CRLF1 Chromosome 19
Cytokine receptor like factor 1
Upload your DNA to see your personal genotypes for variants in CRLF1.
What This Gene Does
This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
19p12
Ensembl
ENSG00000006016
Associated Conditions (6)
Inborn genetic diseases
Cold-induced sweating syndrome 1
Cold-induced sweating syndrome
Crisponi/Cold-induced sweating syndrome
CRLF1-related disorder
Cone-rod dystrophy 12
Key Variants
RS146027258
Conflicting classifications of pathogenicity
Health Risk
RS150710034
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199625640
Conflicting classifications of pathogenicity
Health Risk
RS751257411
Conflicting classifications of pathogenicity
Health Risk
RS137853933
Likely pathogenic
Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
Health Risk
RS1420771120
Likely pathogenic
Health Risk
RS2145339928
Likely pathogenic
Cold-induced sweating syndrome, Cold-induced sweating syndrome
Health Risk
RS2513391100
Likely pathogenic
Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
Health Risk
RS2513397377
Likely pathogenic
Cold-induced sweating syndrome, Cold-induced sweating syndrome
Health Risk
RS2513397402
Likely pathogenic
Cold-induced sweating syndrome, Cold-induced sweating syndrome
Health Risk
RS745392621
Likely pathogenic
Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
Health Risk
RS1199919814
Pathogenic
Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146027258 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150710034 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199625640 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751257411 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137853933 | Health Risk | Likely pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1420771120 | Health Risk | Likely pathogenic | — |
| RS2145339928 | Health Risk | Likely pathogenic | Cold-induced sweating syndrome, Cold-induced sweating syndrome |
| RS2513391100 | Health Risk | Likely pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS2513397377 | Health Risk | Likely pathogenic | Cold-induced sweating syndrome, Cold-induced sweating syndrome |
| RS2513397402 | Health Risk | Likely pathogenic | Cold-induced sweating syndrome, Cold-induced sweating syndrome |
| RS745392621 | Health Risk | Likely pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1199919814 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS137853143 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS137853144 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS137853145 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS137853928 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS137853929 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome, Cold-induced sweating syndrome 1 |
| RS1555758035 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1600650861 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1600651228 | Health Risk | Pathogenic | Crisponi/Cold-induced sweating syndrome, Crisponi/Cold-induced sweating syndrome |
| RS1976145478 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS1976175724 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS2145329741 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS367543004 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS761746361 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1 |
| RS768727082 | Health Risk | Pathogenic | Cold-induced sweating syndrome 1, Inborn genetic diseases, CRLF1-related disorder |
| RS886041972 | Health Risk | Pathogenic | — |
| RS137853932 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 12, Cold-induced sweating syndrome 1, Cone-rod dystrophy 12 |