Phenotypic Mutations

506 mutations affecting 266 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
501 UTSW Ticam1 Yue 17 56269319-56276786 bp (-) 56271339 Autosomal Dominant  TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
502 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Autosomal Recessive  pigmentation
skin/coat/nails
503 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Autosomal Recessive  cardiovascular system
decrease in NK cells
hematopoietic system
life span-post-weaning/aging
504 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Autosomal Recessive  immune system
limbs/digits/tail phenotype
skeleton phenotype
505 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Autosomal Recessive  embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
506 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Autosomal Recessive  pigmentation
skin/coat/nails
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