SASH3 Chromosome X
SAM and SH3 domain containing 3
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What This Gene Does
The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"SAM and SH3 domain containing|Sterile alpha motif domain containing"
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000122122
Associated Conditions (1)
Immunodeficiency 102
Key Variants
RS2124082775
Likely pathogenic
Immunodeficiency 102, Immunodeficiency 102
Health Risk
RS1382441067
Pathogenic
Immunodeficiency 102, Immunodeficiency 102
Health Risk
RS2124083267
Pathogenic
Immunodeficiency 102, Immunodeficiency 102
Health Risk
RS2124084444
Pathogenic
Immunodeficiency 102, Immunodeficiency 102
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2124082775 | Health Risk | Likely pathogenic | Immunodeficiency 102, Immunodeficiency 102 |
| RS1382441067 | Health Risk | Pathogenic | Immunodeficiency 102, Immunodeficiency 102 |
| RS2124083267 | Health Risk | Pathogenic | Immunodeficiency 102, Immunodeficiency 102 |
| RS2124084444 | Health Risk | Pathogenic | Immunodeficiency 102, Immunodeficiency 102 |