RS80338756 PLEC

Health Risk Chr 8:143924012
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What This Variant Does
"[OMIM:?]
Associated Conditions
Epidermolysis bullosa simplex
Ogna type
Simplex epidermolysis bullosa_Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C
with pyloric atresia
Epidermolysis bullosa simplex 5B
with muscular dystrophy
Epidermolysis bullosa simplex
Ogna type
Simplex epidermolysis bullosa_Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C
Other Variants in PLEC
rs786205251 rs786205252 rs786205253 rs786205254 rs864309671 rs137853160 rs864309672 rs137853161 rs864309673 rs864309674
Ask Dr. Hemsworth about this variant