|
rs193922538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922539
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922540
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922541
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs61752786
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886038207
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs6475
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene.
|
31217034 |
2019 |
|
rs6475
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
|
31026224 |
2019 |
|
rs6475
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.
|
1937474 |
1991 |
|
rs9378251
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
|
31026224 |
2019 |
|
rs7755898
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*)</span>, formerly Q318X, rs7755898) variant of the CYP21A2 gene.
|
28401898 |
2017 |
|
rs1312209092
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Congenital adrenal hyperplasia (CAH).
|
24953648 |
2015 |
|
rs7755898
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congenital adrenal hyperplasia (CAH, Q318X mutation without duplicated functional gene) allele is of importance, particularly for prenatal diagnosis and the respective genetic counseling.
|
19773403 |
2009 |
|
rs1312209092
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional and structural consequences of seven novel mutations, V139E, C147R, R233G, T295N, L308F, R366C, and M473I, detected in Scandinavian patients with suspected congenital adrenal hyperplasia of different severity, were predicted using molecular modeling.
|
16788163 |
2006 |
|
rs9378251
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
|
12887291 |
2003 |
|
rs773865367
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient and two of her siblings were found to carry compound heterozygous mutations (C183Y and T390R) in CYP17A1 and were eventually diagnosed with atypical congenital adrenal hyperplasia.
|
31388123 |
2019 |
|
rs5282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
|
26806323 |
2016 |
|
rs61758594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
|
26806323 |
2016 |
|
rs1245238711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
|
25319875 |
2015 |
|
rs1268081568
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
|
25319875 |
2015 |
|
rs1351141519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation.
|
26079780 |
2015 |
|
rs72552755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Congenital adrenal hyperplasia (CAH).
|
24953648 |
2015 |
|
rs756607591
|
|
|
0.010 |
GeneticVariation |
BEFREE |
3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation.
|
26079780 |
2015 |
|
rs758658540
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Congenital adrenal hyperplasia (CAH).
|
24953648 |
2015 |
|
rs121912976
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Congenital adrenal hyperplasia was ruled out and molecular analysis of POR gene showed the missense mutation p.Gly539Arg in compound heterozygosity located at splice acceptor site of intron 2 and the coding variant p.Gly80Arg.
|
23878291 |
2013 |