SBF2 Chromosome 11
SET binding factor 2
Upload your DNA to see your personal genotypes for variants in SBF2.
What This Gene Does
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DENN domain containing|Pleckstrin homology domain containing|Myotubularins"
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000133812
Associated Conditions (8)
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Tip-toe gait
SBF2-related disorder
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Key Variants
RS1057524041
Conflicting classifications of pathogenicity
Health Risk
RS1060503800
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS1242027664
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS1331366931
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS139217120
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS139522696
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases
Health Risk
RS139967004
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases
Health Risk
RS141108330
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease
Health Risk
RS141330687
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease
Health Risk
RS141368249
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS141894081
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS142261202
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1433023728 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554977189 | Health Risk | Pathogenic | — |
| RS1554990103 | Health Risk | Pathogenic | — |
| RS1564849558 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1564923441 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1565115957 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1590076969 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS1590797444 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1808624700 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1852575488 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS1853957938 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1853958093 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1949709115 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2134006623 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS2494599240 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494735922 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494800093 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494902317 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2495918382 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496157537 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496189670 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496366381 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS762408471 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS774667470 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS776306054 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS879253988 | Health Risk | Pathogenic | — |
| RS890667586 | Health Risk | Pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS1064793771 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, SBF2-related disorder, Charcot-Marie-Tooth disease type 4 |
| RS113702075 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS1565106242 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS1565150234 | Health Risk | Pathogenic/Likely pathogenic | — |