IGSF3 Chromosome 1
Immunoglobulin superfamily member 3
Upload your DNA to see your personal genotypes for variants in IGSF3.
What This Gene Does
The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
V-set domain containing
Locus Type
gene with protein product
Location
1p13.1
Ensembl
ENSG00000143061
Associated Conditions (1)
Familial congenital nasolacrimal duct obstruction
Key Variants
RS766373978
Likely pathogenic
Health Risk
RS724160030
Pathogenic
Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction
Health Risk
RS61730489
Pathogenic/Likely pathogenic
Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766373978 | Health Risk | Likely pathogenic | — |
| RS724160030 | Health Risk | Pathogenic | Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction |
| RS61730489 | Health Risk | Pathogenic/Likely pathogenic | Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction |