IGSF1 Chromosome X
Immunoglobulin superfamily member 1
Upload your DNA to see your personal genotypes for variants in IGSF1.
What This Gene Does
This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Immunoglobulin like domain containing
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000147255
Associated Conditions (5)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Key Variants
RS200514048
Conflicting classifications of pathogenicity
X-linked central congenital hypothyroidism with late-onset testicular enlargement, Inborn genetic diseases, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS745964986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772643100
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1293658262
Likely pathogenic
Health Risk
RS2522216875
Likely pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS2522246692
Likely pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS1220996970
Pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS1309588455
Pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS1556177186
Pathogenic
Health Risk
RS1556181091
Pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS1603404413
Pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
RS1603404421
Pathogenic
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200514048 | Health Risk | Conflicting classifications of pathogenicity | X-linked central congenital hypothyroidism with late-onset testicular enlargement, Inborn genetic diseases, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS745964986 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772643100 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1293658262 | Health Risk | Likely pathogenic | — |
| RS2522216875 | Health Risk | Likely pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS2522246692 | Health Risk | Likely pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS1220996970 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS1309588455 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS1556177186 | Health Risk | Pathogenic | — |
| RS1556181091 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS1603404413 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS1603404421 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS2080511514 | Health Risk | Pathogenic | Inborn genetic diseases, X-linked central congenital hypothyroidism with late-onset testicular enlargement, Inborn genetic diseases |
| RS2124076001 | Health Risk | Pathogenic | — |
| RS2124097454 | Health Risk | Pathogenic | — |
| RS2522193277 | Health Risk | Pathogenic | — |
| RS397514622 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS398122919 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS398122920 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS398122921 | Health Risk | Pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS777462101 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1603404297 | Health Risk | Pathogenic/Likely pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |