STAG1 Chromosome 3
STAG1 cohesin complex component
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What This Gene Does
This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cohesin complex|Armadillo like helical domain containing|STAG family"
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000118007
Associated Conditions (9)
Inborn genetic diseases
STAG1-related disorder
Intellectual disability
autosomal dominant 47
Congenital ocular coloboma
Neurodevelopmental disorder
Neurodevelopmental delay
Global developmental delay
See cases
Key Variants
RS1026553102
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1193212374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1268657053
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1471479119
Conflicting classifications of pathogenicity
STAG1-related disorder, Intellectual disability, autosomal dominant 47
Health Risk
RS147882530
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 47, Inborn genetic diseases
Health Risk
RS1939944359
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 47, Intellectual disability
Health Risk
RS199902670
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 47, STAG1-related disorder
Health Risk
RS201846240
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 47, Intellectual disability
Health Risk
RS2530452986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 47
Health Risk
RS370146152
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748993808
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 47, Intellectual disability
Health Risk
RS757065909
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1435519890 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 47, Intellectual disability |
| RS1553722294 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 47, STAG1-related disorder |
| RS1553722309 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 47, STAG1-related disorder |
| RS1559824939 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 47, Intellectual disability |
| RS2107814279 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |