Phenotypic Mutations

3 mutations affecting 3 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 3 of 3] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Irf1 0.000 Endeka2 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (5;56)
Autosomal Semidominant (15;69)
0.883 2021-02-25
External Program
FACS B1 cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
C ⇒ G missense probably damaging 1.000
2 UTSW Mlkl 0.089 mecro 8 111311797-111338177 bp (-) 111319716 Autosomal Recessive (2;18) 0.905 2019-09-04
Diantha La Vine
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
C ⇒ G critical splice donor site probably null
3 UTSW Elmo1 0.000 sesame 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
Autosomal Recessive (4;16)
0.976 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ G nonsense probably null
[records 1 to 3 of 3]