Properties

MORBIDMAP :NAME MM: Dyskeratosis congenita, autosomal dominant 3 :MORBID_ID 613990 :NUM 3 :SYM (TINF2 TIN2 DKCA3) :LOCUS 14q12 :OMIM_ID 604319 :SNP DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; TINF2, LYS280GLU; rs121918543 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; TINF2, ARG282HIS; rs121918544 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; TINF2, ARG282SER; rs121918545 :AAUSHI DYSKERATOSIS_CONGENITA :AAUSHIGENE TERF1_INTERACTING_NUCLEAR_FACTOR_2