SEPHS1 Chromosome 10
Selenophosphate synthetase 1
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What This Gene Does
This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]
Associated Conditions (3)
VERVERI-BRADY SYNDROME 2
SEPHS1-related developmental delay
SEPHS1-related disorder
Key Variants
RS1833029885
Conflicting classifications of pathogenicity
VERVERI-BRADY SYNDROME 2, SEPHS1-related developmental delay, SEPHS1-related disorder
Health Risk
RS2131679103
Likely pathogenic
VERVERI-BRADY SYNDROME 2, SEPHS1-related disorder, VERVERI-BRADY SYNDROME 2
Health Risk
RS2538687168
Pathogenic
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1833029885 | Health Risk | Conflicting classifications of pathogenicity | VERVERI-BRADY SYNDROME 2, SEPHS1-related developmental delay, SEPHS1-related disorder |
| RS2131679103 | Health Risk | Likely pathogenic | VERVERI-BRADY SYNDROME 2, SEPHS1-related disorder, VERVERI-BRADY SYNDROME 2 |
| RS2538687168 | Health Risk | Pathogenic | — |