine
FACS IgD MFI - decreased
A ⇒ T splice site probably null
5 UTSW Siglecg 0.070 Montblanc 7 43408204-43418358 bp (+) 43411386 Autosomal Recessive (1;8)
Autosomal Semidominant (4;30)
0.557 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B2 cells - decreased
FACS IgM MFI - decreased
T ⇒ A intron probably benign
6 UTSW Mlkl 0.092 necro 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive (2;34) 0.505 2019-02-05
Diantha La Vine
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
T ⇒ C intron probably benign
[records 1 to 6 of 6]