present in Gene: CYP1B1
present in Chromosome: 2
Position on Chromosome: 38071279
Alleles of this Variant: CTGCCTGCACTCG/-
rs1064792896 in
CYP1B1 gene and
ANTERIOR SEGMENT DYSGENESIS 5
PMID 9097971 1997 Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
rs1064792896 in
CYP1B1 gene and
GLAUCOMA 3, PRIMARY CONGENITAL, A
PMID 9097971 1997 Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.