RFT1 Chromosome 3
RFT1 glycolipid translocator homolog
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What This Gene Does
This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Solute carrier family 76
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000163933
Associated Conditions (4)
RFT1-congenital disorder of glycosylation
Inborn genetic diseases
RFT1-related disorder
Clear cell carcinoma of kidney
Key Variants
RS1046363034
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS113829901
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS140127085
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS141174358
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS1448297165
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS148576979
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS148716754
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS149266076
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS150391936
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS151322409
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
Health Risk
RS185366134
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, Inborn genetic diseases, RFT1-related disorder
Health Risk
RS192264403
Conflicting classifications of pathogenicity
RFT1-congenital disorder of glycosylation, RFT1-related disorder, RFT1-congenital disorder of glycosylation
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1046363034 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS113829901 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS140127085 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS141174358 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS1448297165 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS148576979 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS148716754 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS149266076 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS150391936 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS151322409 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS185366134 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, Inborn genetic diseases, RFT1-related disorder |
| RS192264403 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-related disorder, RFT1-congenital disorder of glycosylation |
| RS201794647 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, Inborn genetic diseases, RFT1-related disorder |
| RS369135875 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS372101755 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS571722733 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS748350251 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS750521781 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS753527390 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS781066087 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-related disorder, Clear cell carcinoma of kidney |
| RS891986217 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS954135080 | Health Risk | Conflicting classifications of pathogenicity | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS1575509263 | Health Risk | Likely pathogenic | — |
| RS1701662808 | Health Risk | Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS2107094933 | Health Risk | Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS2470953491 | Health Risk | Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS749968109 | Health Risk | Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS753344909 | Health Risk | Likely pathogenic | — |
| RS776522715 | Health Risk | Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS913477149 | Health Risk | Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS1575494302 | Health Risk | Pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS772820136 | Health Risk | Pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS796053521 | Health Risk | Pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS796053522 | Health Risk | Pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS118203913 | Health Risk | Pathogenic/Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS763862849 | Health Risk | Pathogenic/Likely pathogenic | RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |