Gene Mutations
 
Records Return:  (15) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
HPRT1308000300322Xq26-q27.2ARG167MET LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2ARG44LYS0020LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2ARG48HIS0060LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT2
HPRT1308000300322Xq26-q27.2ASP194HIS LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2ASP201ASN LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2EX1DEL LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2EX2-3DUP, IVS1DEL0047LESCH-NYHAN SYNDROME3
HPRT1308000300322Xq26-q27.2EX8DEL0005HPRT CONNERSVILLE1
HPRT1308000300322Xq26-q27.2EX9DEL0043LESCH-NYHAN SYNDROME2
HPRT1308000300322Xq26-q27.2GLU47GLY LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2GLY39GLU LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2HIS203ASP0019LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2IVS7DS, G-A, +50031LESCH-NYHAN SYNDROME2
HPRT1308000300322Xq26-q27.2MET144LYS; InsA423_2_433 LESCH-NYHAN SYNDROME1
HPRT1308000300322Xq26-q27.2VAL8GLY LESCH-NYHAN SYNDROME1