Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Congenital Adrenal Hyperplasia, due to 21-Hydroxylase

OMIM:201910
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolCYP21A2
DNA ChangeLarge conversion
A.A. Change
Exon/Intron
Mutation Typeothers
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.

Gene SymbolCYP21A2
DNA ChangeLarge lesions of the CYP21A2 gene
A.A. Change
Exon/Intron
Mutation Typeothers
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.

Gene SymbolCYP21A2
DNA ChangeIVS2-13A/C>G
A.A. Change
Exon/Intronintron 2
Mutation Typesubstitution
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.

Gene SymbolCYP21A2
Reference transcriptNM_000500.7
DNA Changec.952C>T
A.A. Changep.Gln318X
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.

Gene SymbolCYP21A2
Reference transcriptNM_000500.7
DNA Changec.515T>A
A.A. Changep.Ile172Asn
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.

Gene SymbolCYP21A2
Reference transcriptNM_000500.7
DNA Changec.1058T>G
A.A. Changep.L353R
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.

Gene SymbolCYP21A2
Reference transcriptNM_000500.7
DNA Changec.841G>T
A.A. Changep.V281L
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceAbid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Clin Chem Lab Med. 2008;46(12):1707-13.


  Variant not named according to HGVS recommendations