FOLR1 Chromosome 11

Folate receptor alpha
41 variants 41 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
Associated Conditions (11)
Cerebral folate transport deficiency
Inborn genetic diseases
FOLR1-related disorder
Seizure
Lung cancer
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Epileptic encephalopathy
Key Variants
RS1131691637
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
Health Risk
RS139633601
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, FOLR1-related disorder
Health Risk
RS143413500
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
Health Risk
RS144637717
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Seizure, Inborn genetic diseases
Health Risk
RS145380453
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
Health Risk
RS147155003
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
Health Risk
RS148345688
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, FOLR1-related disorder
Health Risk
RS149216939
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
Health Risk
RS1948231142
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Cerebral folate transport deficiency
Health Risk
RS371565364
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, Thyroid cancer
Health Risk
RS375060832
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Cerebral folate transport deficiency
Health Risk
RS375444839
Conflicting classifications of pathogenicity
Cerebral folate transport deficiency, Inborn genetic diseases, FOLR1-related disorder
Health Risk
All Variants (41)
RSID Category Clinical Significance Conditions
RS1131691637 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS139633601 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, FOLR1-related disorder
RS143413500 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS144637717 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Seizure, Inborn genetic diseases
RS145380453 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS147155003 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS148345688 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, FOLR1-related disorder
RS149216939 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS1948231142 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS371565364 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Thyroid cancer
RS375060832 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS375444839 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, FOLR1-related disorder
RS398124307 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS531930335 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS564331848 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS755278391 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases, Cerebral folate transport deficiency
RS769589754 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS886042924 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS1012740056 Health Risk Likely pathogenic —
RS1057518027 Health Risk Likely pathogenic —
RS1057518816 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057524829 Health Risk Likely pathogenic —
RS1165021874 Health Risk Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS369395654 Health Risk Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS757554598 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS952165627 Health Risk Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS121918405 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS121918406 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS121918843 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS145674759 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS1555068629 Health Risk Pathogenic —
RS1555069069 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS1591246507 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS1948212796 Health Risk Pathogenic —
RS2135388308 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS2135388735 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS2135389163 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS2539131119 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS753776182 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS767252235 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS752503322 Health Risk Pathogenic/Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
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