FZD5 Chromosome 2
Frizzled class receptor 5
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What This Gene Does
Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
G protein-coupled receptors, Class F frizzled
Locus Type
gene with protein product
Location
2q33.3
Ensembl
ENSG00000163251
Associated Conditions (3)
Congenital ocular coloboma
Inborn genetic diseases
Microphthalmia/coloboma 11
Key Variants
RS2091988799
Conflicting classifications of pathogenicity
Congenital ocular coloboma, Congenital ocular coloboma
Health Risk
RS776562411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2091986259
Likely pathogenic
Congenital ocular coloboma, Microphthalmia/coloboma 11, Congenital ocular coloboma
Health Risk
RS2091987023
Likely pathogenic
Congenital ocular coloboma, Congenital ocular coloboma
Health Risk
RS2470337831
Pathogenic
Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
Health Risk
RS2470337909
Pathogenic
Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
Health Risk
RS2470339052
Pathogenic
Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
Health Risk
RS2470339440
Pathogenic
Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
Health Risk
RS750162817
Pathogenic
Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2091988799 | Health Risk | Conflicting classifications of pathogenicity | Congenital ocular coloboma, Congenital ocular coloboma |
| RS776562411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2091986259 | Health Risk | Likely pathogenic | Congenital ocular coloboma, Microphthalmia/coloboma 11, Congenital ocular coloboma |
| RS2091987023 | Health Risk | Likely pathogenic | Congenital ocular coloboma, Congenital ocular coloboma |
| RS2470337831 | Health Risk | Pathogenic | Microphthalmia/coloboma 11, Microphthalmia/coloboma 11 |
| RS2470337909 | Health Risk | Pathogenic | Microphthalmia/coloboma 11, Microphthalmia/coloboma 11 |
| RS2470339052 | Health Risk | Pathogenic | Microphthalmia/coloboma 11, Microphthalmia/coloboma 11 |
| RS2470339440 | Health Risk | Pathogenic | Microphthalmia/coloboma 11, Microphthalmia/coloboma 11 |
| RS750162817 | Health Risk | Pathogenic | Microphthalmia/coloboma 11, Microphthalmia/coloboma 11 |