SMOC1 Chromosome 14
SPARC related modular calcium binding 1
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What This Gene Does
This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
SPARC family
Locus Type
gene with protein product
Location
14q24.1
Ensembl
ENSG00000198732
Associated Conditions (3)
SMOC1-related disorder
Microphthalmia with limb anomalies
Inborn genetic diseases
Key Variants
RS143606483
Conflicting classifications of pathogenicity
SMOC1-related disorder, SMOC1-related disorder
Health Risk
RS755468508
Conflicting classifications of pathogenicity
Health Risk
RS1326644602
Likely pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS1566709825
Likely pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS772178551
Likely pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS1114167455
Pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS1344296865
Pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS1365818420
Pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS1566709754
Pathogenic
Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
Health Risk
RS2503248407
Pathogenic
Health Risk
RS2503280308
Pathogenic
Health Risk
RS2503310309
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143606483 | Health Risk | Conflicting classifications of pathogenicity | SMOC1-related disorder, SMOC1-related disorder |
| RS755468508 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1326644602 | Health Risk | Likely pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS1566709825 | Health Risk | Likely pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS772178551 | Health Risk | Likely pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS1114167455 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS1344296865 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS1365818420 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS1566709754 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS2503248407 | Health Risk | Pathogenic | — |
| RS2503280308 | Health Risk | Pathogenic | — |
| RS2503310309 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS370866589 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS376672665 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS751356341 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |
| RS781216969 | Health Risk | Pathogenic | — |
| RS863223317 | Health Risk | Pathogenic | Microphthalmia with limb anomalies, Microphthalmia with limb anomalies |