SLC35C1 Chromosome 11
Solute carrier family 35 member C1
Upload your DNA to see your personal genotypes for variants in SLC35C1.
What This Gene Does
This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Solute carrier family 35
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000181830
Associated Conditions (4)
Leukocyte adhesion deficiency type II
SLC35C1-related disorder
Intellectual disability
Inborn genetic diseases
Key Variants
RS111773874
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Leukocyte adhesion deficiency type II
Health Risk
RS141379070
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
Health Risk
RS145613857
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Intellectual disability
Health Risk
RS146971634
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II
Health Risk
RS148606857
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II
Health Risk
RS200202916
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II
Health Risk
RS369955835
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
Health Risk
RS371692301
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
Health Risk
RS567155861
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II
Health Risk
RS567642788
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Leukocyte adhesion deficiency type II
Health Risk
RS587777655
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Leukocyte adhesion deficiency type II
Health Risk
RS751828447
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111773874 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Leukocyte adhesion deficiency type II |
| RS141379070 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS145613857 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Intellectual disability |
| RS146971634 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II |
| RS148606857 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II |
| RS200202916 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II |
| RS369955835 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS371692301 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS567155861 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II |
| RS567642788 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Leukocyte adhesion deficiency type II |
| RS587777655 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, SLC35C1-related disorder, Leukocyte adhesion deficiency type II |
| RS751828447 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS751906696 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Inborn genetic diseases, Leukocyte adhesion deficiency type II |
| RS754930082 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS768517924 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS955606062 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS2134598287 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS28939087 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS1470970903 | Health Risk | Pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS2085872592 | Health Risk | Pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS2134598310 | Health Risk | Pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS28937886 | Health Risk | Pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS398124345 | Health Risk | Pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |
| RS766512058 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II |