SEMA6B Chromosome 19
Semaphorin 6B
Upload your DNA to see your personal genotypes for variants in SEMA6B.
What This Gene Does
This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Semaphorins
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000167680
Associated Conditions (14)
SEMA6B-related disorder
Retinal dystrophy
Optic atrophy
Gastric cancer
Malignant tumor of esophagus
Hepatocellular carcinoma
Familial cancer of breast
Epilepsy
progressive myoclonic
11
Inborn genetic diseases
Intellectual disability
See cases
Epilepsy with myoclonic atonic seizures
Key Variants
RS142864702
Conflicting classifications of pathogenicity
SEMA6B-related disorder, Retinal dystrophy, Optic atrophy
Health Risk
RS1977089420
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 11
Health Risk
RS2145342438
Conflicting classifications of pathogenicity
Intellectual disability, Epilepsy, progressive myoclonic
Health Risk
RS373413237
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS1418798663
Likely pathogenic
Epilepsy, progressive myoclonic, 11
Health Risk
RS1490417837
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1977101756
Likely pathogenic
Health Risk
RS2145342338
Likely pathogenic
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
Health Risk
RS2145342359
Likely pathogenic
Health Risk
RS2145347825
Likely pathogenic
Epilepsy, progressive myoclonic, 11
Health Risk
RS2512183344
Likely pathogenic
Epilepsy, progressive myoclonic, 11
Health Risk
RS928628454
Likely pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142864702 | Health Risk | Conflicting classifications of pathogenicity | SEMA6B-related disorder, Retinal dystrophy, Optic atrophy |
| RS1977089420 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 11 |
| RS2145342438 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Epilepsy, progressive myoclonic |
| RS373413237 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS1418798663 | Health Risk | Likely pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS1490417837 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1977101756 | Health Risk | Likely pathogenic | — |
| RS2145342338 | Health Risk | Likely pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2145342359 | Health Risk | Likely pathogenic | — |
| RS2145347825 | Health Risk | Likely pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS2512183344 | Health Risk | Likely pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS928628454 | Health Risk | Likely pathogenic | — |
| RS1977105425 | Health Risk | Pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS1977106116 | Health Risk | Pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS2145342677 | Health Risk | Pathogenic | — |
| RS2145342741 | Health Risk | Pathogenic | — |
| RS2512182702 | Health Risk | Pathogenic | — |
| RS2512182790 | Health Risk | Pathogenic | — |
| RS2512182831 | Health Risk | Pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS747115338 | Health Risk | Pathogenic | See cases, See cases |
| RS1443687532 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, progressive myoclonic, 11 |
| RS2512182865 | Health Risk | Pathogenic/Likely pathogenic | — |