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CYP4V2

cytochrome P450 family 4 subfamily V member 2

HCNC Approved Symbol
CYP4V2 (HGNC:23198)
Genomic Coordinates
4:186,191,567 - 186,213,463 (4q35.1-q35.2)
Synonyms
CYP4AH1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

24Patients

In total, 24 patients were diagnosed with a variant in the CYP4V2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Retinitis pigmentosa
 4 (16.7%)
Vision issue
 4 (16.7%)
Night blindness
 
3 (12.5%)
Decreased visual acuity
 
2 (8.3%)
Retinal dystrophy
 
2 (8.3%)
CYP4V2 - Gene browser | 3billion