FGFRL1 (fibroblast growth factor receptor like 1) - Rat Genome Database

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Gene: FGFRL1 (fibroblast growth factor receptor like 1) Homo sapiens
Analyze
Symbol: FGFRL1
Name: fibroblast growth factor receptor like 1
RGD ID: 1354107
HGNC Page HGNC
Description: Enables fibroblast growth factor-activated receptor activity; heparin binding activity; and identical protein binding activity. Involved in cell-cell adhesion via plasma-membrane adhesion molecules. Located in several cellular components, including Golgi apparatus; cell-cell contact zone; and transport vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FGF homologous factor receptor; FGF receptor-like protein 1; FGFR-5; FGFR-like protein; FGFR5; FHFR; fibroblast growth factor receptor 5; fibroblast growth factor receptor-like 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl41,009,936 - 1,026,898 (+)EnsemblGRCh38hg38GRCh38
GRCh3841,009,930 - 1,026,898 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3741,005,414 - 1,020,686 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364995,610 - 1,010,686 (+)NCBINCBI36hg18NCBI36
Build 344996,081 - 1,010,515NCBI
Celera4943,223 - 957,920 (+)NCBI
Cytogenetic Map4p16.3NCBI
HuRef4977,509 - 991,567 (+)NCBIHuRef
CHM1_141,004,941 - 1,020,476 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal form of the vertebral bodies  (IAGP)
Abnormal sternal ossification  (IAGP)
Abnormality of the pinna  (IAGP)
Absent septum pellucidum  (IAGP)
Accessory spleen  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aplasia cutis congenita of scalp  (IAGP)
Aplasia of the uterus  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Biliary tract abnormality  (IAGP)
Cavum septum pellucidum  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Convex nasal ridge  (IAGP)
Craniofacial asymmetry  (IAGP)
Cryptorchidism  (IAGP)
Decreased fetal movement  (IAGP)
Decreased muscle mass  (IAGP)
Delayed skeletal maturation  (IAGP)
Downturned corners of mouth  (IAGP)
Ectopia pupillae  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hemangioma  (IAGP)
High forehead  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hydrocephalus  (IAGP)
Hyperconvex fingernails  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypospadias  (IAGP)
Immunodeficiency  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Kyphosis  (IAGP)
Low posterior hairline  (IAGP)
Malrotation of small bowel  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Nystagmus  (IAGP)
Periventricular cysts  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Precocious puberty  (IAGP)
Prominent glabella  (IAGP)
Proptosis  (IAGP)
Pseudoepiphyses of the metacarpals  (IAGP)
Ptosis  (IAGP)
Radioulnar synostosis  (IAGP)
Rib fusion  (IAGP)
Rib segmentation abnormalities  (IAGP)
Rieger anomaly  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short hallux  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Short upper lip  (IAGP)
Single transverse palmar crease  (IAGP)
Small for gestational age  (IAGP)
Split hand  (IAGP)
Sporadic  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tethered cord  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral fusion  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:11031111   PMID:11267671   PMID:11418238   PMID:12477932   PMID:12813049   PMID:12975309   PMID:14702039   PMID:15340161   PMID:15489334   PMID:16019430   PMID:16273302  
PMID:18061161   PMID:19056490   PMID:19913121   PMID:19920134   PMID:20024584   PMID:20184660   PMID:20453000   PMID:20628086   PMID:20851884   PMID:21044961   PMID:21080029   PMID:21616146  
PMID:21873635   PMID:22658674   PMID:23251661   PMID:23640895   PMID:23775577   PMID:24249740   PMID:25941324   PMID:26025674   PMID:27220341   PMID:27666683   PMID:28514442   PMID:28596102  
PMID:28611215   PMID:29180619   PMID:29675438   PMID:30194290   PMID:30639242   PMID:31957179   PMID:32098557   PMID:32396269   PMID:32513696   PMID:33019532   PMID:33085242   PMID:33443296  
PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
FGFRL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl41,009,936 - 1,026,898 (+)EnsemblGRCh38hg38GRCh38
GRCh3841,009,930 - 1,026,898 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3741,005,414 - 1,020,686 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364995,610 - 1,010,686 (+)NCBINCBI36hg18NCBI36
Build 344996,081 - 1,010,515NCBI
Celera4943,223 - 957,920 (+)NCBI
Cytogenetic Map4p16.3NCBI
HuRef4977,509 - 991,567 (+)NCBIHuRef
CHM1_141,004,941 - 1,020,476 (+)NCBICHM1_1
Fgfrl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395108,842,051 - 108,854,816 (+)NCBIGRCm39mm39
GRCm39 Ensembl5108,840,248 - 108,854,790 (+)Ensembl
GRCm385108,694,229 - 108,706,950 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5108,692,382 - 108,706,924 (+)EnsemblGRCm38mm10GRCm38
MGSCv375109,123,248 - 109,135,969 (+)NCBIGRCm37mm9NCBIm37
MGSCv365108,934,804 - 108,947,200 (+)NCBImm8
Celera5105,826,033 - 105,829,700 (+)NCBICelera
Cytogenetic Map5FNCBI
Fgfrl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2141,009,863 - 1,022,620 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl141,009,786 - 1,021,928 (-)Ensembl
Rnor_6.0142,020,110 - 2,032,169 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl142,018,500 - 2,032,593 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0142,015,651 - 2,027,710 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4141,550,894 - 1,562,953 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1141,550,893 - 1,562,953 (-)NCBI
Celera141,049,319 - 1,061,378 (-)NCBICelera
Cytogenetic Map14p22NCBI
Fgfrl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955514497,573 - 509,811 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955514499,526 - 509,208 (+)NCBIChiLan1.0ChiLan1.0
FGFRL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.141,045,581 - 1,059,936 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl41,045,583 - 1,059,936 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v041,125,623 - 1,142,884 (+)NCBIMhudiblu_PPA_v0panPan3
FGFRL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1391,499,088 - 91,508,982 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha393,964,415 - 93,975,188 (-)NCBI
ROS_Cfam_1.0392,495,931 - 92,506,701 (-)NCBI
UMICH_Zoey_3.1391,669,487 - 91,680,257 (-)NCBI
UNSW_CanFamBas_1.0391,723,012 - 91,733,089 (-)NCBI
UU_Cfam_GSD_1.0392,106,190 - 92,116,970 (-)NCBI
Fgfrl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528568,475,781 - 68,487,879 (-)NCBI
SpeTri2.0NW_00493647722,177,473 - 22,189,554 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGFRL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8365,181 - 378,381 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18365,367 - 378,384 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
FGFRL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12747,752,316 - 47,766,771 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2747,750,626 - 47,755,929 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660514,134,711 - 4,148,364 (-)NCBIVero_WHO_p1.0
Fgfrl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475526,134,957 - 26,145,746 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-W85782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,002,101 - 1,002,316UniSTSGRCh37
Build 364992,101 - 992,316RGDNCBI36
Celera4938,961 - 939,176RGD
Cytogenetic Map4p16UniSTS
HuRef4973,247 - 973,462UniSTS
TNG Radiation Hybrid Map4597.0UniSTS
GeneMap99-GB4 RH Map422.24UniSTS
NCBI RH Map430.0UniSTS
SHGC-67280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,002,047 - 1,002,125UniSTSGRCh37
Build 364992,047 - 992,125RGDNCBI36
Celera4938,907 - 938,985RGD
Cytogenetic Map4p16UniSTS
HuRef4973,193 - 973,271UniSTS
GeneMap99-GB4 RH Map40.0UniSTS
NCBI RH Map42.7UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR210hsa-miR-210-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//qRT-PCR//WeFunctional MTI21044961
MIR210hsa-miR-210-3pOncomiRDBexternal_infoNANA23023426
MIR210hsa-miR-210-3pOncomiRDBexternal_infoNANA21044961

Predicted Target Of
Summary Value
Count of predictions:2870
Count of miRNA genes:819
Interacting mature miRNAs:994
Transcripts:ENST00000264748, ENST00000398484, ENST00000504138, ENST00000507339, ENST00000510644, ENST00000512174, ENST00000512562
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 4 1
Medium 1917 1859 1688 586 528 439 3664 1533 3195 371 1111 1527 160 1177 2368
Low 517 1071 36 38 1345 26 690 658 507 48 336 59 11 27 420 4 2
Below cutoff 55 70 1 3 12 4 22 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001004356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001004358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC019103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF312678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV707425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ689625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264748   ⟹   ENSP00000264748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,012,451 - 1,026,897 (+)Ensembl
RefSeq Acc Id: ENST00000398484   ⟹   ENSP00000381498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,009,979 - 1,026,891 (+)Ensembl
RefSeq Acc Id: ENST00000504138   ⟹   ENSP00000423091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,012,146 - 1,025,347 (+)Ensembl
RefSeq Acc Id: ENST00000507339   ⟹   ENSP00000424037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,012,156 - 1,023,840 (+)Ensembl
RefSeq Acc Id: ENST00000510644   ⟹   ENSP00000425025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,011,626 - 1,026,898 (+)Ensembl
RefSeq Acc Id: ENST00000512174   ⟹   ENSP00000426740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,012,155 - 1,022,363 (+)Ensembl
RefSeq Acc Id: ENST00000512562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl41,009,936 - 1,011,027 (+)Ensembl
RefSeq Acc Id: NM_001004356   ⟹   NP_001004356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,011,626 - 1,026,898 (+)NCBI
GRCh3741,004,712 - 1,020,686 (+)NCBI
Build 364995,610 - 1,010,686 (+)NCBI Archive
HuRef4977,509 - 991,567 (+)NCBI
CHM1_141,004,941 - 1,020,476 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001004358   ⟹   NP_001004358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,011,972 - 1,026,898 (+)NCBI
GRCh3741,004,712 - 1,020,686 (+)NCBI
Build 364995,760 - 1,010,686 (+)NCBI Archive
HuRef4977,509 - 991,567 (+)NCBI
CHM1_141,006,042 - 1,020,476 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370296   ⟹   NP_001357225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,012,141 - 1,026,898 (+)NCBI
RefSeq Acc Id: NM_021923   ⟹   NP_068742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,012,464 - 1,026,898 (+)NCBI
GRCh3741,004,712 - 1,020,686 (+)NCBI
Build 364996,252 - 1,010,686 (+)NCBI Archive
HuRef4977,509 - 991,567 (+)NCBI
CHM1_141,006,042 - 1,020,476 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454092   ⟹   XP_024309860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,009,930 - 1,026,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454093   ⟹   XP_024309861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,009,930 - 1,026,898 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001004356   ⟸   NM_001004356
- Peptide Label: precursor
- UniProtKB: Q8N441 (UniProtKB/Swiss-Prot),   A0PJ49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068742   ⟸   NM_021923
- Peptide Label: precursor
- UniProtKB: Q8N441 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001004358   ⟸   NM_001004358
- Peptide Label: precursor
- UniProtKB: Q8N441 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309861   ⟸   XM_024454093
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024309860   ⟸   XM_024454092
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001357225   ⟸   NM_001370296
- Peptide Label: precursor
RefSeq Acc Id: ENSP00000381498   ⟸   ENST00000398484
RefSeq Acc Id: ENSP00000423091   ⟸   ENST00000504138
RefSeq Acc Id: ENSP00000424037   ⟸   ENST00000507339
RefSeq Acc Id: ENSP00000425025   ⟸   ENST00000510644
RefSeq Acc Id: ENSP00000426740   ⟸   ENST00000512174
RefSeq Acc Id: ENSP00000264748   ⟸   ENST00000264748
Protein Domains
Ig-like   Ig-like C2-type

Promoters
RGD ID:6802317
Promoter ID:HG_KWN:47643
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   NB4
Transcripts:UC003GCE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364994,209 - 994,709 (+)MPROMDB
RGD ID:6802318
Promoter ID:HG_KWN:47644
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000264748,   NM_001004356,   NM_001004358,   UC010IBO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364994,611 - 996,247 (+)MPROMDB
RGD ID:6866806
Promoter ID:EPDNEW_H6568
Type:initiation region
Name:FGFRL1_3
Description:fibroblast growth factor receptor-like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6569  EPDNEW_H6570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,011,864 - 1,011,924EPDNEW
RGD ID:6866808
Promoter ID:EPDNEW_H6569
Type:initiation region
Name:FGFRL1_2
Description:fibroblast growth factor receptor-like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6568  EPDNEW_H6570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,012,141 - 1,012,201EPDNEW
RGD ID:6866810
Promoter ID:EPDNEW_H6570
Type:initiation region
Name:FGFRL1_1
Description:fibroblast growth factor receptor-like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6568  EPDNEW_H6569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,012,395 - 1,012,455EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1405362)x3 copy number gain See cases [RCV000051563] Chr4:72555..1405362 [GRCh38]
Chr4:72447..1399150 [GRCh37]
Chr4:62447..1389150 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3(chr4:958618-1026629)x3 copy number gain See cases [RCV000134620] Chr4:958618..1026629 [GRCh38]
Chr4:952406..1020417 [GRCh37]
Chr4:942406..1010417 [NCBI36]
Chr4:4p16.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 4p16.3(chr4:975137-1026629)x3 copy number gain See cases [RCV000134630] Chr4:975137..1026629 [GRCh38]
Chr4:968925..1020417 [GRCh37]
Chr4:958925..1010417 [NCBI36]
Chr4:4p16.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:620566-1405362)x3 copy number gain See cases [RCV000135648] Chr4:620566..1405362 [GRCh38]
Chr4:614355..1399150 [GRCh37]
Chr4:604355..1389150 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1153038)x1 copy number loss See cases [RCV000137135] Chr4:72555..1153038 [GRCh38]
Chr4:72447..1146826 [GRCh37]
Chr4:62447..1136826 [NCBI36]
Chr4:4p16.3
likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:51519-1405362)x1 copy number loss See cases [RCV000136895] Chr4:51519..1405362 [GRCh38]
Chr4:51413..1399150 [GRCh37]
Chr4:41413..1389150 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1581567)x3 copy number gain See cases [RCV000137386] Chr4:36424..1581567 [GRCh38]
Chr4:36424..1583294 [GRCh37]
Chr4:26424..1553260 [NCBI36]
Chr4:4p16.3
likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1581567)x1 copy number loss See cases [RCV000139439] Chr4:72555..1581567 [GRCh38]
Chr4:72447..1583294 [GRCh37]
Chr4:62447..1553260 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:958677-1026629)x4 copy number gain See cases [RCV000140384] Chr4:958677..1026629 [GRCh38]
Chr4:952465..1020417 [GRCh37]
Chr4:942465..1010417 [NCBI36]
Chr4:4p16.3
benign
GRCh38/hg38 4p16.3(chr4:975137-1026688)x3 copy number gain See cases [RCV000140418] Chr4:975137..1026688 [GRCh38]
Chr4:968925..1020476 [GRCh37]
Chr4:958925..1010476 [NCBI36]
Chr4:4p16.3
benign
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1562150)x1 copy number loss See cases [RCV000143217] Chr4:36424..1562150 [GRCh38]
Chr4:36424..1563877 [GRCh37]
Chr4:26424..1533937 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3
likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3 copy number gain See cases [RCV000510819] Chr4:910410..1798461 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-1677853)x1 copy number loss See cases [RCV000511217] Chr4:68345..1677853 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3(chr4:917519-1385258)x3 copy number gain not provided [RCV000682365] Chr4:917519..1385258 [GRCh37]
Chr4:4p16.3
uncertain significance
Single allele duplication not provided [RCV000677909] Chr4:12440..1583294 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3(chr4:941924-1031844)x3 copy number gain not provided [RCV000743176] Chr4:941924..1031844 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:942006-1045265)x3 copy number gain not provided [RCV000743177] Chr4:942006..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:946226-1037125)x3 copy number gain not provided [RCV000743178] Chr4:946226..1037125 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947024-1019101)x3 copy number gain not provided [RCV000743179] Chr4:947024..1019101 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947024-1033685)x3 copy number gain not provided [RCV000743180] Chr4:947024..1033685 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947024-1045265)x3 copy number gain not provided [RCV000743181] Chr4:947024..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1019101)x3 copy number gain not provided [RCV000743182] Chr4:947035..1019101 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1019312)x3 copy number gain not provided [RCV000743183] Chr4:947035..1019312 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1033685)x3 copy number gain not provided [RCV000743184] Chr4:947035..1033685 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1045265)x3 copy number gain not provided [RCV000743185] Chr4:947035..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:951746-1045265)x3 copy number gain not provided [RCV000743186] Chr4:951746..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:954422-1019312)x3 copy number gain not provided [RCV000743187] Chr4:954422..1019312 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:954449-1019312)x3 copy number gain not provided [RCV000743190] Chr4:954449..1019312 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:1003890-1006924)x0 copy number loss not provided [RCV000743192] Chr4:1003890..1006924 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:1003890-1009420)x3 copy number gain not provided [RCV000743193] Chr4:1003890..1009420 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:1003890-1165764)x3 copy number gain not provided [RCV000743194] Chr4:1003890..1165764 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_001004356.3(FGFRL1):c.22C>T (p.Leu8=) single nucleotide variant not provided [RCV000894778] Chr4:1012507 [GRCh38]
Chr4:1006295 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.516C>T (p.Cys172=) single nucleotide variant not provided [RCV000917235] Chr4:1023899 [GRCh38]
Chr4:1017687 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.525C>T (p.Ser175=) single nucleotide variant not provided [RCV000917488] Chr4:1023908 [GRCh38]
Chr4:1017696 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.124C>T (p.Arg42Trp) single nucleotide variant Flexion contracture [RCV001007784] Chr4:1022247 [GRCh38]
Chr4:1016035 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_001004356.3(FGFRL1):c.828G>A (p.Pro276=) single nucleotide variant not provided [RCV000969471] Chr4:1024420 [GRCh38]
Chr4:1018208 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.80-9C>T single nucleotide variant not provided [RCV000906955] Chr4:1022194 [GRCh38]
Chr4:1015982 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.864C>T (p.Ala288=) single nucleotide variant not provided [RCV000943440] Chr4:1024456 [GRCh38]
Chr4:1018244 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1383C>T (p.Gly461=) single nucleotide variant not provided [RCV000900370] Chr4:1025215 [GRCh38]
Chr4:1019003 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.80-7C>T single nucleotide variant not provided [RCV000925301] Chr4:1022196 [GRCh38]
Chr4:1015984 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.876C>T (p.His292=) single nucleotide variant not provided [RCV000902975] Chr4:1024468 [GRCh38]
Chr4:1018256 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.192C>T (p.Thr64=) single nucleotide variant not provided [RCV000883775] Chr4:1022315 [GRCh38]
Chr4:1016103 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.537G>T (p.Arg179=) single nucleotide variant not provided [RCV000901813] Chr4:1023920 [GRCh38]
Chr4:1017708 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.95C>T (p.Ala32Val) single nucleotide variant not provided [RCV000882600] Chr4:1022218 [GRCh38]
Chr4:1016006 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.576G>A (p.Thr192=) single nucleotide variant not provided [RCV000923256] Chr4:1023959 [GRCh38]
Chr4:1017747 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1257G>A (p.Pro419=) single nucleotide variant not provided [RCV000923257] Chr4:1025089 [GRCh38]
Chr4:1018877 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1349A>G (p.His450Arg) single nucleotide variant not provided [RCV000906292] Chr4:1025181 [GRCh38]
Chr4:1018969 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.178C>T (p.Leu60=) single nucleotide variant not provided [RCV000976000] Chr4:1022301 [GRCh38]
Chr4:1016089 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.309C>T (p.Asn103=) single nucleotide variant not provided [RCV000915169] Chr4:1022432 [GRCh38]
Chr4:1016220 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.234C>A (p.Arg78=) single nucleotide variant not provided [RCV000892855] Chr4:1022357 [GRCh38]
Chr4:1016145 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.291C>T (p.Tyr97=) single nucleotide variant not provided [RCV000915362] Chr4:1022414 [GRCh38]
Chr4:1016202 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1452_1455dup (p.Ser486fs) microsatellite not provided [RCV000900079] Chr4:1025266..1025267 [GRCh38]
Chr4:1019054..1019055 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.723G>A (p.Arg241=) single nucleotide variant not provided [RCV000973354] Chr4:1024315 [GRCh38]
Chr4:1018103 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.561C>T (p.Asp187=) single nucleotide variant not provided [RCV000903941] Chr4:1023944 [GRCh38]
Chr4:1017732 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1059C>A (p.Leu353=) single nucleotide variant not provided [RCV000923740] Chr4:1024651 [GRCh38]
Chr4:1018439 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.578G>A (p.Arg193His) single nucleotide variant not provided [RCV000970963] Chr4:1023961 [GRCh38]
Chr4:1017749 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1302G>A (p.Ser434=) single nucleotide variant not provided [RCV000922523] Chr4:1025134 [GRCh38]
Chr4:1018922 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) single nucleotide variant not provided [RCV000903177] Chr4:1023924 [GRCh38]
Chr4:1017712 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1347G>A (p.Glu449=) single nucleotide variant not provided [RCV000909065] Chr4:1025179 [GRCh38]
Chr4:1018967 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.873C>T (p.Arg291=) single nucleotide variant not provided [RCV000917509] Chr4:1024465 [GRCh38]
Chr4:1018253 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.216C>T (p.Ser72=) single nucleotide variant not provided [RCV000916483] Chr4:1022339 [GRCh38]
Chr4:1016127 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV000962066] Chr4:1023971 [GRCh38]
Chr4:1017759 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1020C>T (p.Gly340=) single nucleotide variant not provided [RCV000924278] Chr4:1024612 [GRCh38]
Chr4:1018400 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.616C>T (p.Leu206=) single nucleotide variant not provided [RCV000915804] Chr4:1023999 [GRCh38]
Chr4:1017787 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1263G>C (p.Gly421=) single nucleotide variant not provided [RCV000975423] Chr4:1025095 [GRCh38]
Chr4:1018883 [GRCh37]
Chr4:4p16.3
likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
NM_001004356.3(FGFRL1):c.1134C>T (p.Pro378=) single nucleotide variant not provided [RCV000898242] Chr4:1024966 [GRCh38]
Chr4:1018754 [GRCh37]
Chr4:4p16.3
likely benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3
pathogenic
NM_001004356.3(FGFRL1):c.738C>T (p.Pro246=) single nucleotide variant not provided [RCV000885419] Chr4:1024330 [GRCh38]
Chr4:1018118 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.433+7A>T single nucleotide variant not provided [RCV000923464] Chr4:1023728 [GRCh38]
Chr4:1017516 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.672G>A (p.Ser224=) single nucleotide variant not provided [RCV000925852] Chr4:1024055 [GRCh38]
Chr4:1017843 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1481G>A (p.Gly494Asp) single nucleotide variant not provided [RCV000901365] Chr4:1025313 [GRCh38]
Chr4:1019101 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1452_1455del (p.His485fs) microsatellite not provided [RCV000895560] Chr4:1025267..1025270 [GRCh38]
Chr4:1019055..1019058 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.489C>T (p.Pro163=) single nucleotide variant not provided [RCV000976140] Chr4:1023872 [GRCh38]
Chr4:1017660 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.480C>T (p.Ile160=) single nucleotide variant not provided [RCV000942747] Chr4:1023863 [GRCh38]
Chr4:1017651 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1155C>T (p.Ala385=) single nucleotide variant not provided [RCV000910420] Chr4:1024987 [GRCh38]
Chr4:1018775 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1227G>A (p.Ala409=) single nucleotide variant not provided [RCV000911999] Chr4:1025059 [GRCh38]
Chr4:1018847 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1260G>A (p.Pro420=) single nucleotide variant not provided [RCV000911064] Chr4:1025092 [GRCh38]
Chr4:1018880 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1302G>C (p.Ser434=) single nucleotide variant not provided [RCV000889306] Chr4:1025134 [GRCh38]
Chr4:1018922 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.1251C>T (p.His417=) single nucleotide variant not provided [RCV000913554] Chr4:1025083 [GRCh38]
Chr4:1018871 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.336C>T (p.Tyr112=) single nucleotide variant not provided [RCV000912693] Chr4:1022459 [GRCh38]
Chr4:1016247 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.501C>T (p.Ser167=) single nucleotide variant not provided [RCV000956167] Chr4:1023884 [GRCh38]
Chr4:1017672 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.993C>T (p.Asp331=) single nucleotide variant not provided [RCV000911998] Chr4:1024585 [GRCh38]
Chr4:1018373 [GRCh37]
Chr4:4p16.3
likely benign
NM_001004356.3(FGFRL1):c.948C>T (p.Asp316=) single nucleotide variant not provided [RCV000912197] Chr4:1024540 [GRCh38]
Chr4:1018328 [GRCh37]
Chr4:4p16.3
likely benign
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) single nucleotide variant 4p partial monosomy syndrome [RCV001199252] Chr4:1024434 [GRCh38]
Chr4:1018222 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
NM_001004356.3(FGFRL1):c.335A>G (p.Tyr112Cys) single nucleotide variant Microcephaly [RCV001252843] Chr4:1022458 [GRCh38]
Chr4:1016246 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:687413-1054539)x3 copy number gain not provided [RCV001258636] Chr4:687413..1054539 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:1-1328868)x1 copy number loss not provided [RCV001258632] Chr4:1..1328868 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-1109959)x1 copy number loss not provided [RCV001258641] Chr4:68345..1109959 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:794088-1179515)x1 copy number loss not provided [RCV001258639] Chr4:794088..1179515 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Renal hypoplasia [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3
pathogenic
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) single nucleotide variant Congenital diaphragmatic hernia [RCV001281070] Chr4:1024478 [GRCh38]
Chr4:1018266 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_001004356.3(FGFRL1):c.812G>A (p.Arg271His) single nucleotide variant not provided [RCV001309385] Chr4:1024404 [GRCh38]
Chr4:1018192 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) single nucleotide variant Congenital diaphragmatic hernia [RCV001281071] Chr4:1025160 [GRCh38]
Chr4:1018948 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_001004356.3(FGFRL1):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV001313415] Chr4:1023825 [GRCh38]
Chr4:1017613 [GRCh37]
Chr4:4p16.3
uncertain significance
NM_001004356.3(FGFRL1):c.718+34_718+66del deletion not provided [RCV001509656] Chr4:1024116..1024148 [GRCh38]
Chr4:1017904..1017936 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1271G>T (p.Arg424Leu) single nucleotide variant not provided [RCV001522570] Chr4:1025103 [GRCh38]
Chr4:1018891 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.352+16G>A single nucleotide variant not provided [RCV001515751] Chr4:1022491 [GRCh38]
Chr4:1016279 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1085C>A (p.Pro362Gln) single nucleotide variant not provided [RCV001509690] Chr4:1024917 [GRCh38]
Chr4:1018705 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.60G>A (p.Pro20=) single nucleotide variant not provided [RCV001520974] Chr4:1012545 [GRCh38]
Chr4:1006333 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.1391C>T (p.Pro464Leu) single nucleotide variant not provided [RCV001521785] Chr4:1025223 [GRCh38]
Chr4:1019011 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.433+10G>C single nucleotide variant not provided [RCV001523505] Chr4:1023731 [GRCh38]
Chr4:1017519 [GRCh37]
Chr4:4p16.3
benign
NM_001004356.3(FGFRL1):c.891T>C (p.Asp297=) single nucleotide variant not provided [RCV001523506] Chr4:1024483 [GRCh38]
Chr4:1018271 [GRCh37]
Chr4:4p16.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3693 AgrOrtholog
COSMIC FGFRL1 COSMIC
Ensembl Genes ENSG00000127418 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264748 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381498 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000424037 UniProtKB/TrEMBL
  ENSP00000425025 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426740 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264748 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398484 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000507339 UniProtKB/TrEMBL
  ENST00000510644 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000512174 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127418 GTEx
HGNC ID HGNC:3693 ENTREZGENE
Human Proteome Map FGFRL1 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53834 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 53834 ENTREZGENE
OMIM 605830 OMIM
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28132 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0PJ49 ENTREZGENE, UniProtKB/TrEMBL
  D6RBN8_HUMAN UniProtKB/TrEMBL
  D6REM7_HUMAN UniProtKB/TrEMBL
  FGRL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RAU9 UniProtKB/Swiss-Prot
  Q6PJN1 UniProtKB/Swiss-Prot
  Q9BXN7 UniProtKB/Swiss-Prot
  Q9H4D7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 FGFRL1  fibroblast growth factor receptor like 1    fibroblast growth factor receptor-like 1  Symbol and/or name change 5135510 APPROVED
2011-08-17 FGFRL1  fibroblast growth factor receptor-like 1  FGFRL1  fibroblast growth factor receptor-like 1  Symbol and/or name change 5135510 APPROVED