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

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset

OMIM:231300
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa


Mutations

Gene SymbolCYP1B1
Reference transcriptNT_004487.19
DNA Changeg.7901_7913del13bp
A.A. ChangeFrameshift
Exon/Intron3' of the stop codon
Mutation Typedeletion
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNT_004487.19
DNA Changeg.4430_4431delTG
A.A. Changep.C209fsX222
Exon/Intron3' of the stop codon
Mutation Typedeletion
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNT_004487.19
DNA Changeg.4339delG
A.A. ChangeFrameshift followed by stop codons at position 17
Exon/Intronexon 3
Mutation Typedeletion
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.182G>A
A.A. Changep.Gly61Glu
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.487C>T
A.A. Changep.Arg163Cys
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.517G>A
A.A. Changep.Glu173Lys
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.1090G>A
A.A. Changep.Val364Met
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.1103G>A
A.A. Changep.Arg368His
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.1168C>A
A.A. Changep.Arg390Ser
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.1405C>T
A.A. Changep.Arg469Trp
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.

Gene SymbolCYP1B1
Reference transcriptNM_000104.3
DNA Changec.1409G>A
A.A. Changep.Cys470Tyr
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceHilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Mol Vis. 2010 Jul 2;16:1215-26.