CRLF1 (cytokine receptor like factor 1) - Rat Genome Database

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Gene: CRLF1 (cytokine receptor like factor 1) Homo sapiens
Analyze
Symbol: CRLF1
Name: cytokine receptor like factor 1
RGD ID: 1322794
HGNC Page HGNC:2364
Description: Enables cytokine binding activity. Contributes to ciliary neurotrophic factor receptor binding activity and cytokine activity. Involved in cell surface receptor signaling pathway via STAT; negative regulation of neuron apoptotic process; and positive regulation of cell population proliferation. Part of CRLF-CLCF1 complex. Implicated in cold-induced sweating syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CISS; CISS1; class I cytokine receptor; CLF; CLF-1; cytokine receptor-like factor 1; cytokine type 1 receptor CRLP-1; cytokine-like factor 1; NR6; zcytor5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,593,237 - 18,606,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,572,220 - 18,607,741 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,704,047 - 18,717,609 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,565,047 - 18,578,660 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,565,046 - 18,578,660NCBI
Celera1918,606,237 - 18,619,858 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,266,624 - 18,309,213 (-)NCBIHuRef
CHM1_11918,704,266 - 18,717,662 (-)NCBICHM1_1
T2T-CHM13v2.01918,728,303 - 18,741,874 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
Cuprizon  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
DDE  (EXP)
diazinon  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
fentanyl  (ISO)
folic acid  (ISO)
fucoxanthin  (ISO)
furan  (ISO)
glucose  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
maneb  (ISO)
methimazole  (ISO)
methylmercury chloride  (ISO)
miconazole  (ISO)
niclosamide  (EXP)
ochratoxin A  (EXP)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctanoic acid  (EXP)
progesterone  (EXP,ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Knappskog PM, etal., Am J Hum Genet. 2003 Feb;72(2):375-83. Epub 2002 Dec 31.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9686600   PMID:10966616   PMID:12477932   PMID:12975309   PMID:15034937   PMID:15340161   PMID:15489334   PMID:17436251   PMID:17436252   PMID:18029348   PMID:19921088   PMID:19933857  
PMID:21326283   PMID:21370513   PMID:21873635   PMID:22429962   PMID:22632162   PMID:22658674   PMID:23818941   PMID:24008591   PMID:24488861   PMID:26804344   PMID:26858303   PMID:27976805  
PMID:28514442   PMID:29515111   PMID:31497877   PMID:32982961   PMID:33910095   PMID:33961781   PMID:35055176   PMID:35696571   PMID:35699517   PMID:35984556   PMID:36724073   PMID:37689310  
PMID:37910254   PMID:38262564   PMID:39116531   PMID:39256356  


Genomics

Comparative Map Data
CRLF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,593,237 - 18,606,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,572,220 - 18,607,741 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,704,047 - 18,717,609 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,565,047 - 18,578,660 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,565,046 - 18,578,660NCBI
Celera1918,606,237 - 18,619,858 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,266,624 - 18,309,213 (-)NCBIHuRef
CHM1_11918,704,266 - 18,717,662 (-)NCBICHM1_1
T2T-CHM13v2.01918,728,303 - 18,741,874 (-)NCBIT2T-CHM13v2.0
Crlf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,945,798 - 70,956,728 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl870,945,808 - 70,956,731 (+)EnsemblGRCm39 Ensembl
GRCm38870,493,097 - 70,504,078 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,493,158 - 70,504,081 (+)EnsemblGRCm38mm10GRCm38
MGSCv37873,017,055 - 73,027,980 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,422,145 - 73,433,070 (+)NCBIMGSCv36mm8
Celera873,049,567 - 73,060,492 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Crlf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81618,958,695 - 18,970,026 (-)NCBIGRCr8
mRatBN7.21618,924,722 - 18,936,049 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1618,924,722 - 18,935,997 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1618,966,510 - 18,977,787 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01620,099,327 - 20,110,590 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01619,019,472 - 19,030,749 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01620,675,042 - 20,686,365 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1620,675,042 - 20,686,317 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01620,530,521 - 20,541,831 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,431,472 - 19,442,747 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11619,431,472 - 19,442,745 (-)NCBI
Celera1619,116,098 - 19,127,373 (-)NCBICelera
Cytogenetic Map16p14NCBI
Crlf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555242,998,260 - 3,003,283 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555242,998,258 - 3,003,553 (+)NCBIChiLan1.0ChiLan1.0
CRLF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22023,452,262 - 23,465,525 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11922,460,674 - 22,473,911 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01918,070,465 - 18,083,701 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11919,040,355 - 19,048,927 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1919,040,682 - 19,046,584 (-)Ensemblpanpan1.1panPan2
CRLF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,466,812 - 44,476,055 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2044,466,810 - 44,472,637 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,376,895 - 44,389,992 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02044,948,405 - 44,961,499 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2044,948,246 - 44,958,835 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12044,185,771 - 44,198,860 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,595,729 - 44,608,819 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02044,871,168 - 44,884,262 (+)NCBIUU_Cfam_GSD_1.0
Crlf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,147,220 - 203,153,304 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,693,881 - 2,702,131 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365962,693,881 - 2,702,443 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRLF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl259,222,367 - 59,233,720 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1259,222,551 - 59,233,723 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,069,084 - 59,075,048 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CRLF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,061,289 - 17,074,930 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl617,061,621 - 17,074,794 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660742,261,781 - 2,275,479 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Crlf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249081,752,779 - 1,762,244 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249081,752,773 - 1,762,272 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRLF1
138 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004750.5(CRLF1):c.736G>A (p.Val246Ile) single nucleotide variant not provided [RCV001507429] Chr19:18597011 [GRCh38]
Chr19:18707821 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.676dup (p.Thr226fs) duplication Cold-induced sweating syndrome 1 [RCV000006061] Chr19:18598452..18598453 [GRCh38]
Chr19:18709262..18709263 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.527+5G>A single nucleotide variant Cold-induced sweating syndrome 1 [RCV000006063] Chr19:18598767 [GRCh38]
Chr19:18709577 [GRCh37]
Chr19:19p13.11		 pathogenic
CRLF1, 1-BP DUP, 713C duplication Cold-induced sweating syndrome 1 [RCV000006064] Chr19:19p12 pathogenic
NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs) indel Cold-induced sweating syndrome 1 [RCV000006066] Chr19:18597038..18597039 [GRCh38]
Chr19:18707848..18707849 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.4(CRLF1):c.844_845delGT (p.Val282Glyfs) deletion Cold-induced sweating syndrome 1 [RCV000006059] Chr19:18596902..18596903 [GRCh38]
Chr19:18707712..18707713 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000006062] Chr19:18599736 [GRCh38]
Chr19:18710546 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000006065] Chr19:18594357 [GRCh38]
Chr19:18705167 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000006067] Chr19:18596918 [GRCh38]
Chr19:18707728 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.857_864del (p.Val286fs) deletion Cold-induced sweating syndrome 1 [RCV000020063] Chr19:18596782..18596789 [GRCh38]
Chr19:18707592..18707599 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000020613] Chr19:18594338 [GRCh38]
Chr19:18705148 [GRCh37]
Chr19:19p13.11		 pathogenic|not provided
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000020614]|not specified [RCV001731325] Chr19:18599720 [GRCh38]
Chr19:18710530 [GRCh37]
Chr19:19p13.11		 pathogenic|benign|uncertain significance|not provided
NM_004750.5(CRLF1):c.303del (p.Asn102fs) deletion Cold-induced sweating syndrome 1 [RCV000020615] Chr19:18599659 [GRCh38]
Chr19:18710469 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.31_53del (p.Gln11fs) deletion Cold-induced sweating syndrome 1 [RCV001780581]|Cold-induced sweating syndrome [RCV003323930] Chr19:18606604..18606626 [GRCh38]
Chr19:18717414..18717436 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.397+1G>A single nucleotide variant Cold-induced sweating syndrome 1 [RCV003988099]|Cone-rod dystrophy 12 [RCV003236599]|not provided [RCV003231876] Chr19:18599564 [GRCh38]
Chr19:18710374 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_004750.5(CRLF1):c.413C>T (p.Pro138Leu) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000020618] Chr19:18598886 [GRCh38]
Chr19:18709696 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.538C>T (p.Gln180Ter) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000020619] Chr19:18598591 [GRCh38]
Chr19:18709401 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.4(CRLF1):c.73_75delCTG (p.Leu26del) deletion Cold-induced sweating syndrome 1 [RCV000020620] Chr19:18606582..18606584 [GRCh38]
Chr19:18717392..18717394 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.852G>T (p.Trp284Cys) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000020621] Chr19:18596895 [GRCh38]
Chr19:18707705 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.935G>A (p.Arg312His) single nucleotide variant Cold-induced sweating syndrome 1 [RCV000020622] Chr19:18596711 [GRCh38]
Chr19:18707521 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.4(CRLF1):c.116-1042G>A single nucleotide variant Lung cancer [RCV000101070] Chr19:18600888 [GRCh38]
Chr19:18711698 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.11(chr19:18424057-18685221)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053947]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053947]|See cases [RCV000053947] Chr19:18424057..18685221 [GRCh38]
Chr19:18534867..18796031 [GRCh37]
Chr19:18395867..18657031 [NCBI36]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.76C>G (p.Leu26Val) single nucleotide variant not provided [RCV001507430] Chr19:18606581 [GRCh38]
Chr19:18717391 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) duplication CRLF1-related disorder [RCV004758669]|Cold-induced sweating syndrome 1 [RCV000195773]|Inborn genetic diseases [RCV004020477]|not provided [RCV002515469] Chr19:18597033..18597034 [GRCh38]
Chr19:18707843..18707844 [GRCh37]
Chr19:19p13.11		 pathogenic|likely pathogenic
NM_004750.5(CRLF1):c.66GCT[3] (p.Leu26del) microsatellite not provided [RCV000949059]|not specified [RCV000729479] Chr19:18606580..18606582 [GRCh38]
Chr19:18717390..18717392 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.845_846del (p.Val282fs) microsatellite Cold-induced sweating syndrome 1 [RCV000210224] Chr19:18596901..18596902 [GRCh38]
Chr19:18707711..18707712 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.322C>T (p.Gln108Ter) single nucleotide variant not provided [RCV000368579] Chr19:18599640 [GRCh38]
Chr19:18710450 [GRCh37]
Chr19:19p13.11		 pathogenic
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu) single nucleotide variant Cold-induced sweating syndrome 1 [RCV001268950] Chr19:18596711 [GRCh38]
Chr19:18707521 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) single nucleotide variant Cold-induced sweating syndrome 1 [RCV001268951] Chr19:18598598 [GRCh38]
Chr19:18709408 [GRCh37]
Chr19:19p13.11		 pathogenic
GRCh37/hg19 19p13.11(chr19:18700482-18717323)x1 copy number loss not provided [RCV000752595] Chr19:18700482..18717323 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.11(chr19:18637610-18740208)x3 copy number gain not provided [RCV000752594] Chr19:18637610..18740208 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.11(chr19:18710535-18717323)x1 copy number loss not provided [RCV000752596] Chr19:18710535..18717323 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.11(chr19:18705046-18717593)x3 copy number gain See cases [RCV000446222] Chr19:18705046..18717593 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.266G>A (p.Arg89His) single nucleotide variant not provided [RCV002519560]|not specified [RCV000419320] Chr19:18599696 [GRCh38]
Chr19:18710506 [GRCh37]
Chr19:19p13.11		 benign|likely benign
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 copy number gain See cases [RCV000449006] Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.983dup (p.Ser328fs) duplication Cold-induced sweating syndrome 1 [RCV001283834]|not provided [RCV000482935] Chr19:18596662..18596663 [GRCh38]
Chr19:18707472..18707473 [GRCh37]
Chr19:19p13.11		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_004750.5(CRLF1):c.91G>T (p.Ala31Ser) single nucleotide variant Inborn genetic diseases [RCV003281868] Chr19:18606566 [GRCh38]
Chr19:18717376 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_004750.5(CRLF1):c.353C>T (p.Ala118Val) single nucleotide variant Inborn genetic diseases [RCV003266557] Chr19:18599609 [GRCh38]
Chr19:18710419 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_004750.5(CRLF1):c.697+67G>A single nucleotide variant not provided [RCV001725432] Chr19:18598365 [GRCh38]
Chr19:18709175 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.985dup (p.Glu329fs) duplication Cold-induced sweating syndrome 1 [RCV001007859] Chr19:18596660..18596661 [GRCh38]
Chr19:18707470..18707471 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.1255+32G>A single nucleotide variant not provided [RCV001610226] Chr19:18594033 [GRCh38]
Chr19:18704843 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.115+10C>A single nucleotide variant not provided [RCV000898926] Chr19:18606532 [GRCh38]
Chr19:18717342 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.397+9G>A single nucleotide variant not provided [RCV000980891] Chr19:18599556 [GRCh38]
Chr19:18710366 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.705G>C (p.Thr235=) single nucleotide variant not provided [RCV000982978] Chr19:18597042 [GRCh38]
Chr19:18707852 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.447G>A (p.Lys149=) single nucleotide variant not provided [RCV000883533] Chr19:18598852 [GRCh38]
Chr19:18709662 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.1143C>T (p.Ser381=) single nucleotide variant not provided [RCV000915899] Chr19:18594316 [GRCh38]
Chr19:18705126 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.829del (p.Arg277fs) deletion Crisponi/Cold-induced sweating syndrome [RCV000790409] Chr19:18596918 [GRCh38]
Chr19:18707728 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.1065C>T (p.Gly355=) single nucleotide variant CRLF1-related disorder [RCV003933103]|not provided [RCV000921356] Chr19:18594394 [GRCh38]
Chr19:18705204 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.666C>T (p.Ser222=) single nucleotide variant not provided [RCV000964388] Chr19:18598463 [GRCh38]
Chr19:18709273 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.6C>T (p.Pro2=) single nucleotide variant not provided [RCV000918436] Chr19:18606651 [GRCh38]
Chr19:18717461 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.342C>T (p.Leu114=) single nucleotide variant not provided [RCV000982155] Chr19:18599620 [GRCh38]
Chr19:18710430 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.738C>T (p.Val246=) single nucleotide variant not provided [RCV000936712] Chr19:18597009 [GRCh38]
Chr19:18707819 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.824G>C (p.Arg275Pro) single nucleotide variant Cold-induced sweating syndrome 1 [RCV003313730] Chr19:18596923 [GRCh38]
Chr19:18707733 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_004750.5(CRLF1):c.311A>G (p.Asn104Ser) single nucleotide variant not provided [RCV000914438] Chr19:18599651 [GRCh38]
Chr19:18710461 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.63_66delinsT (p.Leu26del) indel not specified [RCV003231004] Chr19:18606591..18606594 [GRCh38]
Chr19:18717401..18717404 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1256-139G>A single nucleotide variant not provided [RCV001686330] Chr19:18593718 [GRCh38]
Chr19:18704528 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.115+57G>T single nucleotide variant not provided [RCV001725496] Chr19:18606485 [GRCh38]
Chr19:18717295 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.1025-65C>A single nucleotide variant not provided [RCV001644401] Chr19:18594499 [GRCh38]
Chr19:18705309 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.300G>A (p.Leu100=) single nucleotide variant not provided [RCV000909820] Chr19:18599662 [GRCh38]
Chr19:18710472 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.356G>A (p.Arg119His) single nucleotide variant not provided [RCV000974650] Chr19:18599606 [GRCh38]
Chr19:18710416 [GRCh37]
Chr19:19p13.11		 benign|conflicting interpretations of pathogenicity
NM_004750.5(CRLF1):c.1203C>T (p.Thr401=) single nucleotide variant not provided [RCV000926640] Chr19:18594256 [GRCh38]
Chr19:18705066 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.528-4G>A single nucleotide variant not provided [RCV000955033] Chr19:18598605 [GRCh38]
Chr19:18709415 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_004750.5(CRLF1):c.786C>T (p.Ala262=) single nucleotide variant not provided [RCV000911419] Chr19:18596961 [GRCh38]
Chr19:18707771 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1260T>C (p.Pro420=) single nucleotide variant not provided [RCV000913681] Chr19:18593575 [GRCh38]
Chr19:18704385 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.1024+42G>A single nucleotide variant not provided [RCV001638799] Chr19:18596580 [GRCh38]
Chr19:18707390 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.698-156_698-153del microsatellite not provided [RCV001688864] Chr19:18597202..18597205 [GRCh38]
Chr19:18708012..18708015 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.698-114A>G single nucleotide variant not provided [RCV001595383] Chr19:18597163 [GRCh38]
Chr19:18707973 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.398-50C>T single nucleotide variant not provided [RCV001676716] Chr19:18598951 [GRCh38]
Chr19:18709761 [GRCh37]
Chr19:19p13.11		 benign
NC_000019.10:g.18607022G>A single nucleotide variant not provided [RCV001669131] Chr19:18607022 [GRCh38]
Chr19:18717832 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.398-57C>T single nucleotide variant not provided [RCV001667434] Chr19:18598958 [GRCh38]
Chr19:18709768 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.698-19T>G single nucleotide variant CRLF1-related disorder [RCV003980651]|not provided [RCV003106229]|not specified [RCV001529384] Chr19:18597068 [GRCh38]
Chr19:18707878 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.460del (p.Arg154fs) deletion Cold-induced sweating syndrome 1 [RCV001335183] Chr19:18598839 [GRCh38]
Chr19:18709649 [GRCh37]
Chr19:19p13.11		 pathogenic
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NM_004750.5(CRLF1):c.237C>T (p.Asn79=) single nucleotide variant not provided [RCV001653433] Chr19:18599725 [GRCh38]
Chr19:18710535 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.115+88G>A single nucleotide variant not provided [RCV001537262] Chr19:18606454 [GRCh38]
Chr19:18717264 [GRCh37]
Chr19:19p13.11		 benign
NC_000019.10:g.18606827G>A single nucleotide variant not provided [RCV001538745] Chr19:18606827 [GRCh38]
Chr19:18717637 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.616C>T (p.Pro206Ser) single nucleotide variant not provided [RCV001758627] Chr19:18598513 [GRCh38]
Chr19:18709323 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter) single nucleotide variant Cold-induced sweating syndrome 1 [RCV002052184] Chr19:18596971 [GRCh38]
Chr19:18707781 [GRCh37]
Chr19:19p13.11		 pathogenic
NC_000019.9:g.(?_18709222)_(18710676_?)del deletion not provided [RCV003113592] Chr19:18709222..18710676 [GRCh37]
Chr19:19p13.11		 pathogenic
NC_000019.9:g.(?_17927663)_(19312528_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] Chr19:17927663..19312528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.646C>T (p.Arg216Cys) single nucleotide variant not specified [RCV002271938] Chr19:18598483 [GRCh38]
Chr19:18709293 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1A>G (p.Met1Val) single nucleotide variant Cold-induced sweating syndrome [RCV002271797] Chr19:18606656 [GRCh38]
Chr19:18717466 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_004750.5(CRLF1):c.1135dup (p.Tyr379fs) duplication not provided [RCV003237027] Chr19:18594323..18594324 [GRCh38]
Chr19:18705133..18705134 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1064G>T (p.Gly355Val) single nucleotide variant Inborn genetic diseases [RCV003365721]|not provided [RCV002261607] Chr19:18594395 [GRCh38]
Chr19:18705205 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.661C>T (p.Arg221Cys) single nucleotide variant not provided [RCV002261608] Chr19:18598468 [GRCh38]
Chr19:18709278 [GRCh37]
Chr19:19p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004750.5(CRLF1):c.4_10del (p.Pro2fs) deletion Cold-induced sweating syndrome [RCV002281810] Chr19:18606647..18606653 [GRCh38]
Chr19:18717457..18717463 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro) single nucleotide variant Cold-induced sweating syndrome 1 [RCV002287528] Chr19:18599795 [GRCh38]
Chr19:18710605 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_004750.5(CRLF1):c.771G>A (p.Trp257Ter) single nucleotide variant Cold-induced sweating syndrome 1 [RCV002262181] Chr19:18596976 [GRCh38]
Chr19:18707786 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.713del (p.Pro238fs) deletion Cold-induced sweating syndrome 1 [RCV002285031]|not provided [RCV004584964]   pathogenic
NM_004750.5(CRLF1):c.1024+2_1024+5dup duplication not specified [RCV002308589] Chr19:18596616..18596617 [GRCh38]
Chr19:18707426..18707427 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.397C>T (p.Leu133=) single nucleotide variant Inborn genetic diseases [RCV002860073] Chr19:18599565 [GRCh38]
Chr19:18710375 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1020C>A (p.Arg340=) single nucleotide variant not provided [RCV002863106] Chr19:18596626 [GRCh38]
Chr19:18707436 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1018C>G (p.Arg340Gly) single nucleotide variant not provided [RCV002755747] Chr19:18596628 [GRCh38]
Chr19:18707438 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1213-21_1213-20del microsatellite not provided [RCV002755617] Chr19:18594127..18594128 [GRCh38]
Chr19:18704937..18704938 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.473G>C (p.Gly158Ala) single nucleotide variant Inborn genetic diseases [RCV002779179] Chr19:18598826 [GRCh38]
Chr19:18709636 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.721G>A (p.Val241Met) single nucleotide variant Inborn genetic diseases [RCV003029180]|not provided [RCV003017405] Chr19:18597026 [GRCh38]
Chr19:18707836 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.910G>A (p.Gly304Ser) single nucleotide variant not provided [RCV002842183] Chr19:18596736 [GRCh38]
Chr19:18707546 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.153C>T (p.Leu51=) single nucleotide variant not provided [RCV002755493] Chr19:18599809 [GRCh38]
Chr19:18710619 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.643A>C (p.Asn215His) single nucleotide variant Inborn genetic diseases [RCV002840219] Chr19:18598486 [GRCh38]
Chr19:18709296 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.904A>C (p.Lys302Gln) single nucleotide variant not provided [RCV002750144] Chr19:18596742 [GRCh38]
Chr19:18707552 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.360C>T (p.Asp120=) single nucleotide variant not provided [RCV002775811] Chr19:18599602 [GRCh38]
Chr19:18710412 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV002775104] Chr19:18598451 [GRCh38]
Chr19:18709261 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.781C>T (p.Pro261Ser) single nucleotide variant not provided [RCV002904840] Chr19:18596966 [GRCh38]
Chr19:18707776 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.697+12G>A single nucleotide variant not provided [RCV002731170] Chr19:18598420 [GRCh38]
Chr19:18709230 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1087G>A (p.Val363Met) single nucleotide variant Inborn genetic diseases [RCV002860744] Chr19:18594372 [GRCh38]
Chr19:18705182 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.104G>T (p.Gly35Val) single nucleotide variant not provided [RCV002819795] Chr19:18606553 [GRCh38]
Chr19:18717363 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.861G>C (p.Val287=) single nucleotide variant not provided [RCV002824497] Chr19:18596785 [GRCh38]
Chr19:18707595 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.481G>T (p.Gly161Trp) single nucleotide variant Inborn genetic diseases [RCV004067057]|not provided [RCV002909898] Chr19:18598818 [GRCh38]
Chr19:18709628 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.481G>A (p.Gly161Arg) single nucleotide variant not provided [RCV002619864] Chr19:18598818 [GRCh38]
Chr19:18709628 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1212+9G>A single nucleotide variant not provided [RCV003018295] Chr19:18594238 [GRCh38]
Chr19:18705048 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.480C>T (p.His160=) single nucleotide variant not provided [RCV002619653] Chr19:18598819 [GRCh38]
Chr19:18709629 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.855+11C>T single nucleotide variant not provided [RCV002760626] Chr19:18596881 [GRCh38]
Chr19:18707691 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.211G>A (p.Ala71Thr) single nucleotide variant not provided [RCV002998682] Chr19:18599751 [GRCh38]
Chr19:18710561 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.504C>G (p.Asn168Lys) single nucleotide variant not provided [RCV002736107] Chr19:18598795 [GRCh38]
Chr19:18709605 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.355C>T (p.Arg119Cys) single nucleotide variant Inborn genetic diseases [RCV002758820] Chr19:18599607 [GRCh38]
Chr19:18710417 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.288G>A (p.Leu96=) single nucleotide variant not provided [RCV002999274] Chr19:18599674 [GRCh38]
Chr19:18710484 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.399G>A (p.Leu133=) single nucleotide variant not provided [RCV002926662] Chr19:18598900 [GRCh38]
Chr19:18709710 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.467C>T (p.Thr156Met) single nucleotide variant Inborn genetic diseases [RCV002913441]|not provided [RCV002900152] Chr19:18598832 [GRCh38]
Chr19:18709642 [GRCh37]
Chr19:19p13.11		 benign|uncertain significance
NM_004750.5(CRLF1):c.1080G>C (p.Ser360=) single nucleotide variant not provided [RCV003019781] Chr19:18594379 [GRCh38]
Chr19:18705189 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.528-18G>A single nucleotide variant not provided [RCV002761026] Chr19:18598619 [GRCh38]
Chr19:18709429 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.497A>G (p.His166Arg) single nucleotide variant not provided [RCV002766079] Chr19:18598802 [GRCh38]
Chr19:18709612 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.865G>A (p.Asp289Asn) single nucleotide variant Inborn genetic diseases [RCV002789605] Chr19:18596781 [GRCh38]
Chr19:18707591 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.136C>G (p.Gln46Glu) single nucleotide variant Inborn genetic diseases [RCV002826762] Chr19:18599826 [GRCh38]
Chr19:18710636 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.499A>G (p.Thr167Ala) single nucleotide variant not provided [RCV003023031] Chr19:18598800 [GRCh38]
Chr19:18709610 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.190G>A (p.Gly64Arg) single nucleotide variant not provided [RCV003083393] Chr19:18599772 [GRCh38]
Chr19:18710582 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.841A>G (p.Ser281Gly) single nucleotide variant not provided [RCV002933165] Chr19:18596906 [GRCh38]
Chr19:18707716 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.468G>A (p.Thr156=) single nucleotide variant not provided [RCV002890379] Chr19:18598831 [GRCh38]
Chr19:18709641 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1212+17C>T single nucleotide variant not provided [RCV002740766]|not specified [RCV003324048] Chr19:18594230 [GRCh38]
Chr19:18705040 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_004750.5(CRLF1):c.972C>G (p.Ala324=) single nucleotide variant not provided [RCV003057143] Chr19:18596674 [GRCh38]
Chr19:18707484 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.488C>A (p.Thr163Asn) single nucleotide variant not provided [RCV002805450] Chr19:18598811 [GRCh38]
Chr19:18709621 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.116-20G>A single nucleotide variant not provided [RCV002740803] Chr19:18599866 [GRCh38]
Chr19:18710676 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.660C>G (p.Ala220=) single nucleotide variant not provided [RCV003007300] Chr19:18598469 [GRCh38]
Chr19:18709279 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.792G>A (p.Lys264=) single nucleotide variant not provided [RCV002624674] Chr19:18596955 [GRCh38]
Chr19:18707765 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.650T>A (p.Leu217Gln) single nucleotide variant not provided [RCV002856638] Chr19:18598479 [GRCh38]
Chr19:18709289 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.976A>G (p.Ile326Val) single nucleotide variant not provided [RCV002581624] Chr19:18596670 [GRCh38]
Chr19:18707480 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.569T>C (p.Val190Ala) single nucleotide variant not provided [RCV003088570] Chr19:18598560 [GRCh38]
Chr19:18709370 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1247C>G (p.Thr416Arg) single nucleotide variant Inborn genetic diseases [RCV002718251] Chr19:18594073 [GRCh38]
Chr19:18704883 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.395G>A (p.Gly132Asp) single nucleotide variant not provided [RCV002746450] Chr19:18599567 [GRCh38]
Chr19:18710377 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1204C>T (p.Arg402Cys) single nucleotide variant not provided [RCV003026270] Chr19:18594255 [GRCh38]
Chr19:18705065 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.151_153del (p.Leu51del) deletion not provided [RCV002806901] Chr19:18599809..18599811 [GRCh38]
Chr19:18710619..18710621 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1233G>A (p.Ser411=) single nucleotide variant not provided [RCV002721704] Chr19:18594087 [GRCh38]
Chr19:18704897 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.511C>T (p.Leu171Phe) single nucleotide variant Inborn genetic diseases [RCV002724934] Chr19:18598788 [GRCh38]
Chr19:18709598 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1092G>A (p.Arg364=) single nucleotide variant not provided [RCV003072526] Chr19:18594367 [GRCh38]
Chr19:18705177 [GRCh37]
Chr19:19p13.11		 benign|likely benign
NM_004750.5(CRLF1):c.585C>T (p.Cys195=) single nucleotide variant not provided [RCV002610155] Chr19:18598544 [GRCh38]
Chr19:18709354 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.898G>A (p.Gly300Ser) single nucleotide variant not provided [RCV002606955] Chr19:18596748 [GRCh38]
Chr19:18707558 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1037C>G (p.Pro346Arg) single nucleotide variant Inborn genetic diseases [RCV003308526] Chr19:18594422 [GRCh38]
Chr19:18705232 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.667G>A (p.Asp223Asn) single nucleotide variant not provided [RCV003480306] Chr19:18598462 [GRCh38]
Chr19:18709272 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.495C>G (p.Leu165=) single nucleotide variant not provided [RCV003406907] Chr19:18598804 [GRCh38]
Chr19:18709614 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.615G>C (p.Thr205=) single nucleotide variant not provided [RCV003429166] Chr19:18598514 [GRCh38]
Chr19:18709324 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.966G>A (p.Lys322=) single nucleotide variant not provided [RCV003423457] Chr19:18596680 [GRCh38]
Chr19:18707490 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1005C>A (p.Ala335=) single nucleotide variant not provided [RCV003406906] Chr19:18596641 [GRCh38]
Chr19:18707451 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.747G>A (p.Leu249=) single nucleotide variant not provided [RCV003415154] Chr19:18597000 [GRCh38]
Chr19:18707810 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.397+18A>G single nucleotide variant not provided [RCV003702862] Chr19:18599547 [GRCh38]
Chr19:18710357 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.999C>A (p.Pro333=) single nucleotide variant not provided [RCV003708380] Chr19:18596647 [GRCh38]
Chr19:18707457 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1194G>T (p.Ser398=) single nucleotide variant not provided [RCV003553515] Chr19:18594265 [GRCh38]
Chr19:18705075 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.738C>G (p.Val246=) single nucleotide variant not provided [RCV003710052] Chr19:18597009 [GRCh38]
Chr19:18707819 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.972C>T (p.Ala324=) single nucleotide variant not provided [RCV003872043] Chr19:18596674 [GRCh38]
Chr19:18707484 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.527+13C>G single nucleotide variant not provided [RCV003706070] Chr19:18598759 [GRCh38]
Chr19:18709569 [GRCh37]
Chr19:19p13.11		 benign
NM_004750.5(CRLF1):c.1005C>T (p.Ala335=) single nucleotide variant not provided [RCV003732432] Chr19:18596641 [GRCh38]
Chr19:18707451 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.9C>A (p.Ala3=) single nucleotide variant not provided [RCV003551535] Chr19:18606648 [GRCh38]
Chr19:18717458 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.698-5C>T single nucleotide variant not provided [RCV003551594] Chr19:18597054 [GRCh38]
Chr19:18707864 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.147G>A (p.Thr49=) single nucleotide variant not provided [RCV003553441] Chr19:18599815 [GRCh38]
Chr19:18710625 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.1025-8A>G single nucleotide variant not provided [RCV003676558] Chr19:18594442 [GRCh38]
Chr19:18705252 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.571G>C (p.Gly191Arg) single nucleotide variant Inborn genetic diseases [RCV004367408] Chr19:18598558 [GRCh38]
Chr19:18709368 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.104G>A (p.Gly35Glu) single nucleotide variant Inborn genetic diseases [RCV004367406] Chr19:18606553 [GRCh38]
Chr19:18717363 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.718G>C (p.Asp240His) single nucleotide variant Inborn genetic diseases [RCV004367409] Chr19:18597029 [GRCh38]
Chr19:18707839 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.276C>T (p.Asn92=) single nucleotide variant CRLF1-related disorder [RCV003947048] Chr19:18599686 [GRCh38]
Chr19:18710496 [GRCh37]
Chr19:19p13.11		 likely benign
NM_004750.5(CRLF1):c.803T>C (p.Phe268Ser) single nucleotide variant not specified [RCV004526384] Chr19:18596944 [GRCh38]
Chr19:18707754 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.-131_21del (p.Met1fs) deletion Cold-induced sweating syndrome [RCV003988489] Chr19:18606636..18606787 [GRCh38]
Chr19:18717446..18717597 [GRCh37]
Chr19:19p13.11		 likely pathogenic
NM_004750.5(CRLF1):c.458G>A (p.Cys153Tyr) single nucleotide variant Inborn genetic diseases [RCV004367407] Chr19:18598841 [GRCh38]
Chr19:18709651 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.1255+5G>T single nucleotide variant not specified [RCV004690717] Chr19:18594060 [GRCh38]
Chr19:18704870 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_004750.5(CRLF1):c.828_831del (p.Arg275_Tyr276insTer) deletion Cold-induced sweating syndrome 1 [RCV004764845] Chr19:18596916..18596919 [GRCh38]
Chr19:18707726..18707729 [GRCh37]
Chr19:19p13.11		 pathogenic
NM_004750.5(CRLF1):c.605del (p.Ala202fs) deletion Cold-induced sweating syndrome 1 [RCV004764571] Chr19:18598524 [GRCh38]
Chr19:18709334 [GRCh37]
Chr19:19p13.11		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1434
Count of miRNA genes:727
Interacting mature miRNAs:845
Transcripts:ENST00000392386, ENST00000593286, ENST00000594325, ENST00000596360, ENST00000597131
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
407254162GWAS903138_Hesophageal ulcer QTL GWAS903138 (human)2e-08esophageal ulcer191860574018605741Human
407205036GWAS854012_Hblood protein measurement QTL GWAS854012 (human)1e-34blood protein measurementblood protein measurement (CMO:0000028)191859972518599726Human
407148585GWAS797561_Hblood protein measurement QTL GWAS797561 (human)1e-22blood protein measurementblood protein measurement (CMO:0000028)191859972518599726Human

Markers in Region
A002Y03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,731,582 - 18,731,845UniSTSGRCh37
Build 361918,592,582 - 18,592,845RGDNCBI36
Celera1918,633,763 - 18,634,025RGD
Cytogenetic Map19p12UniSTS
HuRef1918,294,081 - 18,294,343UniSTS
GeneMap99-GB4 RH Map19103.91UniSTS
NCBI RH Map19166.8UniSTS
D19S650E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,731,627 - 18,731,785UniSTSGRCh37
Build 361918,592,627 - 18,592,785RGDNCBI36
Celera1918,633,808 - 18,633,965RGD
Cytogenetic Map19p12UniSTS
HuRef1918,294,126 - 18,294,283UniSTS
GeneMap99-GB4 RH Map19103.8UniSTS
NCBI RH Map19166.8UniSTS
STS-R40163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,731,604 - 18,731,796UniSTSGRCh37
Build 361918,592,604 - 18,592,796RGDNCBI36
Celera1918,633,785 - 18,633,976RGD
Cytogenetic Map19p12UniSTS
HuRef1918,294,103 - 18,294,294UniSTS
GeneMap99-GB4 RH Map19104.34UniSTS
NCBI RH Map19166.7UniSTS
CRLF1_2978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,703,860 - 18,704,480UniSTSGRCh37
Build 361918,564,860 - 18,565,480RGDNCBI36
Celera1918,606,062 - 18,606,682RGD
HuRef1918,266,449 - 18,267,069UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2430 2788 2253 4970 1716 2337 6 617 1918 458 2269 7256 6439 50 3731 1 850 1742 1610 174 1

Sequence


Ensembl Acc Id: ENST00000392386   ⟹   ENSP00000376188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,593,237 - 18,606,799 (-)Ensembl
Ensembl Acc Id: ENST00000593286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,599,700 - 18,607,741 (-)Ensembl
Ensembl Acc Id: ENST00000594325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,572,220 - 18,594,435 (-)Ensembl
Ensembl Acc Id: ENST00000596360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,593,237 - 18,594,134 (-)Ensembl
Ensembl Acc Id: ENST00000597131   ⟹   ENSP00000470625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,594,362 - 18,598,593 (-)Ensembl
Ensembl Acc Id: ENST00000684169   ⟹   ENSP00000506849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,593,237 - 18,606,799 (-)Ensembl
RefSeq Acc Id: NM_004750   ⟹   NP_004741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,593,237 - 18,606,799 (-)NCBI
GRCh371918,704,035 - 18,717,660 (-)RGD
GRCh371918,704,035 - 18,717,660 (-)NCBI
Build 361918,565,047 - 18,578,660 (-)NCBI Archive
Celera1918,606,237 - 18,619,858 (-)RGD
HuRef1918,266,624 - 18,309,213 (-)RGD
CHM1_11918,704,266 - 18,717,662 (-)NCBI
T2T-CHM13v2.01918,728,303 - 18,741,874 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004741   ⟸   NM_004750
- Peptide Label: precursor
- UniProtKB: Q9UHH5 (UniProtKB/Swiss-Prot),   O75462 (UniProtKB/Swiss-Prot),   A0A804HI12 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000470625   ⟸   ENST00000597131
Ensembl Acc Id: ENSP00000376188   ⟸   ENST00000392386
Ensembl Acc Id: ENSP00000506849   ⟸   ENST00000684169
Protein Domains
Fibronectin type-III   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75462-F1-model_v2 AlphaFold O75462 1-422 view protein structure

Promoters
RGD ID:6811538
Promoter ID:HG_ACW:40519
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:CRLF1.FAPR07,   CRLF1.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,566,134 - 18,566,634 (-)MPROMDB
RGD ID:6811537
Promoter ID:HG_ACW:40520
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:CRLF1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,568,474 - 18,568,974 (-)MPROMDB
RGD ID:7239167
Promoter ID:EPDNEW_H25329
Type:initiation region
Name:CRLF1_1
Description:cytokine receptor like factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,606,799 - 18,606,859EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2364 AgrOrtholog
COSMIC CRLF1 COSMIC
Ensembl Genes ENSG00000006016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392386 ENTREZGENE
  ENST00000392386.8 UniProtKB/Swiss-Prot
  ENST00000597131.1 UniProtKB/TrEMBL
  ENST00000684169.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000006016 GTEx
HGNC ID HGNC:2364 ENTREZGENE
Human Proteome Map CRLF1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth/epo_recpt_lig-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type-I_Cytokine_Rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9244 UniProtKB/Swiss-Prot
NCBI Gene 9244 ENTREZGENE
OMIM 604237 OMIM
PANTHER CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOKINE RECEPTOR-LIKE FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EpoR_lig-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26882 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HI12 ENTREZGENE, UniProtKB/TrEMBL
  CRLF1_HUMAN UniProtKB/Swiss-Prot
  M0QZL6_HUMAN UniProtKB/TrEMBL
  O75462 ENTREZGENE
  Q9UHH5 ENTREZGENE
UniProt Secondary Q9UHH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 CRLF1  cytokine receptor like factor 1  CRLF1  cytokine receptor-like factor 1  Symbol and/or name change 5135510 APPROVED