SP110 (SP110 nuclear body protein) - Rat Genome Database

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Gene: SP110 (SP110 nuclear body protein) Homo sapiens
Analyze
Symbol: SP110
Name: SP110 nuclear body protein
RGD ID: 1320919
HGNC Page HGNC
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of apoptotic process and response to bacterium. Located in nucleoplasm. Implicated in hepatic venoocclusive disease with immunodeficiency and tuberculosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ22835; IFI41; IFI75; interferon-induced protein 41, 30kD; interferon-induced protein 41/75; interferon-induced protein 75, 52kD; IPR1; phosphoprotein 41; phosphoprotein 75; speckled 110 kDa; transcriptional coactivator Sp110; VODI
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 Ensembl2230,165,186 - 230,225,729 (-)EnsemblGRCh38hg38GRCh38
GRCh382230,165,186 - 230,225,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372231,029,902 - 231,090,351 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362230,741,896 - 230,792,932 (-)NCBINCBI36hg18NCBI36
Build 342230,859,156 - 230,910,193NCBI
Celera2224,809,754 - 224,866,568 (-)NCBI
Cytogenetic Map2q37.1NCBI
HuRef2222,873,680 - 222,930,491 (-)NCBIHuRef
CHM1_12231,039,478 - 231,096,297 (-)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

Biological Process

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Function

References

Additional References at PubMed
PMID:7693701   PMID:10388521   PMID:10913195   PMID:12477932   PMID:12539042   PMID:14559998   PMID:15063762   PMID:15308735   PMID:15489334   PMID:16169070   PMID:16344560   PMID:16648851  
PMID:16803959   PMID:16816019   PMID:16960008   PMID:17149599   PMID:17287948   PMID:17510920   PMID:17883869   PMID:18029348   PMID:18187620   PMID:18239623   PMID:18758461   PMID:19274049  
PMID:20196868   PMID:20211142   PMID:20301448   PMID:20331378   PMID:20332261   PMID:20353833   PMID:21033425   PMID:21222611   PMID:21397050   PMID:21536091   PMID:21873635   PMID:21900206  
PMID:22522001   PMID:22621957   PMID:22691368   PMID:22700719   PMID:23129390   PMID:23251661   PMID:23770605   PMID:24292274   PMID:24981860   PMID:25006821   PMID:25612917   PMID:25925205  
PMID:25980612   PMID:26496610   PMID:27623071   PMID:27858493   PMID:29046350   PMID:29430075   PMID:29507755   PMID:29509190   PMID:29656893   PMID:30627224   PMID:30804502   PMID:31721003  
PMID:31753913  


Genomics

Comparative Map Data
SP110
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2230,165,186 - 230,225,729 (-)EnsemblGRCh38hg38GRCh38
GRCh382230,165,186 - 230,225,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372231,029,902 - 231,090,351 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362230,741,896 - 230,792,932 (-)NCBINCBI36hg18NCBI36
Build 342230,859,156 - 230,910,193NCBI
Celera2224,809,754 - 224,866,568 (-)NCBI
Cytogenetic Map2q37.1NCBI
HuRef2222,873,680 - 222,930,491 (-)NCBIHuRef
CHM1_12231,039,478 - 231,096,297 (-)NCBICHM1_1
Sp110
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39185,498,462 - 85,538,571 (-)NCBIGRCm39mm39
GRCm39 Ensembl185,504,620 - 85,526,538 (-)Ensembl
GRCm38185,570,735 - 85,610,850 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl185,576,899 - 85,598,817 (-)EnsemblGRCm38mm10GRCm38
MGSCv37187,473,474 - 87,500,466 (-)NCBIGRCm37mm9NCBIm37
MGSCv36187,408,070 - 87,429,975 (-)NCBImm8
Cytogenetic Map1C5NCBI
Sp110
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2986,200,503 - 86,225,355 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl992,593,910 - 92,616,165 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0992,593,909 - 92,618,867 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0992,324,921 - 92,349,627 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4984,258,232 - 84,279,462 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1984,441,652 - 84,462,881 (-)NCBI
Celera983,624,105 - 83,646,362 (-)NCBICelera
Cytogenetic Map9q35NCBI
Sp110
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554534,915,541 - 4,939,438 (+)NCBIChiLan1.0ChiLan1.0
SP110
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B236,221,026 - 236,273,917 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B236,221,833 - 236,275,562 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B117,417,230 - 117,472,246 (-)NCBIMhudiblu_PPA_v0panPan3
SP110
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12542,418,565 - 42,459,098 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2542,419,980 - 42,459,051 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2543,043,085 - 43,084,557 (-)NCBI
ROS_Cfam_1.02542,674,227 - 42,715,740 (-)NCBI
UMICH_Zoey_3.12542,604,301 - 42,645,746 (-)NCBI
UNSW_CanFamBas_1.02542,445,973 - 42,487,547 (-)NCBI
UU_Cfam_GSD_1.02542,601,276 - 42,643,009 (-)NCBI
Sp110
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303184,603,308 - 184,622,685 (-)NCBI
SpeTri2.0NW_0049365256,317,004 - 6,336,413 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SP110
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15131,169,917 - 131,226,714 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115131,169,911 - 131,226,543 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215144,854,882 - 144,909,261 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SP110
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110116,214,449 - 116,257,531 (-)NCBI
Vero_WHO_p1.0NW_02366604083,203,477 - 83,254,446 (+)NCBI
Sp110
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248433,894,200 - 3,919,417 (-)NCBI

Position Markers
G09664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,063,627 - 231,063,907UniSTSGRCh37
Build 362230,771,871 - 230,772,151RGDNCBI36
Celera2224,839,752 - 224,840,032RGD
Cytogenetic Map2q37.1UniSTS
HuRef2222,903,673 - 222,903,953UniSTS
SHGC-85063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,086,076 - 231,086,390UniSTSGRCh37
Build 362230,794,320 - 230,794,634RGDNCBI36
Celera2224,862,200 - 224,862,514RGD
Cytogenetic Map2q37.1UniSTS
HuRef2222,926,123 - 222,926,437UniSTS
TNG Radiation Hybrid Map2128588.0UniSTS
SGC32635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,041,231 - 231,041,359UniSTSGRCh37
Build 362230,749,475 - 230,749,603RGDNCBI36
Celera2224,817,354 - 224,817,482RGD
Cytogenetic Map2q37.1UniSTS
HuRef2222,881,279 - 222,881,407UniSTS
GeneMap99-GB4 RH Map2708.98UniSTS
Whitehead-RH Map21054.9UniSTS
NCBI RH Map21867.9UniSTS
RH78723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,077,538 - 231,077,672UniSTSGRCh37
Build 362230,785,782 - 230,785,916RGDNCBI36
Celera2224,853,663 - 224,853,797RGD
Cytogenetic Map2q37.1UniSTS
HuRef2222,917,585 - 222,917,719UniSTS
NCBI RH Map21876.0UniSTS
RH45567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,033,709 - 231,033,904UniSTSGRCh37
Build 362230,741,953 - 230,742,148RGDNCBI36
Celera2224,809,832 - 224,810,027RGD
Cytogenetic Map2q37.1UniSTS
HuRef2222,873,758 - 222,873,953UniSTS
GeneMap99-GB4 RH Map2709.39UniSTS
NCBI RH Map21867.9UniSTS
RH66657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372231,041,320 - 231,042,314UniSTSGRCh37
Celera2224,817,443 - 224,818,437UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2222,881,368 - 222,882,362UniSTS
GeneMap99-GB4 RH Map2709.39UniSTS
NCBI RH Map21867.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2758
Count of miRNA genes:826
Interacting mature miRNAs:985
Transcripts:ENST00000258381, ENST00000258382, ENST00000338556, ENST00000358662, ENST00000392048, ENST00000409815, ENST00000416610, ENST00000455674, ENST00000462232, ENST00000463022, ENST00000477068, ENST00000480916, ENST00000483067, ENST00000486146, ENST00000489597, ENST00000490880, ENST00000540870
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 656 1728 428 84 1716 33 1917 207 725 105 678 965 51 998 1208
Low 1772 1262 1294 537 229 429 2401 1983 2976 313 771 599 122 1 206 1580 5 2
Below cutoff 11 1 2 1 6 1 38 7 23 1 7 24 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF280094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF280095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH015072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL579921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG231996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA432211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA958469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB474530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ269346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ269347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ269348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L22343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW972055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW972056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW972057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258381   ⟹   ENSP00000258381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,168,918 - 230,219,950 (-)Ensembl
RefSeq Acc Id: ENST00000258382   ⟹   ENSP00000258382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,176,475 - 230,220,112 (-)Ensembl
RefSeq Acc Id: ENST00000358662   ⟹   ENSP00000351488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,168,936 - 230,219,951 (-)Ensembl
RefSeq Acc Id: ENST00000392048   ⟹   ENSP00000375902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,176,473 - 230,219,973 (-)Ensembl
RefSeq Acc Id: ENST00000409815   ⟹   ENSP00000387172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,212,349 - 230,219,902 (-)Ensembl
RefSeq Acc Id: ENST00000455674   ⟹   ENSP00000393992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,212,396 - 230,219,961 (-)Ensembl
RefSeq Acc Id: ENST00000462232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,212,416 - 230,219,989 (-)Ensembl
RefSeq Acc Id: ENST00000463022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,169,128 - 230,170,915 (-)Ensembl
RefSeq Acc Id: ENST00000477068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,167,293 - 230,173,514 (-)Ensembl
RefSeq Acc Id: ENST00000480916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,168,918 - 230,171,616 (-)Ensembl
RefSeq Acc Id: ENST00000483067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,168,932 - 230,172,312 (-)Ensembl
RefSeq Acc Id: ENST00000486146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,202,933 - 230,212,905 (-)Ensembl
RefSeq Acc Id: ENST00000489597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,177,366 - 230,178,257 (-)Ensembl
RefSeq Acc Id: ENST00000490880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,200,468 - 230,211,547 (-)Ensembl
RefSeq Acc Id: ENST00000540870   ⟹   ENSP00000439558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2230,176,559 - 230,225,729 (-)Ensembl
RefSeq Acc Id: NM_001185015   ⟹   NP_001171944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,176,475 - 230,225,636 (-)NCBI
GRCh372231,033,634 - 231,090,444 (-)NCBI
HuRef2222,873,680 - 222,930,491 (-)ENTREZGENE
CHM1_12231,047,045 - 231,096,297 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378442   ⟹   NP_001365371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,225,636 (-)NCBI
RefSeq Acc Id: NM_001378443   ⟹   NP_001365372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,219,984 (-)NCBI
RefSeq Acc Id: NM_001378444   ⟹   NP_001365373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,225,636 (-)NCBI
RefSeq Acc Id: NM_001378445   ⟹   NP_001365374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,225,636 (-)NCBI
RefSeq Acc Id: NM_001378446   ⟹   NP_001365375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,225,636 (-)NCBI
RefSeq Acc Id: NM_001378447   ⟹   NP_001365376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,176,475 - 230,219,984 (-)NCBI
RefSeq Acc Id: NM_004509   ⟹   NP_004500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,219,984 (-)NCBI
GRCh372231,033,634 - 231,090,444 (-)NCBI
Build 362230,741,896 - 230,792,932 (-)NCBI Archive
HuRef2222,873,680 - 222,930,491 (-)ENTREZGENE
CHM1_12231,039,478 - 231,090,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004510   ⟹   NP_004501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,176,475 - 230,219,984 (-)NCBI
GRCh372231,033,634 - 231,090,444 (-)ENTREZGENE
Build 362230,749,433 - 230,792,932 (-)NCBI Archive
HuRef2222,873,680 - 222,930,491 (-)ENTREZGENE
CHM1_12231,047,045 - 231,090,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080424   ⟹   NP_536349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,186 - 230,219,984 (-)NCBI
GRCh372231,033,634 - 231,090,444 (-)ENTREZGENE
GRCh372231,033,634 - 231,090,444 (-)NCBI
Build 362230,741,896 - 230,792,932 (-)NCBI Archive
HuRef2222,873,680 - 222,930,491 (-)ENTREZGENE
CHM1_12231,039,478 - 231,090,682 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511090   ⟹   XP_011509392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,168,930 - 230,225,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511091   ⟹   XP_011509393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,473 - 230,225,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511092   ⟹   XP_011509394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,168,930 - 230,219,989 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003968   ⟹   XP_016859457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,168,930 - 230,225,626 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003969   ⟹   XP_016859458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,176,473 - 230,225,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452850   ⟹   XP_024308618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,165,473 - 230,225,729 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171944 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365371 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365372 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365373 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365374 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365375 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365376 (Get FASTA)   NCBI Sequence Viewer  
  NP_004500 (Get FASTA)   NCBI Sequence Viewer  
  NP_004501 (Get FASTA)   NCBI Sequence Viewer  
  NP_536349 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509392 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509393 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509394 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859457 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859458 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308618 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD13402 (Get FASTA)   NCBI Sequence Viewer  
  AAF99318 (Get FASTA)   NCBI Sequence Viewer  
  AAG09826 (Get FASTA)   NCBI Sequence Viewer  
  AAH12447 (Get FASTA)   NCBI Sequence Viewer  
  AAH19059 (Get FASTA)   NCBI Sequence Viewer  
  AAX93281 (Get FASTA)   NCBI Sequence Viewer  
  AAZ23281 (Get FASTA)   NCBI Sequence Viewer  
  AAZ23282 (Get FASTA)   NCBI Sequence Viewer  
  AAZ23283 (Get FASTA)   NCBI Sequence Viewer  
  AAZ23284 (Get FASTA)   NCBI Sequence Viewer  
  AAZ23285 (Get FASTA)   NCBI Sequence Viewer  
  AEK50372 (Get FASTA)   NCBI Sequence Viewer  
  AEK50373 (Get FASTA)   NCBI Sequence Viewer  
  AEK50374 (Get FASTA)   NCBI Sequence Viewer  
  BAG62696 (Get FASTA)   NCBI Sequence Viewer  
  EAW70915 (Get FASTA)   NCBI Sequence Viewer  
  EAW70916 (Get FASTA)   NCBI Sequence Viewer  
  EAW70917 (Get FASTA)   NCBI Sequence Viewer  
  EAW70918 (Get FASTA)   NCBI Sequence Viewer  
  EAW70919 (Get FASTA)   NCBI Sequence Viewer  
  Q9HB58 (Get FASTA)   NCBI Sequence Viewer  
  QWO78808 (Get FASTA)   NCBI Sequence Viewer  
  QWO78809 (Get FASTA)   NCBI Sequence Viewer  
  QWO78810 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_004500   ⟸   NM_004509
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_536349   ⟸   NM_080424
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001171944   ⟸   NM_001185015
- Peptide Label: isoform d
- UniProtKB: Q9HB58 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004501   ⟸   NM_004510
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: XP_011509392   ⟸   XM_011511090
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509393   ⟸   XM_011511091
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011509394   ⟸   XM_011511092
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016859457   ⟸   XM_017003968
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859458   ⟸   XM_017003969
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_024308618   ⟸   XM_024452850
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001365375   ⟸   NM_001378446
- Peptide Label: isoform i
RefSeq Acc Id: NP_001365374   ⟸   NM_001378445
- Peptide Label: isoform h
RefSeq Acc Id: NP_001365371   ⟸   NM_001378442
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001365373   ⟸   NM_001378444
- Peptide Label: isoform g
RefSeq Acc Id: NP_001365372   ⟸   NM_001378443
- Peptide Label: isoform f
RefSeq Acc Id: NP_001365376   ⟸   NM_001378447
- Peptide Label: isoform j
RefSeq Acc Id: ENSP00000258382   ⟸   ENST00000258382
RefSeq Acc Id: ENSP00000258381   ⟸   ENST00000258381
RefSeq Acc Id: ENSP00000393992   ⟸   ENST00000455674
RefSeq Acc Id: ENSP00000375902   ⟸   ENST00000392048
RefSeq Acc Id: ENSP00000387172   ⟸   ENST00000409815
RefSeq Acc Id: ENSP00000351488   ⟸   ENST00000358662
RefSeq Acc Id: ENSP00000439558   ⟸   ENST00000540870
Protein Domains
Bromo   HSR   SAND

Promoters
RGD ID:6863036
Promoter ID:EPDNEW_H4683
Type:initiation region
Name:SP110_1
Description:SP110 nuclear body protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4684  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,219,975 - 230,220,035EPDNEW
RGD ID:6863038
Promoter ID:EPDNEW_H4684
Type:initiation region
Name:SP110_2
Description:SP110 nuclear body protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,220,114 - 230,220,174EPDNEW
RGD ID:6798233
Promoter ID:HG_KWN:37611
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000332549
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,743,161 - 230,743,661 (-)MPROMDB
RGD ID:6798236
Promoter ID:HG_KWN:37612
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000332550,   OTTHUMT00000332551
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,744,891 - 230,745,632 (-)MPROMDB
RGD ID:6797239
Promoter ID:HG_KWN:37614
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000392047
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,745,846 - 230,747,272 (-)MPROMDB
RGD ID:6798235
Promoter ID:HG_KWN:37615
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000332548
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,750,671 - 230,751,171 (-)MPROMDB
RGD ID:6798237
Promoter ID:HG_KWN:37617
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010FXJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,780,556 - 230,781,582 (-)MPROMDB
RGD ID:6798234
Promoter ID:HG_KWN:37618
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000332547
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,784,016 - 230,784,732 (-)MPROMDB
RGD ID:6798232
Promoter ID:HG_KWN:37619
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000332546
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,785,801 - 230,786,842 (-)MPROMDB
RGD ID:6798238
Promoter ID:HG_KWN:37620
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338556,   ENST00000392048,   NM_004509,   NM_004510,   OTTHUMT00000332413,   OTTHUMT00000332543,   OTTHUMT00000332544,   OTTHUMT00000332545,   UC010FXK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,792,766 - 230,793,266 (-)MPROMDB
RGD ID:6798251
Promoter ID:HG_KWN:37621
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000343805,   ENST00000350136,   ENST00000392044,   NM_001185015,   NM_007237,   OTTHUMT00000332016,   OTTHUMT00000332017,   OTTHUMT00000332021,   OTTHUMT00000332542,   UC002VQK.1,   UC002VQN.1,   UC010FXL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362230,797,516 - 230,799,317 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004509.4(SP110):c.583+8A>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000542719]|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001280999] Chr2:230212753 [GRCh38]
Chr2:231077468 [GRCh37]
Chr2:2q37.1
benign|uncertain significance
NM_004509.4(SP110):c.423A>G (p.Pro141=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001485635]|not provided [RCV000549175] Chr2:230212921 [GRCh38]
Chr2:231077636 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.642del (p.Ser215fs) deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000005875] Chr2:230212372 [GRCh38]
Chr2:231077087 [GRCh37]
Chr2:2q37.1
pathogenic
NM_004509.4(SP110):c.40del (p.Gln14fs) deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000005876] Chr2:230216888 [GRCh38]
Chr2:231081603 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001517855]|Mycobacterium tuberculosis, susceptibility to [RCV000005877]|not specified [RCV000455916] Chr2:230185999 [GRCh38]
Chr2:231050715 [GRCh37]
Chr2:2q37.1
risk factor|benign|uncertain significance
NM_004509.4(SP110):c.752-483C>T single nucleotide variant Mycobacterium tuberculosis, susceptibility to [RCV000005878] Chr2:230210491 [GRCh38]
Chr2:231075206 [GRCh37]
Chr2:2q37.1
risk factor|uncertain significance
NM_080424.4(SP110):c.342_346del (p.Ser114fs) microsatellite Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000778598] Chr2:230212998..230213002 [GRCh38]
Chr2:231077713..231077717 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.522C>T (p.Pro174=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000525137] Chr2:230212822 [GRCh38]
Chr2:231077537 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_004509.4(SP110):c.319_325dup (p.Ser109fs) duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055974] Chr2:230213018..230213019 [GRCh38]
Chr2:231077733..231077734 [GRCh37]
Chr2:2q37.1
pathogenic
NM_004509.4(SP110):c.373del (p.Thr125fs) deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055975] Chr2:230212971 [GRCh38]
Chr2:231077686 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.2(SP110):c.667+1dup duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055978] Chr2:230212345..230212346 [GRCh38]
Chr2:231077060..231077061 [GRCh37]
Chr2:2q37.1
pathogenic
NM_004509.4(SP110):c.78_79delinsAT (p.Ile27Leu) indel Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000055979] Chr2:230216849..230216850 [GRCh38]
Chr2:231081564..231081565 [GRCh37]
Chr2:2q37.1
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
NM_080424.2(SP110):c.1668C>T (p.Phe556=) single nucleotide variant Malignant melanoma [RCV000065458] Chr2:230172882 [GRCh38]
Chr2:231037598 [GRCh37]
Chr2:230745842 [NCBI36]
Chr2:2q37.1
not provided
NM_080424.4(SP110):c.1631dup (p.Gln545fs) duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001333255] Chr2:230172918..230172919 [GRCh38]
Chr2:231037634..231037635 [GRCh37]
Chr2:2q37.1
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.1(chr2:230086996-230385774)x1 copy number loss See cases [RCV000134913] Chr2:230086996..230385774 [GRCh38]
Chr2:230951712..231250489 [GRCh37]
Chr2:230659956..230958733 [NCBI36]
Chr2:2q36.3-37.1
likely pathogenic|uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_080424.4(SP110):c.877A>T (p.Lys293Ter) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000169676] Chr2:230208012 [GRCh38]
Chr2:231072727 [GRCh37]
Chr2:2q37.1
likely pathogenic
NM_080424.4(SP110):c.383C>T (p.Ala128Val) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000264680]|not specified [RCV000455477] Chr2:230212961 [GRCh38]
Chr2:231077676 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.1737G>A (p.Met579Ile) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000390437]|not specified [RCV000455142] Chr2:230172144 [GRCh38]
Chr2:231036860 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_004509.4(SP110):c.376G>A (p.Gly126Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000303499] Chr2:230212968 [GRCh38]
Chr2:231077683 [GRCh37]
Chr2:2q37.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004509.4(SP110):c.1200C>T (p.Asp400=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000378214] Chr2:230186073 [GRCh38]
Chr2:231050789 [GRCh37]
Chr2:2q37.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004509.4(SP110):c.1100C>T (p.Thr367Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000324751]|not provided [RCV000224559] Chr2:230200914 [GRCh38]
Chr2:231065630 [GRCh37]
Chr2:2q37.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004509.4(SP110):c.237T>G (p.Ser79=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000360626] Chr2:230215029 [GRCh38]
Chr2:231079744 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004509.4(SP110):c.2066C>G (p.Pro689Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000284439]|not provided [RCV000997697] Chr2:230169128 [GRCh38]
Chr2:231033844 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1982T>C (p.Leu661Pro) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000285486] Chr2:230169212 [GRCh38]
Chr2:231033928 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1650T>C (p.Gly550=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000276529]|not specified [RCV000454724] Chr2:230172900 [GRCh38]
Chr2:231037616 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_004509.4(SP110):c.1464C>T (p.Cys488=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000272949] Chr2:230177664 [GRCh38]
Chr2:231042380 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_004509.4(SP110):c.550C>T (p.Pro184Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000398685] Chr2:230212794 [GRCh38]
Chr2:231077509 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1833G>C (p.Glu611Asp) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000300729] Chr2:230170744 [GRCh38]
Chr2:231035460 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.584-9C>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000315466]|not specified [RCV000455028] Chr2:230212439 [GRCh38]
Chr2:231077154 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000335389]|not specified [RCV000454767] Chr2:230207994 [GRCh38]
Chr2:231072709 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1957-7_1957-6del microsatellite Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000335840] Chr2:230169243..230169244 [GRCh38]
Chr2:231033959..231033960 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004509.4(SP110):c.1038G>C (p.Ser346=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000379395] Chr2:230202589 [GRCh38]
Chr2:231067305 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.1815+14A>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000337380]|not specified [RCV000454678] Chr2:230172052 [GRCh38]
Chr2:231036768 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_080424.4(SP110):c.*206del deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000287953] Chr2:230168918 [GRCh38]
Chr2:231033634 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.2050G>A (p.Gly684Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000339429] Chr2:230169144 [GRCh38]
Chr2:231033860 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.*82G>A single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000383012] Chr2:230169042 [GRCh38]
Chr2:231033758 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1568T>C (p.Met523Thr) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000362881]|not specified [RCV000455391] Chr2:230177560 [GRCh38]
Chr2:231042276 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.617C>T (p.Ala206Val) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000293290]|not specified [RCV000456057] Chr2:230212397 [GRCh38]
Chr2:231077112 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1591-6T>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000308233] Chr2:230172965 [GRCh38]
Chr2:231037681 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.584-10C>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000344535]|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001281000] Chr2:230212440 [GRCh38]
Chr2:231077155 [GRCh37]
Chr2:2q37.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004509.4(SP110):c.542T>G (p.Leu181Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000309546] Chr2:230212802 [GRCh38]
Chr2:231077517 [GRCh37]
Chr2:2q37.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004509.4(SP110):c.459G>A (p.Ala153=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000366556] Chr2:230212885 [GRCh38]
Chr2:231077600 [GRCh37]
Chr2:2q37.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004509.4(SP110):c.1856T>G (p.Leu619Trp) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000390103] Chr2:230170721 [GRCh38]
Chr2:231035437 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1447G>A (p.Gly483Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000328215] Chr2:230178157 [GRCh38]
Chr2:231042873 [GRCh37]
Chr2:2q37.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004509.4(SP110):c.*204A>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000328957] Chr2:230168920 [GRCh38]
Chr2:231033636 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1731C>T (p.Cys577=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000311701]|not specified [RCV000455737] Chr2:230172150 [GRCh38]
Chr2:231036866 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_004509.4(SP110):c.1706+4A>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000371104] Chr2:230172840 [GRCh38]
Chr2:231037556 [GRCh37]
Chr2:2q37.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000350537]|not specified [RCV000455434] Chr2:230212395 [GRCh38]
Chr2:231077110 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.2048G>A (p.Gly683Asp) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000395748] Chr2:230169146 [GRCh38]
Chr2:231033862 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1173G>A (p.Val391=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000264938] Chr2:230186100 [GRCh38]
Chr2:231050816 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.127A>G (p.Ile43Val) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000268064] Chr2:230216801 [GRCh38]
Chr2:231081516 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.900G>A (p.Gly300=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000280283] Chr2:230202727 [GRCh38]
Chr2:231067443 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.*206_*207insAATTAA insertion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000369702] Chr2:230168917..230168918 [GRCh38]
Chr2:231033633..231033634 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1274= (p.Leu425=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000560306] Chr2:230185999 [GRCh38]
Chr2:231050715 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1 copy number loss not specified [RCV000515677] Chr2:230411764..232019784 [GRCh37]
Chr2:2q36.3-37.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1(chr2:231012029-231089979) copy number loss Abnormality of esophagus morphology [RCV000416770] Chr2:231012029..231089979 [GRCh37]
Chr2:2q37.1
likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1
likely pathogenic
NM_004509.4(SP110):c.80T>C (p.Ile27Thr) single nucleotide variant not provided [RCV000484300] Chr2:230216848 [GRCh38]
Chr2:231081563 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_080424.4(SP110):c.334T>C (p.Trp112Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001517856]|not specified [RCV000456033] Chr2:230213010 [GRCh38]
Chr2:231077725 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
GRCh37/hg19 2q36.3-37.1(chr2:230491213-231404389)x1 copy number loss See cases [RCV000511869] Chr2:230491213..231404389 [GRCh37]
Chr2:2q36.3-37.1
likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004509.4(SP110):c.334= (p.Trp112=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000560633] Chr2:230213010 [GRCh38]
Chr2:231077725 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1591C>T (p.Arg531Trp) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642273] Chr2:230172959 [GRCh38]
Chr2:231037675 [GRCh37]
Chr2:2q37.1
uncertain significance
NC_000002.11:g.(?_231033820)_(231086456_?)dup duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642277] Chr2:231033820..231086456 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1591-9C>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000624943] Chr2:230172968 [GRCh38]
Chr2:231037684 [GRCh37]
Chr2:2q37.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004509.4(SP110):c.1555C>T (p.Arg519Cys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642275] Chr2:230177573 [GRCh38]
Chr2:231042289 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.938A>G (p.Lys313Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642274] Chr2:230202689 [GRCh38]
Chr2:231067405 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1647C>T (p.Cys549=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642276] Chr2:230172903 [GRCh38]
Chr2:231037619 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.934C>G (p.Leu312Val) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000642272] Chr2:230202693 [GRCh38]
Chr2:231067409 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_004509.4(SP110):c.1612G>A (p.Glu538Lys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000702894] Chr2:230172938 [GRCh38]
Chr2:231037654 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1448-6T>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000702023] Chr2:230177686 [GRCh38]
Chr2:231042402 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.342C>A (p.Ser114Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000709809] Chr2:230213002 [GRCh38]
Chr2:231077717 [GRCh37]
Chr2:2q37.1
not provided
NM_004509.4(SP110):c.1421T>G (p.Ile474Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000705210] Chr2:230178183 [GRCh38]
Chr2:231042899 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.86A>T (p.Lys29Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000699670] Chr2:230216842 [GRCh38]
Chr2:231081557 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.2050G>C (p.Gly684Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000700531] Chr2:230169144 [GRCh38]
Chr2:231033860 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr) indel Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000694847] Chr2:230200922..230200923 [GRCh38]
Chr2:231065638..231065639 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.929A>C (p.Lys310Thr) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000687577] Chr2:230202698 [GRCh38]
Chr2:231067414 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1395dup (p.Val466fs) duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000697004] Chr2:230178208..230178209 [GRCh38]
Chr2:231042924..231042925 [GRCh37]
Chr2:2q37.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.3-37.1(chr2:228966709-231528909)x1 copy number loss not provided [RCV000740932] Chr2:228966709..231528909 [GRCh37]
Chr2:2q36.3-37.1
pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_004509.4(SP110):c.745A>G (p.Met249Val) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000884986] Chr2:230211476 [GRCh38]
Chr2:231076191 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1934G>A (p.Arg645His) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000967632] Chr2:230170643 [GRCh38]
Chr2:231035359 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1324T>C (p.Phe442Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000884335] Chr2:230183596 [GRCh38]
Chr2:231048312 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.231C>T (p.Asn77=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001479582]|not provided [RCV000914755] Chr2:230215035 [GRCh38]
Chr2:231079750 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.2028T>C (p.Gly676=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000927591] Chr2:230169166 [GRCh38]
Chr2:231033882 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.451C>T (p.Pro151Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000898823] Chr2:230212893 [GRCh38]
Chr2:231077608 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.1902A>G (p.Ala634=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000881985] Chr2:230170675 [GRCh38]
Chr2:231035391 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.498C>T (p.Ser166=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001405088]|not provided [RCV000922033] Chr2:230212846 [GRCh38]
Chr2:231077561 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.1989A>G (p.Leu663=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001449269]|not provided [RCV000924550] Chr2:230169205 [GRCh38]
Chr2:231033921 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.978T>G (p.Thr326=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000885021] Chr2:230202649 [GRCh38]
Chr2:231067365 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.725C>T (p.Pro242Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001036887] Chr2:230211496 [GRCh38]
Chr2:231076211 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1280-10C>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001069269] Chr2:230183650 [GRCh38]
Chr2:231048366 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1601C>T (p.Ser534Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001062211] Chr2:230172949 [GRCh38]
Chr2:231037665 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1766A>T (p.His589Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001043537] Chr2:230172115 [GRCh38]
Chr2:231036831 [GRCh37]
Chr2:2q37.1
uncertain significance
NC_000002.12:g.(?_230176645)_(230177700_?)del deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001033313] Chr2:231041361..231042416 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.1225A>G (p.Met409Val) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001038377] Chr2:230186048 [GRCh38]
Chr2:231050764 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1413G>A (p.Ala471=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000884947] Chr2:230178191 [GRCh38]
Chr2:231042907 [GRCh37]
Chr2:2q37.1
benign
NM_004509.4(SP110):c.1591-4G>A single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000926637] Chr2:230172963 [GRCh38]
Chr2:231037679 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.660T>C (p.Thr220=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000945084] Chr2:230212354 [GRCh38]
Chr2:231077069 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.2046C>T (p.Asp682=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000939010] Chr2:230169148 [GRCh38]
Chr2:231033864 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.189A>G (p.Arg63=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000945288] Chr2:230215077 [GRCh38]
Chr2:231079792 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.335G>A (p.Trp112Ter) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000804309] Chr2:230213009 [GRCh38]
Chr2:231077724 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1037C>T (p.Ser346Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000817299] Chr2:230202590 [GRCh38]
Chr2:231067306 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.271C>A (p.Arg91Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000813195] Chr2:230214995 [GRCh38]
Chr2:231079710 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1256G>A (p.Cys419Tyr) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000819273] Chr2:230186017 [GRCh38]
Chr2:231050733 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.2014A>G (p.Lys672Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000807518] Chr2:230169180 [GRCh38]
Chr2:231033896 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.618G>A (p.Ala206=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000794627] Chr2:230212396 [GRCh38]
Chr2:231077111 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1883C>T (p.Thr628Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000817178] Chr2:230170694 [GRCh38]
Chr2:231035410 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.842A>G (p.Lys281Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000817545] Chr2:230208047 [GRCh38]
Chr2:231072762 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1349G>A (p.Gly450Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000794598] Chr2:230178255 [GRCh38]
Chr2:231042971 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.952G>C (p.Val318Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000819135] Chr2:230202675 [GRCh38]
Chr2:231067391 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1988A>C (p.Asp663Ala) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137431] Chr2:230170661 [GRCh38]
Chr2:231035377 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1547G>A (p.Arg516Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000801462] Chr2:230177581 [GRCh38]
Chr2:231042297 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1315A>G (p.Lys439Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000801952] Chr2:230183605 [GRCh38]
Chr2:231048321 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1301T>C (p.Ile434Thr) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000822032] Chr2:230183619 [GRCh38]
Chr2:231048335 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1379A>C (p.His460Pro) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000812769] Chr2:230178225 [GRCh38]
Chr2:231042941 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1427A>G (p.Tyr476Cys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000819144] Chr2:230178177 [GRCh38]
Chr2:231042893 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.544C>T (p.Pro182Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000803955] Chr2:230212800 [GRCh38]
Chr2:231077515 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.2020G>A (p.Val674Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000820561] Chr2:230169174 [GRCh38]
Chr2:231033890 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.518C>T (p.Ser173Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000814329] Chr2:230212826 [GRCh38]
Chr2:231077541 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1749A>C (p.Ser583=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001452553]|not provided [RCV000978139] Chr2:230172132 [GRCh38]
Chr2:231036848 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.414G>A (p.Ala138=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000920661] Chr2:230212930 [GRCh38]
Chr2:231077645 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.617C>A (p.Ala206Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001065519] Chr2:230212397 [GRCh38]
Chr2:231077112 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137430] Chr2:230170644 [GRCh38]
Chr2:231035360 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1226T>G (p.Met409Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001047011] Chr2:230186047 [GRCh38]
Chr2:231050763 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter) single nucleotide variant not provided [RCV001008696] Chr2:230186012 [GRCh38]
Chr2:231050728 [GRCh37]
Chr2:2q37.1
likely pathogenic
NM_080424.4(SP110):c.1311C>A (p.Ser437Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001245990] Chr2:230183609 [GRCh38]
Chr2:231048325 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.431C>A (p.Pro144His) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001046339] Chr2:230212913 [GRCh38]
Chr2:231077628 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.2119G>T (p.Gly707Cys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001204821] Chr2:230169147 [GRCh38]
Chr2:231033863 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.196C>T (p.His66Tyr) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001226364] Chr2:230215070 [GRCh38]
Chr2:231079785 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1469G>A (p.Arg490Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001202137] Chr2:230177659 [GRCh38]
Chr2:231042375 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1691del (p.Pro564fs) deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001247352] Chr2:230172859 [GRCh38]
Chr2:231037575 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137432] Chr2:230170664 [GRCh38]
Chr2:231035380 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1939A>G (p.Lys647Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137433] Chr2:230170710 [GRCh38]
Chr2:231035426 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1502A>G (p.Glu501Gly) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001229929] Chr2:230177626 [GRCh38]
Chr2:231042342 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.*158C>A single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142168] Chr2:230168966 [GRCh38]
Chr2:231033682 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.1056T>C (p.Ile352=) single nucleotide variant not provided [RCV000939695] Chr2:230200958 [GRCh38]
Chr2:231065674 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.1896G>A (p.Thr632=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV000923687] Chr2:230170681 [GRCh38]
Chr2:231035397 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.1395C>T (p.Pro465=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001431405]|not provided [RCV000886894] Chr2:230178209 [GRCh38]
Chr2:231042925 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.126C>T (p.Ile42=) single nucleotide variant not provided [RCV000884394] Chr2:230216802 [GRCh38]
Chr2:231081517 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.899-3C>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001245442] Chr2:230202731 [GRCh38]
Chr2:231067447 [GRCh37]
Chr2:2q37.1
uncertain significance
NC_000002.11:g.(?_231048268)_(231086456_?)dup duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001033233] Chr2:231048268..231086456 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_004509.4(SP110):c.339G>A (p.Gln113=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001438611]|not provided [RCV000935139] Chr2:230213005 [GRCh38]
Chr2:231077720 [GRCh37]
Chr2:2q37.1
likely benign
NM_004509.4(SP110):c.192G>T (p.Val64=) single nucleotide variant not provided [RCV000933978] Chr2:230215074 [GRCh38]
Chr2:231079789 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.877A>G (p.Lys293Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001065961] Chr2:230208012 [GRCh38]
Chr2:231072727 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
NM_080424.4(SP110):c.-85T>C single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142378] Chr2:230219957 [GRCh38]
Chr2:231084672 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001140414] Chr2:230183634 [GRCh38]
Chr2:231048350 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.386A>G (p.Glu129Gly) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001140526] Chr2:230212958 [GRCh38]
Chr2:231077673 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.751G>C (p.Glu251Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001212123] Chr2:230211470 [GRCh38]
Chr2:231076185 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1030C>T (p.Arg344Ter) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001042703] Chr2:230202597 [GRCh38]
Chr2:231067313 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.898+14A>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137536] Chr2:230207977 [GRCh38]
Chr2:231072692 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.848G>C (p.Cys283Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137537] Chr2:230208041 [GRCh38]
Chr2:231072756 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.829+15T>C single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137538] Chr2:230209916 [GRCh38]
Chr2:231074631 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.829+10G>A single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001137539] Chr2:230209921 [GRCh38]
Chr2:231074636 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.989C>T (p.Thr330Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142280] Chr2:230202638 [GRCh38]
Chr2:231067354 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_080424.4(SP110):c.1900G>A (p.Gly634Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054026] Chr2:230170749 [GRCh38]
Chr2:231035465 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1707-9A>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054034] Chr2:230172183 [GRCh38]
Chr2:231036899 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1227G>A (p.Met409Ile) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054402] Chr2:230186046 [GRCh38]
Chr2:231050762 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.711C>T (p.Asp237=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001139755] Chr2:230211510 [GRCh38]
Chr2:231076225 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.686dup (p.Gln231fs) duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001069727] Chr2:230211534..230211535 [GRCh38]
Chr2:231076249..231076250 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.328T>C (p.Tyr110His) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001232743] Chr2:230213016 [GRCh38]
Chr2:231077731 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.*203A>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142167] Chr2:230168921 [GRCh38]
Chr2:231033637 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1130-11A>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001142279] Chr2:230186154 [GRCh38]
Chr2:231050870 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.2014A>T (p.Lys672Ter) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001054755] Chr2:230170635 [GRCh38]
Chr2:231035351 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.370C>T (p.Pro124Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001040603] Chr2:230212974 [GRCh38]
Chr2:231077689 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.185C>T (p.Ser62Phe) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001056260] Chr2:230215081 [GRCh38]
Chr2:231079796 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.2098G>A (p.Gly700Ser) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001233573] Chr2:230169168 [GRCh38]
Chr2:231033884 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.209C>T (p.Thr70Ile) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001042226] Chr2:230215057 [GRCh38]
Chr2:231079772 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.340A>G (p.Ser114Gly) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001140527] Chr2:230213004 [GRCh38]
Chr2:231077719 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.293C>T (p.Thr98Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001294777] Chr2:230214973 [GRCh38]
Chr2:231079688 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_080424.4(SP110):c.271C>T (p.Arg91Cys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001327522] Chr2:230214995 [GRCh38]
Chr2:231079710 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.718G>C (p.Glu240Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001333256] Chr2:230211503 [GRCh38]
Chr2:231076218 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.848G>T (p.Cys283Phe) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001317992] Chr2:230208041 [GRCh38]
Chr2:231072756 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1602G>T (p.Ser534=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001415178] Chr2:230172948 [GRCh38]
Chr2:231037664 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1031G>C (p.Arg344Pro) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001374154] Chr2:230202596 [GRCh38]
Chr2:231067312 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup) duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001280950]|Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001365812] Chr2:230202583..230202584 [GRCh38]
Chr2:231067299..231067300 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1621T>G (p.Cys541Gly) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001338483] Chr2:230172929 [GRCh38]
Chr2:231037645 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1553T>A (p.Ile518Lys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001338557] Chr2:230177575 [GRCh38]
Chr2:231042291 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.69C>T (p.Ile23=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001414498] Chr2:230216859 [GRCh38]
Chr2:231081574 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.911C>T (p.Ser304Phe) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001339035] Chr2:230202716 [GRCh38]
Chr2:231067432 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1262G>A (p.Arg421Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001364240] Chr2:230186011 [GRCh38]
Chr2:231050727 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.401A>G (p.His134Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001342022] Chr2:230212943 [GRCh38]
Chr2:231077658 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.674G>A (p.Ser225Asn) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001344803] Chr2:230211547 [GRCh38]
Chr2:231076262 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1298A>G (p.Asp433Gly) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001307421] Chr2:230183622 [GRCh38]
Chr2:231048338 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1400C>A (p.Thr467Asn) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001360614] Chr2:230178204 [GRCh38]
Chr2:231042920 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001329909] Chr2:230170758 [GRCh38]
Chr2:231035474 [GRCh37]
Chr2:2q37.1
likely pathogenic
NC_000002.11:g.(?_231033820)_(231086456_?)dup duplication Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001323165] Chr2:231033820..231086456 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1319G>A (p.Arg440Lys) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001305787] Chr2:230183601 [GRCh38]
Chr2:231048317 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1115G>A (p.Arg372Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001363195] Chr2:230200899 [GRCh38]
Chr2:231065615 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.407C>T (p.Pro136Leu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001369778] Chr2:230212937 [GRCh38]
Chr2:231077652 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1219G>C (p.Glu407Gln) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001327001] Chr2:230186054 [GRCh38]
Chr2:231050770 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1396G>A (p.Val466Met) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001322569] Chr2:230178208 [GRCh38]
Chr2:231042924 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.23T>C (p.Met8Thr) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001309233] Chr2:230216905 [GRCh38]
Chr2:231081620 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.2099G>A (p.Gly700Asp) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001325255] Chr2:230169167 [GRCh38]
Chr2:231033883 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.826A>G (p.Lys276Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001350432] Chr2:230209934 [GRCh38]
Chr2:231074649 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.2135T>G (p.Leu712Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001340128] Chr2:230169131 [GRCh38]
Chr2:231033847 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.635A>G (p.Glu212Gly) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001324880] Chr2:230212379 [GRCh38]
Chr2:231077094 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1448G>A (p.Gly483Glu) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001329908] Chr2:230177680 [GRCh38]
Chr2:231042396 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.317-9C>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001414157] Chr2:230213036 [GRCh38]
Chr2:231077751 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1899C>T (p.Tyr633=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001422024] Chr2:230170750 [GRCh38]
Chr2:231035466 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1591-18C>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001494343] Chr2:230172977 [GRCh38]
Chr2:231037693 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.338A>G (p.Gln113Arg) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001365701] Chr2:230213006 [GRCh38]
Chr2:231077721 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_080424.4(SP110):c.1706+20G>A single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001515182] Chr2:230172824 [GRCh38]
Chr2:231037540 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.1254A>G (p.Lys418=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001473546] Chr2:230186019 [GRCh38]
Chr2:231050735 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1448-8T>C single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001499823] Chr2:230177688 [GRCh38]
Chr2:231042404 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.519G>A (p.Ser173=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001511318] Chr2:230212825 [GRCh38]
Chr2:231077540 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.144C>T (p.Tyr48=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001484719] Chr2:230216784 [GRCh38]
Chr2:231081499 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1101G>A (p.Thr367=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001427862] Chr2:230200913 [GRCh38]
Chr2:231065629 [GRCh37]
Chr2:2q37.1
likely benign
NC_000002.11:g.(?_231033820)_(231086456_?)del deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001381170] Chr2:231033820..231086456 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.981T>C (p.Cys327=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001412236] Chr2:230202646 [GRCh38]
Chr2:231067362 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1713G>A (p.Leu571=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001430275] Chr2:230172168 [GRCh38]
Chr2:231036884 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1137C>T (p.Ala379=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001410090] Chr2:230186136 [GRCh38]
Chr2:231050852 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.751+9G>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001397764] Chr2:230211461 [GRCh38]
Chr2:231076176 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs) deletion Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001383491] Chr2:230200895..230200898 [GRCh38]
Chr2:231065611..231065614 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer) microsatellite Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001381849] Chr2:230178175..230178176 [GRCh38]
Chr2:231042891..231042892 [GRCh37]
Chr2:2q37.1
pathogenic
NM_080424.4(SP110):c.2112C>T (p.Ala704=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001448342] Chr2:230169154 [GRCh38]
Chr2:231033870 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1591-10G>C single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001461389] Chr2:230172969 [GRCh38]
Chr2:231037685 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.751+19A>G single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001495775] Chr2:230211451 [GRCh38]
Chr2:231076166 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1815+17C>T single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001462034] Chr2:230172049 [GRCh38]
Chr2:231036765 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.147+9T>C single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001487348] Chr2:230216772 [GRCh38]
Chr2:231081487 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.294G>A (p.Thr98=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001497657] Chr2:230214972 [GRCh38]
Chr2:231079687 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1447+13G>A single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001498299] Chr2:230178144 [GRCh38]
Chr2:231042860 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1956G>A (p.Thr652=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001518761] Chr2:230170693 [GRCh38]
Chr2:231035409 [GRCh37]
Chr2:2q37.1
benign
NM_080424.4(SP110):c.579T>C (p.Thr193=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001436332] Chr2:230212765 [GRCh38]
Chr2:231077480 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1170A>G (p.Gln390=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001430083] Chr2:230186103 [GRCh38]
Chr2:231050819 [GRCh37]
Chr2:2q37.1
likely benign
NM_080424.4(SP110):c.1485T>G (p.Thr495=) single nucleotide variant Hepatic veno-occlusive disease-immunodeficiency syndrome [RCV001466907] Chr2:230177643 [GRCh38]
Chr2:231042359 [GRCh37]
Chr2:2q37.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5401 AgrOrtholog
COSMIC SP110 COSMIC
Ensembl Genes ENSG00000135899 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000258381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000258382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000351488 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000375902 UniProtKB/TrEMBL
  ENSP00000387172 UniProtKB/TrEMBL
  ENSP00000393992 UniProtKB/TrEMBL
  ENSP00000439558 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000258382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358662 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392048 UniProtKB/TrEMBL
  ENST00000409815 UniProtKB/TrEMBL
  ENST00000455674 UniProtKB/TrEMBL
  ENST00000540870 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135899 GTEx
HGNC ID HGNC:5401 ENTREZGENE
Human Proteome Map SP110 Human Proteome Map
InterPro Bromodomain UniProtKB/Swiss-Prot
  Bromodomain-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAND-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAND_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sp110/Sp140/Sp140L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot
  Znf_PHD-finger UniProtKB/Swiss-Prot
KEGG Report hsa:3431 UniProtKB/Swiss-Prot
NCBI Gene 3431 ENTREZGENE
OMIM 235550 OMIM
  604457 OMIM
  607948 OMIM
PANTHER PTHR46386 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35104 PharmGKB
PROSITE HSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_1 UniProtKB/Swiss-Prot
  ZF_PHD_2 UniProtKB/Swiss-Prot
SMART BROMO UniProtKB/Swiss-Prot
  PHD UniProtKB/Swiss-Prot
  SAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47370 UniProtKB/Swiss-Prot
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63763 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JZQ4_HUMAN UniProtKB/TrEMBL
  E7EM70_HUMAN UniProtKB/TrEMBL
  G5E9C0_HUMAN UniProtKB/TrEMBL
  Q2I9L9_HUMAN UniProtKB/TrEMBL
  Q2I9M0_HUMAN UniProtKB/TrEMBL
  Q2I9M1_HUMAN UniProtKB/TrEMBL
  Q2I9M2_HUMAN UniProtKB/TrEMBL
  Q2I9M3_HUMAN UniProtKB/TrEMBL
  Q6PJR6_HUMAN UniProtKB/TrEMBL
  Q9HB58 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DVI4 UniProtKB/Swiss-Prot
  F5H1M1 UniProtKB/Swiss-Prot
  Q14976 UniProtKB/Swiss-Prot
  Q14977 UniProtKB/Swiss-Prot
  Q53TG2 UniProtKB/Swiss-Prot
  Q8WUZ6 UniProtKB/Swiss-Prot
  Q9HCT8 UniProtKB/Swiss-Prot