IL11RA (interleukin 11 receptor subunit alpha) - Rat Genome Database

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Gene: IL11RA (interleukin 11 receptor subunit alpha) Homo sapiens
Analyze
Symbol: IL11RA
Name: interleukin 11 receptor subunit alpha
RGD ID: 732444
HGNC Page HGNC
Description: Predicted to enable interleukin-11 binding activity and interleukin-11 receptor activity. Involved in head development. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. Predicted to be part of receptor complex. Predicted to be active in external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CRSDA; IL-11 receptor subunit alpha; IL-11R subunit alpha; IL-11R-alpha; IL-11RA; interleukin 11 receptor, alpha; interleukin 11 receptor, alpha chain 1; interleukin-11 receptor alpha chain; interleukin-11 receptor subunit alpha; MGC2146
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 Ensembl934,650,702 - 34,661,902 (+)EnsemblGRCh38hg38GRCh38
GRCh38934,652,185 - 34,661,902 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37934,652,182 - 34,661,899 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,643,932 - 34,651,884 (+)NCBINCBI36hg18NCBI36
Build 34934,643,931 - 34,650,815NCBI
Celera934,583,653 - 34,593,355 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef934,606,462 - 34,616,181 (+)NCBIHuRef
CHM1_1934,651,965 - 34,661,682 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7670098   PMID:8786120   PMID:8808281   PMID:9632650   PMID:10026196   PMID:10504396   PMID:11141475   PMID:11181995   PMID:11241561   PMID:11315919   PMID:11498264   PMID:12200462  
PMID:12477932   PMID:12569176   PMID:14701802   PMID:14702039   PMID:14744752   PMID:15489334   PMID:15512823   PMID:16291580   PMID:16344560   PMID:16614887   PMID:16964382   PMID:17332920  
PMID:18941632   PMID:18987331   PMID:19423540   PMID:19913121   PMID:20406964   PMID:20438785   PMID:20553623   PMID:20628086   PMID:21741611   PMID:21873635   PMID:21982075   PMID:22075555  
PMID:22433466   PMID:25524575   PMID:26551279   PMID:26876177   PMID:27920471   PMID:27922075   PMID:28186993   PMID:29237553   PMID:29523682   PMID:29533934   PMID:29901200   PMID:29926465  
PMID:30811827   PMID:32277509   PMID:32296183   PMID:32332100   PMID:33566379  


Genomics

Comparative Map Data
IL11RA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl934,650,702 - 34,661,902 (+)EnsemblGRCh38hg38GRCh38
GRCh38934,652,185 - 34,661,902 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37934,652,182 - 34,661,899 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,643,932 - 34,651,884 (+)NCBINCBI36hg18NCBI36
Build 34934,643,931 - 34,650,815NCBI
Celera934,583,653 - 34,593,355 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef934,606,462 - 34,616,181 (+)NCBIHuRef
CHM1_1934,651,965 - 34,661,682 (+)NCBICHM1_1
Il11ra1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,760,443 - 41,769,473 (+)NCBIGRCm39mm39
GRCm39 Ensembl441,699,989 - 41,769,474 (+)Ensembl
GRCm38441,760,443 - 41,769,473 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,699,989 - 41,769,474 (+)EnsemblGRCm38mm10GRCm38
MGSCv37441,707,316 - 41,716,346 (+)NCBIGRCm37mm9NCBIm37
MGSCv36441,950,869 - 41,957,984 (+)NCBImm8
Celera441,421,225 - 41,430,277 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map421.94NCBI
Il11ra1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2556,931,824 - 56,941,408 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl556,935,516 - 56,941,408 (+)Ensembl
Rnor_6.0558,149,150 - 58,159,072 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,151,985 - 58,159,072 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,673,838 - 62,683,436 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,192,698 - 59,199,783 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,192,876 - 59,199,962 (+)NCBI
Celera555,526,482 - 55,533,561 (+)NCBICelera
Cytogenetic Map5q22NCBI
Il11ra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554721,474,802 - 1,485,352 (-)NCBIChiLan1.0ChiLan1.0
IL11RA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1935,297,316 - 35,307,159 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0934,487,313 - 34,498,477 (+)NCBIMhudiblu_PPA_v0panPan3
IL11RA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,324,915 - 51,341,981 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,953,267 - 49,970,134 (+)NCBI
ROS_Cfam_1.01152,265,652 - 52,282,519 (+)NCBI
UMICH_Zoey_3.11150,928,355 - 50,945,221 (+)NCBI
UNSW_CanFamBas_1.01150,796,497 - 50,813,366 (+)NCBI
UU_Cfam_GSD_1.01151,561,269 - 51,578,140 (+)NCBI
Il11ra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,184,831 - 166,211,247 (+)NCBI
SpeTri2.0NW_0049365242,732,477 - 2,743,044 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL11RA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11032,138,984 - 32,149,315 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21036,278,889 - 36,289,165 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IL11RA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,959,370 - 45,970,563 (-)NCBI
Vero_WHO_p1.0NW_02366603843,076,251 - 43,087,084 (-)NCBI
Il11ra
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473639,043,972 - 39,055,689 (+)NCBI

Position Markers
D9S1978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,650,415 - 34,650,521UniSTSGRCh37
Build 36934,640,415 - 34,640,521RGDNCBI36
Celera934,581,886 - 34,581,992RGD
Cytogenetic Map9p13UniSTS
HuRef934,604,695 - 34,604,801UniSTS
GeneMap99-GB4 RH Map9137.88UniSTS
Whitehead-RH Map9145.1UniSTS
SHGC-35540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,661,562 - 34,661,780UniSTSGRCh37
Build 36934,651,562 - 34,651,780RGDNCBI36
Celera934,593,033 - 34,593,251RGD
Cytogenetic Map9p13UniSTS
HuRef934,615,844 - 34,616,062UniSTS
Stanford-G3 RH Map91488.0UniSTS
GeneMap99-GB4 RH Map9124.21UniSTS
Whitehead-RH Map9147.0UniSTS
NCBI RH Map9460.6UniSTS
GeneMap99-G3 RH Map91535.0UniSTS
STS-U32324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,661,509 - 34,661,630UniSTSGRCh37
Build 36934,651,509 - 34,651,630RGDNCBI36
Celera934,592,980 - 34,593,101RGD
Cytogenetic Map9p13UniSTS
HuRef934,615,791 - 34,615,912UniSTS
GeneMap99-GB4 RH Map9137.45UniSTS
NCBI RH Map9447.9UniSTS
MARC_7064-7065:996687499:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,658,635 - 34,659,853UniSTSGRCh37
Build 36934,648,635 - 34,649,853RGDNCBI36
Celera934,590,106 - 34,591,324RGD
HuRef934,612,917 - 34,614,135UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4712
Count of miRNA genes:1063
Interacting mature miRNAs:1321
Transcripts:ENST00000318041, ENST00000378817, ENST00000441545, ENST00000466082, ENST00000478308, ENST00000478802, ENST00000553620, ENST00000553969, ENST00000555003, ENST00000555247, ENST00000555579, ENST00000555981, ENST00000556531, ENST00000556792, ENST00000557298, ENST00000602473
Prediction methods:Microtar, 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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2157 2343 1448 463 823 305 3537 1519 2722 128 1244 1322 162 1 1128 2247 3
Low 279 648 278 161 1117 160 814 678 1009 291 211 288 12 76 541 3 2
Below cutoff 3 10 6 2 4 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI377039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA917660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC424068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z38102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z46595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z46596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318041   ⟹   ENSP00000326500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,653,935 - 34,661,892 (+)Ensembl
RefSeq Acc Id: ENST00000441545   ⟹   ENSP00000394391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,652,185 - 34,661,902 (+)Ensembl
RefSeq Acc Id: ENST00000466082   ⟹   ENSP00000432263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,659,886 - 34,661,655 (+)Ensembl
RefSeq Acc Id: ENST00000478308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,653,942 - 34,656,820 (+)Ensembl
RefSeq Acc Id: ENST00000478802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,655,218 - 34,657,517 (+)Ensembl
RefSeq Acc Id: ENST00000553620   ⟹   ENSP00000452207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,652,200 - 34,658,561 (+)Ensembl
RefSeq Acc Id: ENST00000553969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,655,412 - 34,656,950 (+)Ensembl
RefSeq Acc Id: ENST00000555003   ⟹   ENSP00000450565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,650,702 - 34,661,881 (+)Ensembl
RefSeq Acc Id: ENST00000555247   ⟹   ENSP00000450707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,652,162 - 34,661,887 (+)Ensembl
RefSeq Acc Id: ENST00000555579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,655,131 - 34,655,937 (+)Ensembl
RefSeq Acc Id: ENST00000555981   ⟹   ENSP00000450640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,655,084 - 34,658,683 (+)Ensembl
RefSeq Acc Id: ENST00000556531   ⟹   ENSP00000451447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,655,035 - 34,657,442 (+)Ensembl
RefSeq Acc Id: ENST00000556792   ⟹   ENSP00000450543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,653,864 - 34,657,122 (+)Ensembl
RefSeq Acc Id: ENST00000557298   ⟹   ENSP00000451553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,653,946 - 34,661,850 (+)Ensembl
RefSeq Acc Id: ENST00000602473   ⟹   ENSP00000473647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,655,218 - 34,660,819 (+)Ensembl
RefSeq Acc Id: NM_001142784   ⟹   NP_001136256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,652,185 - 34,661,902 (+)NCBI
GRCh37934,652,182 - 34,661,899 (+)NCBI
HuRef934,606,462 - 34,616,181 (+)NCBI
CHM1_1934,651,965 - 34,661,682 (+)NCBI
Sequence:
RefSeq Acc Id: NR_052010
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,653,913 - 34,661,902 (+)NCBI
HuRef934,606,462 - 34,616,181 (+)NCBI
CHM1_1934,653,677 - 34,661,682 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001136256   ⟸   NM_001142784
- Peptide Label: precursor
- UniProtKB: Q14626 (UniProtKB/Swiss-Prot),   Q5VZ79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000450640   ⟸   ENST00000555981
RefSeq Acc Id: ENSP00000450565   ⟸   ENST00000555003
RefSeq Acc Id: ENSP00000450707   ⟸   ENST00000555247
RefSeq Acc Id: ENSP00000450543   ⟸   ENST00000556792
RefSeq Acc Id: ENSP00000451447   ⟸   ENST00000556531
RefSeq Acc Id: ENSP00000451553   ⟸   ENST00000557298
RefSeq Acc Id: ENSP00000432263   ⟸   ENST00000466082
RefSeq Acc Id: ENSP00000394391   ⟸   ENST00000441545
RefSeq Acc Id: ENSP00000473647   ⟸   ENST00000602473
RefSeq Acc Id: ENSP00000452207   ⟸   ENST00000553620
RefSeq Acc Id: ENSP00000326500   ⟸   ENST00000318041
Promoters
RGD ID:6807791
Promoter ID:HG_KWN:63025
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001142784,   UC003ZVI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,641,126 - 34,642,217 (+)MPROMDB
RGD ID:6807787
Promoter ID:HG_KWN:63026
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_004512,   NM_147162,   OTTHUMT00000052241,   UC003ZVL.1,   UC010MKE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,643,236 - 34,644,077 (+)MPROMDB
RGD ID:6807790
Promoter ID:HG_KWN:63027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052242
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,644,541 - 34,645,542 (+)MPROMDB
RGD ID:7214935
Promoter ID:EPDNEW_H13213
Type:initiation region
Name:IL11RA_4
Description:interleukin 11 receptor subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13214  EPDNEW_H13215  EPDNEW_H13216  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,648,144 - 34,648,204EPDNEW
RGD ID:6807789
Promoter ID:HG_KWN:63028
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000052243
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,649,491 - 34,649,991 (+)MPROMDB
RGD ID:7214937
Promoter ID:EPDNEW_H13214
Type:initiation region
Name:IL11RA_1
Description:interleukin 11 receptor subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13213  EPDNEW_H13215  EPDNEW_H13216  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,652,185 - 34,652,245EPDNEW
RGD ID:7214939
Promoter ID:EPDNEW_H13215
Type:initiation region
Name:IL11RA_2
Description:interleukin 11 receptor subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13213  EPDNEW_H13214  EPDNEW_H13216  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,653,915 - 34,653,975EPDNEW
RGD ID:7214941
Promoter ID:EPDNEW_H13216
Type:initiation region
Name:IL11RA_3
Description:interleukin 11 receptor subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13213  EPDNEW_H13214  EPDNEW_H13215  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,655,193 - 34,655,253EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
IL11RA, 9-BP DUP, NT916 duplication Craniosynostosis and dental anomalies [RCV000023051] Chr9:9p13 pathogenic
NM_001142784.2(IL11RA):c.886C>T (p.Arg296Trp) single nucleotide variant Craniosynostosis and dental anomalies [RCV000023047] Chr9:34659834 [GRCh38]
Chr9:34659831 [GRCh37]
Chr9:9p13.3
pathogenic
NM_001142784.2(IL11RA):c.662C>G (p.Pro221Arg) single nucleotide variant Craniosynostosis and dental anomalies [RCV000023048] Chr9:34658535 [GRCh38]
Chr9:34658532 [GRCh37]
Chr9:9p13.3
pathogenic
NM_001142784.2(IL11RA):c.734C>G (p.Ser245Cys) single nucleotide variant Craniosynostosis and dental anomalies [RCV000023049] Chr9:34658607 [GRCh38]
Chr9:34658604 [GRCh37]
Chr9:9p13.3
pathogenic
NM_001142784.2(IL11RA):c.475C>T (p.Gln159Ter) single nucleotide variant Craniosynostosis and dental anomalies [RCV000023050] Chr9:34657331 [GRCh38]
Chr9:34657328 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001142784.2(IL11RA):c.547C>T (p.His183Tyr) single nucleotide variant Malignant melanoma [RCV000061932] Chr9:34657488 [GRCh38]
Chr9:34657485 [GRCh37]
Chr9:34647485 [NCBI36]
Chr9:9p13.3
not provided
NM_001142784.2(IL11RA):c.727C>A (p.Pro243Thr) single nucleotide variant not provided [RCV000657982] Chr9:34658600 [GRCh38]
Chr9:34658597 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000087307] Chr9:34645704..34650749 [GRCh38]
Chr9:34645701..34650746 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001142784.3(IL11RA):c.811-194T>C single nucleotide variant not provided [RCV001567751] Chr9:34659565 [GRCh38]
Chr9:34659562 [GRCh37]
Chr9:9p13.3
likely benign
NM_001142784.3(IL11RA):c.1-223GT[13] microsatellite not provided [RCV001546091] Chr9:34654994..34654995 [GRCh38]
Chr9:34654991..34654992 [GRCh37]
Chr9:9p13.3
likely benign
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001142784.2(IL11RA):c.128C>T (p.Ser43Phe) single nucleotide variant not provided [RCV000963231]|not specified [RCV000455775] Chr9:34655632 [GRCh38]
Chr9:34655629 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_001142784.2(IL11RA):c.532G>T (p.Ala178Ser) single nucleotide variant not specified [RCV000503378] Chr9:34657473 [GRCh38]
Chr9:34657470 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001142784.2(IL11RA):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV000895876]|not specified [RCV000501926] Chr9:34655289 [GRCh38]
Chr9:34655286 [GRCh37]
Chr9:9p13.3
benign|likely benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001142784.2(IL11RA):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000585085] Chr9:34655220 [GRCh38]
Chr9:34655217 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_001142784.2(IL11RA):c.331+2T>C single nucleotide variant Craniosynostosis and dental anomalies [RCV000625861] Chr9:34656910 [GRCh38]
Chr9:34656907 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001142784.2(IL11RA):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV000657983] Chr9:34657050 [GRCh38]
Chr9:34657047 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001142784.3(IL11RA):c.692G>A (p.Gly231Asp) single nucleotide variant not provided [RCV000906303] Chr9:34658565 [GRCh38]
Chr9:34658562 [GRCh37]
Chr9:9p13.3
benign
NM_001142784.3(IL11RA):c.366A>G (p.Ala122=) single nucleotide variant not provided [RCV000904551] Chr9:34657069 [GRCh38]
Chr9:34657066 [GRCh37]
Chr9:9p13.3
likely benign
NM_001142784.3(IL11RA):c.1252+9G>A single nucleotide variant not provided [RCV000969895] Chr9:34660945 [GRCh38]
Chr9:34660942 [GRCh37]
Chr9:9p13.3
likely benign
NM_001142784.3(IL11RA):c.162-8A>C single nucleotide variant not provided [RCV000967124] Chr9:34656731 [GRCh38]
Chr9:34656728 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001142784.3(IL11RA):c.535C>T (p.Arg179Cys) single nucleotide variant not provided [RCV000923635] Chr9:34657476 [GRCh38]
Chr9:34657473 [GRCh37]
Chr9:9p13.3
benign
NM_001142784.3(IL11RA):c.193C>A (p.Pro65Thr) single nucleotide variant not provided [RCV000885902] Chr9:34656770 [GRCh38]
Chr9:34656767 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_001142784.2(IL11RA):c.343C>T (p.Arg115Cys) single nucleotide variant Craniosynostosis syndrome [RCV000985275] Chr9:34657046 [GRCh38]
Chr9:34657043 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_001142784.3(IL11RA):c.953-69C>T single nucleotide variant not provided [RCV001574673] Chr9:34660205 [GRCh38]
Chr9:34660202 [GRCh37]
Chr9:9p13.3
likely benign
NM_001142784.3(IL11RA):c.723A>G (p.Thr241=) single nucleotide variant not provided [RCV000888248] Chr9:34658596 [GRCh38]
Chr9:34658593 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_001142784.3(IL11RA):c.866A>G (p.His289Arg) single nucleotide variant not provided [RCV001578181] Chr9:34659814 [GRCh38]
Chr9:34659811 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_001142784.3(IL11RA):c.100+122T>C single nucleotide variant not provided [RCV001536139] Chr9:34655439 [GRCh38]
Chr9:34655436 [GRCh37]
Chr9:9p13.3
benign
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys) single nucleotide variant Craniosynostosis and dental anomalies [RCV001263205] Chr9:34658654 [GRCh38]
Chr9:34658651 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe) single nucleotide variant Craniosynostosis and dental anomalies [RCV001263206] Chr9:34656858 [GRCh38]
Chr9:34656855 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NC_000009.11:g.(?_34458994)_(35072710_?)dup duplication Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001346193]|Distal spinal muscular atrophy, autosomal recessive 2 [RCV001374141] Chr9:34458994..35072710 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3
pathogenic
NM_001142784.3(IL11RA):c.709C>T (p.Arg237Ter) single nucleotide variant not provided [RCV001388063] Chr9:34658582 [GRCh38]
Chr9:34658579 [GRCh37]
Chr9:9p13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5967 AgrOrtholog
COSMIC IL11RA COSMIC
Ensembl Genes ENSG00000137070 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326500 UniProtKB/Swiss-Prot
  ENSP00000394391 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432263 UniProtKB/TrEMBL
  ENSP00000450543 UniProtKB/TrEMBL
  ENSP00000450565 UniProtKB/Swiss-Prot
  ENSP00000450640 UniProtKB/TrEMBL
  ENSP00000450707 UniProtKB/TrEMBL
  ENSP00000451447 UniProtKB/TrEMBL
  ENSP00000451553 UniProtKB/TrEMBL
  ENSP00000452207 UniProtKB/TrEMBL
  ENSP00000473647 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318041 UniProtKB/Swiss-Prot
  ENST00000441545 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466082 UniProtKB/TrEMBL
  ENST00000553620 UniProtKB/TrEMBL
  ENST00000555003 UniProtKB/Swiss-Prot
  ENST00000555247 UniProtKB/TrEMBL
  ENST00000555981 UniProtKB/TrEMBL
  ENST00000556531 UniProtKB/TrEMBL
  ENST00000556792 UniProtKB/TrEMBL
  ENST00000557298 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000602473 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137070 GTEx
HGNC ID HGNC:5967 ENTREZGENE
Human Proteome Map IL11RA Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hematopoietin_rcpt_L_F3_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3590 ENTREZGENE
OMIM 600939 OMIM
  614188 OMIM
PharmGKB PA29782 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_L_F3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G3V2A5_HUMAN UniProtKB/TrEMBL
  G3V2G0_HUMAN UniProtKB/TrEMBL
  G3V2J5_HUMAN UniProtKB/TrEMBL
  G3V3V2_HUMAN UniProtKB/TrEMBL
  G3V428_HUMAN UniProtKB/TrEMBL
  G3V571_HUMAN UniProtKB/TrEMBL
  H0YCS8_HUMAN UniProtKB/TrEMBL
  I11RA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VZ79 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q16542 UniProtKB/Swiss-Prot
  Q5VZ80 UniProtKB/Swiss-Prot
  Q7KYJ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 IL11RA  interleukin 11 receptor subunit alpha    interleukin 11 receptor, alpha  Symbol and/or name change 5135510 APPROVED