OSGIN2 (oxidative stress induced growth inhibitor family member 2) - Rat Genome Database

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Gene: OSGIN2 (oxidative stress induced growth inhibitor family member 2) Homo sapiens
Analyze
Symbol: OSGIN2
Name: oxidative stress induced growth inhibitor family member 2
RGD ID: 1314879
HGNC Page HGNC
Description: Predicted to have growth factor activity. Predicted to be involved in negative regulation of cell growth; INTERACTS WITH (+)-catechin; 2-hydroxypropanoic acid; acrolein.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8orf1; chromosome 8 open reading frame 1; hT41; oxidative stress-induced growth inhibitor 2
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 Ensembl889,901,849 - 89,927,888 (+)EnsemblGRCh38hg38GRCh38
GRCh38889,901,868 - 89,935,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37890,914,096 - 90,940,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36890,983,269 - 91,009,271 (+)NCBINCBI36hg18NCBI36
Build 34890,983,268 - 91,009,271NCBI
Celera887,108,907 - 87,134,906 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef886,124,270 - 86,150,270 (+)NCBIHuRef
CHM1_1890,955,027 - 90,981,041 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:9933573   PMID:12477932   PMID:15489334   PMID:16341674   PMID:19322201   PMID:21873635   PMID:26354767   PMID:30021884   PMID:31586073  


Genomics

Comparative Map Data
OSGIN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl889,901,849 - 89,927,888 (+)EnsemblGRCh38hg38GRCh38
GRCh38889,901,868 - 89,935,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37890,914,096 - 90,940,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36890,983,269 - 91,009,271 (+)NCBINCBI36hg18NCBI36
Build 34890,983,268 - 91,009,271NCBI
Celera887,108,907 - 87,134,906 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef886,124,270 - 86,150,270 (+)NCBIHuRef
CHM1_1890,955,027 - 90,981,041 (+)NCBICHM1_1
Osgin2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39415,996,354 - 16,015,266 (-)NCBIGRCm39mm39
GRCm39 Ensembl415,997,121 - 16,013,888 (-)Ensembl
GRCm38415,996,354 - 16,015,258 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl415,997,121 - 16,013,888 (-)EnsemblGRCm38mm10GRCm38
MGSCv37415,924,268 - 15,941,024 (-)NCBIGRCm37mm9NCBIm37
MGSCv36415,924,268 - 15,941,024 (-)NCBImm8
Celera415,800,419 - 15,817,277 (-)NCBICelera
Cytogenetic Map4A2NCBI
Osgin2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2529,500,406 - 29,519,340 (-)NCBI
Rnor_6.0 Ensembl529,663,685 - 29,682,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0529,663,131 - 29,683,634 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0534,341,646 - 34,361,956 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4530,582,447 - 30,601,332 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1530,582,407 - 30,601,836 (-)NCBI
Celera528,705,683 - 28,726,264 (-)NCBICelera
Cytogenetic Map5q13NCBI
Osgin2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554176,816,346 - 6,833,810 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554176,816,348 - 6,833,257 (+)NCBIChiLan1.0ChiLan1.0
OSGIN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1888,543,550 - 88,569,609 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl888,543,550 - 88,569,069 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0886,590,912 - 86,616,817 (+)NCBIMhudiblu_PPA_v0panPan3
OSGIN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12935,386,817 - 35,405,133 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2935,390,259 - 35,404,269 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2935,534,147 - 35,557,301 (+)NCBI
ROS_Cfam_1.02935,579,176 - 35,602,495 (+)NCBI
UMICH_Zoey_3.12935,570,328 - 35,593,670 (+)NCBI
UNSW_CanFamBas_1.02935,591,068 - 35,614,314 (+)NCBI
UU_Cfam_GSD_1.02936,024,837 - 36,048,581 (+)NCBI
Osgin2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530344,030,169 - 44,055,294 (-)NCBI
SpeTri2.0NW_0049365443,737,417 - 3,762,536 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OSGIN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl446,885,775 - 46,912,255 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1446,886,961 - 46,912,941 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2451,350,644 - 51,376,596 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OSGIN2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1884,986,109 - 85,011,312 (+)NCBI
ChlSab1.1 Ensembl884,987,441 - 85,013,933 (+)Ensembl
Osgin2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247442,070,775 - 2,091,549 (-)NCBI

Position Markers
RH91945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,939,886 - 90,940,041UniSTSGRCh37
Build 36891,009,061 - 91,009,216RGDNCBI36
Celera887,134,696 - 87,134,851RGD
Cytogenetic Map8q21UniSTS
HuRef886,150,060 - 86,150,215UniSTS
GeneMap99-GB4 RH Map8425.45UniSTS
SHGC-78860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,927,954 - 90,928,253UniSTSGRCh37
Build 36890,997,128 - 90,997,427RGDNCBI36
Celera887,122,765 - 87,123,064RGD
Cytogenetic Map8q21UniSTS
HuRef886,138,127 - 86,138,426UniSTS
TNG Radiation Hybrid Map1024515.0UniSTS
RH36135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,938,884 - 90,939,032UniSTSGRCh37
Build 36891,008,059 - 91,008,207RGDNCBI36
Celera887,133,694 - 87,133,842RGD
Cytogenetic Map8q21UniSTS
HuRef886,149,058 - 86,149,206UniSTS
GeneMap99-GB4 RH Map8425.55UniSTS
NCBI RH Map8899.7UniSTS
SHGC-31038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,921,800 - 90,921,934UniSTSGRCh37
Build 36890,990,974 - 90,991,108RGDNCBI36
Celera887,116,612 - 87,116,746RGD
Cytogenetic Map8q21UniSTS
HuRef886,131,974 - 86,132,108UniSTS
TNG Radiation Hybrid Map1024478.0UniSTS
GeneMap99-GB4 RH Map8424.52UniSTS
Whitehead-RH Map8532.7UniSTS
A009K07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,938,899 - 90,939,011UniSTSGRCh37
Build 36891,008,074 - 91,008,186RGDNCBI36
Celera887,133,709 - 87,133,821RGD
Cytogenetic Map8q21UniSTS
HuRef886,149,073 - 86,149,185UniSTS
GeneMap99-GB4 RH Map8425.45UniSTS
NCBI RH Map8899.7UniSTS
STS-N33005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,938,618 - 90,938,738UniSTSGRCh37
Build 36891,007,793 - 91,007,913RGDNCBI36
Celera887,133,428 - 87,133,548RGD
Cytogenetic Map8q21UniSTS
HuRef886,148,792 - 86,148,912UniSTS
GeneMap99-GB4 RH Map8425.45UniSTS
NCBI RH Map8899.7UniSTS
G32604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37890,938,899 - 90,939,011UniSTSGRCh37
Celera887,133,709 - 87,133,821UniSTS
Cytogenetic Map8q21UniSTS
HuRef886,149,073 - 86,149,185UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1555
Count of miRNA genes:548
Interacting mature miRNAs:609
Transcripts:ENST00000297438, ENST00000451899, ENST00000520659
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 1600 1394 892 191 977 160 2383 932 1682 277 1061 1316 45 847 1440 2
Low 836 1584 834 431 970 305 1972 1256 2046 141 392 297 128 356 1348 3
Below cutoff 2 12 1 3 1 8 5 1 7 2 1 1 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297438   ⟹   ENSP00000297438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,901,859 - 89,927,868 (+)Ensembl
RefSeq Acc Id: ENST00000451899   ⟹   ENSP00000396445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,902,570 - 89,927,888 (+)Ensembl
RefSeq Acc Id: ENST00000520659   ⟹   ENSP00000431029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,902,761 - 89,921,319 (+)Ensembl
RefSeq Acc Id: ENST00000647849   ⟹   ENSP00000497119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl889,901,849 - 89,927,853 (+)Ensembl
RefSeq Acc Id: NM_001126111   ⟹   NP_001119583
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,902,570 - 89,927,888 (+)NCBI
GRCh37890,914,096 - 90,940,096 (+)RGD
Celera887,108,907 - 87,134,906 (+)RGD
HuRef886,124,270 - 86,150,270 (+)RGD
CHM1_1890,955,693 - 90,981,041 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004337   ⟹   NP_004328
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,901,868 - 89,927,868 (+)NCBI
GRCh37890,914,096 - 90,940,096 (+)RGD
Build 36890,983,269 - 91,009,271 (+)NCBI Archive
Celera887,108,907 - 87,134,906 (+)RGD
HuRef886,124,270 - 86,150,270 (+)RGD
CHM1_1890,955,027 - 90,981,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517287   ⟹   XP_011515589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,903,066 - 89,935,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517288   ⟹   XP_011515590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,914,789 - 89,935,614 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004328   ⟸   NM_004337
- Peptide Label: isoform 2
- UniProtKB: Q9Y236 (UniProtKB/Swiss-Prot),   A0A024R9D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001119583   ⟸   NM_001126111
- Peptide Label: isoform 1
- UniProtKB: Q9Y236 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515589   ⟸   XM_011517287
- Peptide Label: isoform X1
- UniProtKB: Q9Y236 (UniProtKB/Swiss-Prot),   A0A024R9D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515590   ⟸   XM_011517288
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000396445   ⟸   ENST00000451899
RefSeq Acc Id: ENSP00000297438   ⟸   ENST00000297438
RefSeq Acc Id: ENSP00000431029   ⟸   ENST00000520659
RefSeq Acc Id: ENSP00000497119   ⟸   ENST00000647849

Promoters
RGD ID:7213717
Promoter ID:EPDNEW_H12604
Type:initiation region
Name:OSGIN2_3
Description:oxidative stress induced growth inhibitor family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12605  EPDNEW_H12606  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,901,850 - 89,901,910EPDNEW
RGD ID:7213719
Promoter ID:EPDNEW_H12605
Type:initiation region
Name:OSGIN2_2
Description:oxidative stress induced growth inhibitor family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12604  EPDNEW_H12606  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,902,017 - 89,902,077EPDNEW
RGD ID:7213723
Promoter ID:EPDNEW_H12606
Type:initiation region
Name:OSGIN2_1
Description:oxidative stress induced growth inhibitor family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12604  EPDNEW_H12605  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38889,902,570 - 89,902,630EPDNEW
RGD ID:6806909
Promoter ID:HG_KWN:61661
Type:CpG-Island
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:ENST00000297438,   NM_001126111
Position:
Human AssemblyChrPosition (strand)Source
Build 36890,983,386 - 90,984,142 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002485.4(NBN):c.*1209A>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000366927] Chr8:89934373 [GRCh38]
Chr8:90946601 [GRCh37]
Chr8:8q21.3
benign
NM_002485.4(NBN):c.*937T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000269052] Chr8:89934645 [GRCh38]
Chr8:90946873 [GRCh37]
Chr8:8q21.3
benign|likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
NM_001126111.1(OSGIN2):c.227C>T (p.Ser76Phe) single nucleotide variant Malignant melanoma [RCV000068440] Chr8:89914104 [GRCh38]
Chr8:90926332 [GRCh37]
Chr8:90995506 [NCBI36]
Chr8:8q21.3
not provided
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_002485.4(NBN):c.2235-2A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000669126] Chr8:89935614 [GRCh38]
Chr8:90947842 [GRCh37]
Chr8:8q21.3
likely pathogenic
NM_002485.4(NBN):c.2237A>G (p.Tyr746Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565543] Chr8:89935610 [GRCh38]
Chr8:90947838 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.2235A>G (p.Arg745=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581635] Chr8:89935612 [GRCh38]
Chr8:90947840 [GRCh37]
Chr8:8q21.3
likely benign
NM_002485.4(NBN):c.*987T>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000313620] Chr8:89934595 [GRCh38]
Chr8:90946823 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*401C>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000316124]|not provided [RCV000114873] Chr8:89935181 [GRCh38]
Chr8:90947409 [GRCh37]
Chr8:91016585 [NCBI36]
Chr8:8q21.3
uncertain significance|not provided
NM_002485.4(NBN):c.2185-?_*(1_?)del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000195535] Chr8:89935581..89937075 [GRCh38]
Chr8:90947809..90949303 [GRCh37]
Chr8:8q21.3
likely pathogenic
NM_002485.4(NBN):c.*1869_*1872del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000278275] Chr8:89933710..89933713 [GRCh38]
Chr8:90945938..90945941 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*226T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000280861] Chr8:89935356 [GRCh38]
Chr8:90947584 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*485A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000377744] Chr8:89935097 [GRCh38]
Chr8:90947325 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*1754T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000397319] Chr8:89933828 [GRCh38]
Chr8:90946056 [GRCh37]
Chr8:8q21.3
benign
NM_002485.4(NBN):c.2247T>C (p.Tyr749=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162748]|Microcephaly, normal intelligence and immunodeficiency [RCV000553270] Chr8:89935600 [GRCh38]
Chr8:90947828 [GRCh37]
Chr8:8q21.3
likely benign
NM_002485.4(NBN):c.2240A>G (p.Asn747Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564498]|Microcephaly, normal intelligence and immunodeficiency [RCV000545104]|not provided [RCV000985875] Chr8:89935607 [GRCh38]
Chr8:90947835 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8q21.3(chr8:90742314-91017575)x1 copy number loss See cases [RCV000447277] Chr8:90742314..91017575 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NC_000008.11:g.(?_89935576)_(89981529_?)del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000636822] Chr8:89935576..89981529 [GRCh38]
Chr8:90947804..90993757 [GRCh37]
Chr8:8q21.3
likely pathogenic
NM_002485.4(NBN):c.*757A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000364888] Chr8:89934825 [GRCh38]
Chr8:90947053 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.*541G>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000272651] Chr8:89935041 [GRCh38]
Chr8:90947269 [GRCh37]
Chr8:8q21.3
benign
NC_000008.10:g.(?_90945564)_(90971082_?)dup duplication Microcephaly, normal intelligence and immunodeficiency [RCV000471493] Chr8:89933336..89958854 [GRCh38]
Chr8:90945564..90971082 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*2_*3del deletion Hereditary cancer-predisposing syndrome [RCV000584350]|not specified [RCV000484967] Chr8:89935579..89935580 [GRCh38]
Chr8:90947807..90947808 [GRCh37]
Chr8:8q21.3
likely benign
NC_000008.10:g.(?_90947804)_(90996795_?)dup duplication Microcephaly, normal intelligence and immunodeficiency [RCV000558454] Chr8:89935576..89984567 [GRCh38]
Chr8:90947804..90996795 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*790T>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000326439] Chr8:89934792 [GRCh38]
Chr8:90947020 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.*123T>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000338166] Chr8:89935459 [GRCh38]
Chr8:90947687 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*1823T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000335711] Chr8:89933759 [GRCh38]
Chr8:90945987 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.2246A>T (p.Tyr749Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219183]|Microcephaly, normal intelligence and immunodeficiency [RCV000205239] Chr8:89935601 [GRCh38]
Chr8:90947829 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*1977T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000341427] Chr8:89933605 [GRCh38]
Chr8:90945833 [GRCh37]
Chr8:8q21.3
benign
NM_002485.4(NBN):c.*273G>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000373039] Chr8:89935309 [GRCh38]
Chr8:90947537 [GRCh37]
Chr8:8q21.3
benign
NM_002485.4(NBN):c.*419C>T single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000286811] Chr8:89935163 [GRCh38]
Chr8:90947391 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.*522T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000320788] Chr8:89935060 [GRCh38]
Chr8:90947288 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*2212G>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000284864] Chr8:89933370 [GRCh38]
Chr8:90945598 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.*1013G>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000399876] Chr8:89934569 [GRCh38]
Chr8:90946797 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.2258G>C (p.Arg753Thr) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000403315] Chr8:89935589 [GRCh38]
Chr8:90947817 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564630]|Microcephaly, normal intelligence and immunodeficiency [RCV000698449]|not provided [RCV000578737] Chr8:89935609 [GRCh38]
Chr8:90947837 [GRCh37]
Chr8:8q21.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q21.3(chr8:90717375-91029121)x1 copy number loss See cases [RCV000512288] Chr8:90717375..91029121 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*983G>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000370630] Chr8:89934599 [GRCh38]
Chr8:90946827 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.2250A>T (p.Leu750Phe) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000529264] Chr8:89935597 [GRCh38]
Chr8:90947825 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*1692A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000300605] Chr8:89933890 [GRCh38]
Chr8:90946118 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.*1961T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000397384] Chr8:89933621 [GRCh38]
Chr8:90945849 [GRCh37]
Chr8:8q21.3
benign|likely benign
NM_002485.4(NBN):c.2244T>A (p.Pro748=) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000636816] Chr8:89935603 [GRCh38]
Chr8:90947831 [GRCh37]
Chr8:8q21.3
likely benign
NC_000008.10:g.(?_90947804)_(90955600_?)dup duplication Microcephaly, normal intelligence and immunodeficiency [RCV000636823] Chr8:89935576..89943372 [GRCh38]
Chr8:90947804..90955600 [GRCh37]
Chr8:8q21.3
uncertain significance
NC_000008.11:g.(?_89935576)_(89937081_?)del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000546060] Chr8:89935576..89937081 [GRCh38]
Chr8:90947804..90949309 [GRCh37]
Chr8:8q21.3
likely pathogenic
NM_002485.4(NBN):c.*2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562484] Chr8:89935580 [GRCh38]
Chr8:90947808 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_002485.4(NBN):c.2238C>G (p.Tyr746Ter) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000670725] Chr8:89935609 [GRCh38]
Chr8:90947837 [GRCh37]
Chr8:8q21.3
likely pathogenic
NM_002485.4(NBN):c.*364_*393del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000674120] Chr8:89935189..89935218 [GRCh38]
Chr8:90947417..90947446 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
NM_002485.4(NBN):c.2258G>A (p.Arg753Lys) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV000685557] Chr8:89935589 [GRCh38]
Chr8:90947817 [GRCh37]
Chr8:8q21.3
uncertain significance
NC_000008.11:g.(?_89921080)_(89984561_?)del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000708126] Chr8:89921080..89984561 [GRCh38]
Chr8:90933308..90996789 [GRCh37]
Chr8:8q21.3
pathogenic
NC_000008.11:g.(?_89935572)_(89937085_?)del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000708272] Chr8:89935572..89937085 [GRCh38]
Chr8:90947800..90949313 [GRCh37]
Chr8:8q21.3
likely pathogenic
NC_000008.11:g.(?_89935572)_(89984571_?)del deletion Microcephaly, normal intelligence and immunodeficiency [RCV000708452] Chr8:89935572..89984571 [GRCh38]
Chr8:90947800..90996799 [GRCh37]
Chr8:8q21.3
pathogenic
NC_000008.10:g.(?_90947800)_(90996799_?)dup duplication Microcephaly, normal intelligence and immunodeficiency [RCV000708103] Chr8:89935572..89984571 [GRCh38]
Chr8:90947800..90996799 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:90737258-91091402)x3 copy number gain not provided [RCV000747708] Chr8:90737258..91091402 [GRCh37]
Chr8:8q21.3
benign
GRCh37/hg19 8q21.3(chr8:90938629-90967711)x3 copy number gain not provided [RCV000747709] Chr8:90938629..90967711 [GRCh37]
Chr8:8q21.3
benign
NM_002485.5(NBN):c.*638G>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001164773] Chr8:89934944 [GRCh38]
Chr8:90947172 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_002485.4(NBN):c.2263T>C (p.Ter755Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773957] Chr8:89935584 [GRCh38]
Chr8:90947812 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.4(NBN):c.*7del deletion Hereditary cancer-predisposing syndrome [RCV000776510] Chr8:89935575 [GRCh38]
Chr8:90947803 [GRCh37]
Chr8:8q21.3
likely benign
NC_000008.10:g.(?_90947800)_(90971092_?)dup duplication Microcephaly, normal intelligence and immunodeficiency [RCV000813347] Chr8:89935572..89958864 [GRCh38]
Chr8:90947800..90971092 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_001126111.3(OSGIN2):c.1088G>C (p.Cys363Ser) single nucleotide variant not provided [RCV000885656] Chr8:89924970 [GRCh38]
Chr8:90937198 [GRCh37]
Chr8:8q21.3
benign
NM_002485.5(NBN):c.*829T>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001164771] Chr8:89934753 [GRCh38]
Chr8:90946981 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*680A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001164772] Chr8:89934902 [GRCh38]
Chr8:90947130 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002485.5(NBN):c.*1220C>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001162713] Chr8:89934362 [GRCh38]
Chr8:90946590 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1642A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001161154] Chr8:89933940 [GRCh38]
Chr8:90946168 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1583G>A single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001161155] Chr8:89933999 [GRCh38]
Chr8:90946227 [GRCh37]
Chr8:8q21.3
likely benign
NM_001126111.3(OSGIN2):c.489C>T (p.His163=) single nucleotide variant not provided [RCV000965778] Chr8:89914707 [GRCh38]
Chr8:90926935 [GRCh37]
Chr8:8q21.3
benign
NM_002485.5(NBN):c.*2188T>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159749] Chr8:89933394 [GRCh38]
Chr8:90945622 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*352C>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159855] Chr8:89935230 [GRCh38]
Chr8:90947458 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.2240A>T (p.Asn747Ile) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001236948] Chr8:89935607 [GRCh38]
Chr8:90947835 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1287A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001162710] Chr8:89934295 [GRCh38]
Chr8:90946523 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1267A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001162711] Chr8:89934315 [GRCh38]
Chr8:90946543 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1222A>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001162712] Chr8:89934360 [GRCh38]
Chr8:90946588 [GRCh37]
Chr8:8q21.3
likely benign
NM_002485.5(NBN):c.2245T>A (p.Tyr749Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014913] Chr8:89935602 [GRCh38]
Chr8:90947830 [GRCh37]
Chr8:8q21.3
likely benign
NM_002485.5(NBN):c.*1400C>T single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001161157] Chr8:89934182 [GRCh38]
Chr8:90946410 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*2206C>T single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159748] Chr8:89933376 [GRCh38]
Chr8:90945604 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*2129G>T single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159750] Chr8:89933453 [GRCh38]
Chr8:90945681 [GRCh37]
Chr8:8q21.3
likely benign
NM_002485.5(NBN):c.*504A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159854] Chr8:89935078 [GRCh38]
Chr8:90947306 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.2256del (p.Arg753fs) deletion Microcephaly, normal intelligence and immunodeficiency [RCV001058000] Chr8:89935591 [GRCh38]
Chr8:90947819 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8q21.3(chr8:90758337-91556317)x3 copy number gain See cases [RCV001007451] Chr8:90758337..91556317 [GRCh37]
Chr8:8q21.3
uncertain significance
NC_000008.11:g.89933330A>T single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159747] Chr8:89933330 [GRCh38]
Chr8:90945558 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*2059A>C single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001159751] Chr8:89933523 [GRCh38]
Chr8:90945751 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1562A>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001161156] Chr8:89934020 [GRCh38]
Chr8:90946248 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.*1297T>G single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001161158] Chr8:89934285 [GRCh38]
Chr8:90946513 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3 copy number gain not provided [RCV001259018] Chr8:88194550..91779543 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.2256_2258del (p.Arg754del) deletion Microcephaly, normal intelligence and immunodeficiency [RCV001313010] Chr8:89935589..89935591 [GRCh38]
Chr8:90947817..90947819 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_002485.5(NBN):c.2242C>T (p.Pro748Ser) single nucleotide variant Microcephaly, normal intelligence and immunodeficiency [RCV001337785] Chr8:89935605 [GRCh38]
Chr8:90947833 [GRCh37]
Chr8:8q21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1355 AgrOrtholog
COSMIC OSGIN2 COSMIC
Ensembl Genes ENSG00000164823 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297438 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396445 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431029 UniProtKB/TrEMBL
  ENSP00000497119 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297438 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000451899 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520659 UniProtKB/TrEMBL
  ENST00000647849 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164823 GTEx
HGNC ID HGNC:1355 ENTREZGENE
Human Proteome Map OSGIN2 Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OKL38_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OSGIN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:734 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 734 ENTREZGENE
OMIM 604598 OMIM
PANTHER PTHR15192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15192:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162398506 PharmGKB
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9D5 ENTREZGENE, UniProtKB/TrEMBL
  E5RJZ3_HUMAN UniProtKB/TrEMBL
  OSGI2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE