rs28934586
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
|
2022736 |
1991 |
rs28934586
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene.
|
8530633 |
1995 |
rs28934586
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.
|
20024693 |
2010 |
rs28934586
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We found the typical plasma steroid pattern of 11 beta-hydroxylase deficiency and identified the R448H mutation in the CYP11B1 gene in a boy presenting with pseudoprecocious puberty at age 2 yr.
|
9329393 |
1997 |
rs1206627543
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All of the identified mutations resulted in the classical form with severe virilization, except for the p.Gly446Ser mutation, which caused a late-onset type of 11β-hydroxylase deficiency.
|
26956189 |
2017 |
rs1245981952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compound heterozygous mutations (IVS7 + 1G > A and p.R141X) in the CYP11B1 gene were found to cause 11β-OHD.
|
27316665 |
2016 |
rs1311444460
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
|
2022736 |
1991 |
rs1348178413
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD.
|
28514642 |
2017 |
rs140336749
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11β-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively.
|
24022297 |
2014 |
rs1447069098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD.
|
28514642 |
2017 |
rs146124466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.
|
20331679 |
2010 |
rs149881706
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11β-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively.
|
24022297 |
2014 |
rs387907572
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity.
|
24022297 |
2014 |
rs387907573
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.
|
18663314 |
2008 |
rs387907574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity.
|
24022297 |
2014 |
rs5282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, CAH due to steroid 11β-hydroxylase deficiency can be attributed to both the novel deletion mutation (g.9525_9526delCT, corresponding to p.L380V…R420X) and known missense mutation (g.5194G>C corresponding to p.D63H) in CYP11B1.
|
26806323 |
2016 |
rs5282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, CAH due to steroid 11β-hydroxylase deficiency can be attributed to both the novel deletion mutation (g.9525_9526delCT, corresponding to p.L380V…R420X) and known missense mutation (g.5194G>C corresponding to p.D63H) in CYP11B1.
|
26806323 |
2016 |
rs568758408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity.
|
24022297 |
2014 |
rs61758594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, CAH due to steroid 11β-hydroxylase deficiency can be attributed to both the novel deletion mutation (g.9525_9526delCT, corresponding to p.L380V…R420X) and known missense mutation (g.5194G>C corresponding to p.D63H) in CYP11B1.
|
26806323 |
2016 |
rs775479837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compound heterozygous mutations (IVS7 + 1G > A and p.R141X) in the CYP11B1 gene were found to cause 11β-OHD.
|
27316665 |
2016 |