Gene: CYP17A1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894136
rs104894136
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.020 GeneticVariation BEFREE The last patient showed a 17α-hydroxylase/17,20-lyase deficiency as a result of a compound heterozygous mutation of the CYP17A1 gene leading to p.Pro35Thr(P35T) and p.Arg239Stop(R239X) in the P450c17 protein. 26845730

2016
dbSNP: rs104894136
rs104894136
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.020 GeneticVariation BEFREE Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. 1740503

1992
dbSNP: rs760695410
rs760695410
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.010 GeneticVariation BEFREE We detected a homozygous H373L mutation in a patient with combined 17α-hydroxylase/17,20-lyase deficiency. 22452398

2012
dbSNP: rs1269372676
rs1269372676
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.010 GeneticVariation BEFREE The novel mutations A82D, R125X, and C442R further clarify the patients' clinical manifestations of combined 17OHD. 21550081

2011
dbSNP: rs104894138
rs104894138
CYP17A1
0.010 GeneticVariation BEFREE We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients with this form of CAH. 21340163

2010
dbSNP: rs104894142
rs104894142
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.010 GeneticVariation BEFREE The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients. 21340157

2010
dbSNP: rs104894141
rs104894141
CYP17A1
0.010 GeneticVariation BEFREE A previous report presented a patient with 17 alpha-hydroxylase/17,20-lyase deficiency who was homozygous for W17X. 9435441

1998
dbSNP: rs104894137
rs104894137
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.010 GeneticVariation BEFREE Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. 1740503

1992
dbSNP: rs1250463562
rs1250463562
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.010 GeneticVariation BEFREE Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency. 1515452

1992