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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]

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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

Last update

21/6/2017

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

OMIM: 231300
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

CYP1B1 || g.4339delG

Gene/Locus:	CYP1B1
Dna Change:	g.4339delG
Protein Change:
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 2
Transcript:	NM_000104.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	NA	9 patients/32 patients	between 900 and 1700 years	Belmouden A et al., 2002Belmouden A, Melki R, Hamdani M, Zaghloul K, Amraoui A, Nadifi S, Akhayat O, Garchon HJ, . A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.. Clin. Genet.. 2002; 62(4):334-9

References

Belmouden A, Melki R, Hamdani M, Zaghloul K, Amraoui A, Nadifi S, Akhayat O, Garchon HJ, A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.Clin. Genet.. 2002; 62(4):334-9

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

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

References