RS1057517732 EP300

Health Risk Chr 22:41176250
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What This Variant Does
"CLNSIG=5
Associated Conditions
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Multiple congenital anomalies
Inborn genetic diseases
EP300-related disorder
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Multiple congenital anomalies
Inborn genetic diseases
EP300-related disorder
Colorectal cancer
Other Variants in EP300
rs137853038 rs28937578 rs137853039 rs1569108381 rs1569122847 rs1569090642 rs201054979 rs587778255 rs149456776 rs886037664
Ask Dr. Hemsworth about this variant