Properties

MORBIDMAP :NAME MM: Treacher Collins syndrome 1 :MORBID_ID 154500 :NUM 3 :SYM (TCOF1 MFD1 TCS1) :LOCUS 5q32 :OMIM_ID 606847 :SNP TREACHER COLLINS SYNDROME; TCOF1, GLN252TER; rs119470016 TREACHER COLLINS SYNDROME; TCOF1, TYR50CYS; rs28941769 TREACHER COLLINS SYNDROME; TCOF1, ARG911TER; rs119470017 :AAUSHI TREACHER_COLLINS_SYNDROME :AAUSHIGENE TREACLE_PROTEIN