SNIP1 Chromosome 1
Smad nuclear interacting protein 1
Upload your DNA to see your personal genotypes for variants in SNIP1.
What This Gene Does
This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Spliceosomal P complex
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000163877
Associated Conditions (4)
Psychomotor retardation
epilepsy
and craniofacial dysmorphism
SNIP1-related disorder
Key Variants
RS186332019
Conflicting classifications of pathogenicity
Health Risk
RS200160575
Conflicting classifications of pathogenicity
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Health Risk
RS387906986
Conflicting classifications of pathogenicity
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Health Risk
RS61745973
Conflicting classifications of pathogenicity
SNIP1-related disorder, SNIP1-related disorder
Health Risk
RS752770000
Conflicting classifications of pathogenicity
Health Risk
RS765154628
Conflicting classifications of pathogenicity
Health Risk
RS866874156
Conflicting classifications of pathogenicity
Health Risk
RS950749390
Conflicting classifications of pathogenicity
Health Risk
RS2522349649
Likely pathogenic
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186332019 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200160575 | Health Risk | Conflicting classifications of pathogenicity | Psychomotor retardation, epilepsy, and craniofacial dysmorphism |
| RS387906986 | Health Risk | Conflicting classifications of pathogenicity | Psychomotor retardation, epilepsy, and craniofacial dysmorphism |
| RS61745973 | Health Risk | Conflicting classifications of pathogenicity | SNIP1-related disorder, SNIP1-related disorder |
| RS752770000 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765154628 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS866874156 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS950749390 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2522349649 | Health Risk | Likely pathogenic | Psychomotor retardation, epilepsy, and craniofacial dysmorphism |