SORL1 Chromosome 11
Sortilin related receptor 1
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What This Gene Does
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
11q24.1
Ensembl
ENSG00000137642
Associated Conditions (4)
Early-onset dementia of unclear type
Moyamoya angiopathy
Complex hereditary spastic paraplegia
Alzheimer disease 9
Key Variants
RS142884576
Conflicting classifications of pathogenicity
Health Risk
RS143877953
Conflicting classifications of pathogenicity
Health Risk
RS145218712
Conflicting classifications of pathogenicity
Health Risk
RS145806727
Conflicting classifications of pathogenicity
Health Risk
RS148532757
Conflicting classifications of pathogenicity
Health Risk
RS200748970
Conflicting classifications of pathogenicity
Health Risk
RS201304369
Conflicting classifications of pathogenicity
Health Risk
RS202115147
Conflicting classifications of pathogenicity
Health Risk
RS367605756
Conflicting classifications of pathogenicity
Health Risk
RS374782165
Conflicting classifications of pathogenicity
Health Risk
RS374928025
Conflicting classifications of pathogenicity
Health Risk
RS376265187
Conflicting classifications of pathogenicity
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142884576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143877953 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145218712 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145806727 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148532757 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200748970 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201304369 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202115147 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367605756 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374782165 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374928025 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376265187 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377550239 | Health Risk | Conflicting classifications of pathogenicity | Early-onset dementia of unclear type, Early-onset dementia of unclear type |
| RS534646732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537088660 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563358516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751110498 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763952078 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773321516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779578073 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2496871652 | Health Risk | Likely pathogenic | — |
| RS770704659 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS1050845490 | Health Risk | Pathogenic | — |
| RS1229933491 | Health Risk | Pathogenic | — |
| RS1343336951 | Health Risk | Pathogenic | — |
| RS1480691710 | Health Risk | Pathogenic | — |
| RS2134823550 | Health Risk | Pathogenic | — |
| RS2134823666 | Health Risk | Pathogenic | — |
| RS2134893308 | Health Risk | Pathogenic | — |
| RS2496816791 | Health Risk | Pathogenic | Complex hereditary spastic paraplegia, Complex hereditary spastic paraplegia |
| RS2496868089 | Health Risk | Pathogenic | — |
| RS2496909556 | Health Risk | Pathogenic | — |
| RS2496955412 | Health Risk | Pathogenic | — |
| RS758413354 | Health Risk | Pathogenic | — |
| RS2134858145 | Health Risk | risk factor | Alzheimer disease 9, Alzheimer disease 9 |