Gene Mutations
 
Records Return:  (6) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
TYR60693320310011q14-q211-BP INS, T, CODON 389 ALBINISM, OCULOCUTANEOUS, TYPE IA1
TYR60693320310011q14-q21ARG217TRP0025ALBINISM, OCULOCUTANEOUS, TYPE IA1
TYR60693320310011q14-q21ASN382LYS0016ALBINISM, OCULOCUTANEOUS, TYPE IA1
TYR60693320310011q14-q21ASP365ASN0004ALBINISM, OCULOCUTANEOUS, TYPE IA1
TYR60693320310011q14-q21PRO81LEU0002ALBINISM, OCULOCUTANEOUS, TYPE IA2
TYR60693320310011q14-q21THR373LYS ALBINISM, OCULOCUTANEOUS, TYPE IA1