RBM8A (RNA binding motif protein 8A) - Rat Genome Database

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Gene: RBM8A (RNA binding motif protein 8A) Homo sapiens
Analyze
Symbol: RBM8A
Name: RNA binding motif protein 8A
RGD ID: 1320809
HGNC Page HGNC
Description: Enables RNA binding activity. Involved in mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of U2-type catalytic step 1 spliceosome; catalytic step 2 spliceosome; and exon-exon junction complex. Implicated in thrombocytopenia-absent radius syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: binder of OVCA1; binder of OVCA1-1; BOV-1; BOV-1A; BOV-1B; BOV-1C; C1DELq21.1; DEL1q21.1; MDS014; RBM8; RBM8B; ribonucleoprotein RBM8; ribonucleoprotein RBM8A; RNA binding motif protein 8B; RNA-binding motif protein 8A; RNA-binding protein 8A; RNA-binding protein Y14; TAR; Y14; ZNRP; ZRNP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RBM8B  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1145,917,714 - 145,927,678 (-)EnsemblGRCh38hg38GRCh38
GRCh381145,921,556 - 145,927,484 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371145,507,609 - 145,513,536 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,218,995 - 144,222,801 (+)NCBINCBI36hg18NCBI36
Build 341142,996,681 - 143,000,488NCBI
Celera1119,710,991 - 119,714,797 (+)NCBI
Cytogenetic Map1q21.1NCBI
HuRef1119,471,247 - 119,477,227 (+)NCBIHuRef
CHM1_11147,289,682 - 147,295,662 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
mRNA binding  (IBA,IEA,NAS)
protein binding  (IPI,ISO)
RNA binding  (HDA,NAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Absent radius  (IAGP)
Adducted thumb  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the uterus  (IAGP)
Aplasia/hypoplasia of the humerus  (IAGP)
Aplasia/Hypoplasia of the patella  (IAGP)
Aplasia/Hypoplasia of the ulna  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial malrotation of the kidney  (IAGP)
Bilateral radial aplasia  (IAGP)
Brachycephaly  (IAGP)
Broad forehead  (IAGP)
Broad thumb  (IAGP)
Carpal bone hypoplasia  (IAGP)
Carpal synostosis  (IAGP)
Cavum septum pellucidum  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cervical ribs  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Cow milk allergy  (IAGP)
Coxa valga  (IAGP)
Death in infancy  (IAGP)
Decreased circulating antibody level  (IAGP)
Delayed CNS myelination  (IAGP)
Edema of the dorsum of feet  (IAGP)
Edema of the dorsum of hands  (IAGP)
Eosinophilia  (IAGP)
Fibular aplasia  (IAGP)
Finger syndactyly  (IAGP)
Fused cervical vertebrae  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hepatosplenomegaly  (IAGP)
High forehead  (IAGP)
Hip dislocation  (IAGP)
Horseshoe kidney  (IAGP)
Intellectual disability  (IAGP)
Lateral clavicle hook  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Malar flattening  (IAGP)
Meckel diverticulum  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Nevus flammeus of the forehead  (IAGP)
Pancreatic cysts  (IAGP)
Parathyroid carcinoma  (IAGP)
Patellar aplasia  (IAGP)
Patellar dislocation  (IAGP)
Phocomelia  (IAGP)
Ptosis  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seborrheic dermatitis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Shoulder muscle hypoplasia  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Tibial torsion  (IAGP)
Ventricular septal defect  (IAGP)
References

Additional References at PubMed
PMID:9222511   PMID:9933612   PMID:10662555   PMID:11004516   PMID:11013075   PMID:11030346   PMID:11042152   PMID:11118221   PMID:11447110   PMID:11546873   PMID:11546874   PMID:11696323  
PMID:11707068   PMID:11707413   PMID:11991638   PMID:12054603   PMID:12093754   PMID:12226669   PMID:12477932   PMID:12486002   PMID:12718880   PMID:12730685   PMID:12781131   PMID:12944400  
PMID:14625303   PMID:14730019   PMID:15302935   PMID:15489334   PMID:15635413   PMID:16083285   PMID:16100109   PMID:16159877   PMID:16170325   PMID:16189514   PMID:16209946   PMID:16303743  
PMID:16344560   PMID:16452507   PMID:16501559   PMID:16601204   PMID:16931718   PMID:16964243   PMID:17081983   PMID:17456004   PMID:18026120   PMID:18029348   PMID:18243119   PMID:18503751  
PMID:19254694   PMID:19410547   PMID:19417104   PMID:19615732   PMID:20098747   PMID:20301781   PMID:20371770   PMID:20930030   PMID:21145460   PMID:21209085   PMID:21832049   PMID:21873635  
PMID:22203037   PMID:22355610   PMID:22365833   PMID:22366785   PMID:22681889   PMID:22939629   PMID:22944692   PMID:22961380   PMID:23084401   PMID:23115303   PMID:23602568   PMID:23817415  
PMID:23940030   PMID:23970407   PMID:24244333   PMID:24416299   PMID:24457600   PMID:24711643   PMID:24981860   PMID:24999758   PMID:25416956   PMID:25662211   PMID:25693804   PMID:25813282  
PMID:25948253   PMID:26094033   PMID:26186194   PMID:26264872   PMID:26344197   PMID:26472337   PMID:26496610   PMID:26638075   PMID:26887951   PMID:27025967   PMID:27609421   PMID:27684187  
PMID:28259942   PMID:28302793   PMID:28361991   PMID:28514442   PMID:28515276   PMID:28581483   PMID:29053956   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29301961   PMID:29330450  
PMID:29395067   PMID:29467282   PMID:29509190   PMID:29599191   PMID:29802200   PMID:29997244   PMID:30404004   PMID:30463901   PMID:30575818   PMID:30670676   PMID:30804502   PMID:30826064  
PMID:31059266   PMID:31076518   PMID:31180492   PMID:31182584   PMID:31478661   PMID:31527615   PMID:31586073   PMID:31816601   PMID:31950832   PMID:32227665   PMID:32296183   PMID:32416067  
PMID:32780723   PMID:32807901   PMID:32814053   PMID:32877691   PMID:33144569   PMID:33301849   PMID:33961781  


Genomics

Comparative Map Data
RBM8A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1145,917,714 - 145,927,678 (-)EnsemblGRCh38hg38GRCh38
GRCh381145,921,556 - 145,927,484 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371145,507,609 - 145,513,536 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,218,995 - 144,222,801 (+)NCBINCBI36hg18NCBI36
Build 341142,996,681 - 143,000,488NCBI
Celera1119,710,991 - 119,714,797 (+)NCBI
Cytogenetic Map1q21.1NCBI
HuRef1119,471,247 - 119,477,227 (+)NCBIHuRef
CHM1_11147,289,682 - 147,295,662 (-)NCBICHM1_1
Rbm8a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,537,244 - 96,541,107 (+)NCBIGRCm39mm39
GRCm39 Ensembl396,537,249 - 96,541,107 (+)Ensembl
GRCm38396,629,928 - 96,633,791 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,629,933 - 96,633,791 (+)EnsemblGRCm38mm10GRCm38
MGSCv37396,433,851 - 96,437,714 (+)NCBIGRCm37mm9NCBIm37
MGSCv36396,715,338 - 96,718,315 (+)NCBImm8
Celera398,036,943 - 98,040,803 (+)NCBICelera
Cytogenetic Map3F2.1NCBI
Rbm8a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22184,165,189 - 184,167,959 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2184,165,193 - 184,167,959 (+)Ensembl
Rnor_6.02198,755,261 - 198,758,028 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2198,755,262 - 198,758,028 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02218,242,195 - 218,244,962 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42191,429,805 - 191,432,261 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12191,392,562 - 191,394,768 (+)NCBI
Celera2176,690,271 - 176,693,037 (+)NCBICelera
Cytogenetic Map2q34NCBI
Rbm8a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955568164,050 - 166,162 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955568164,050 - 166,162 (+)NCBIChiLan1.0ChiLan1.0
RBM8A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11113,834,110 - 113,839,429 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1113,834,110 - 113,839,429 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01121,830,424 - 121,836,378 (+)NCBIMhudiblu_PPA_v0panPan3
RBM8A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11758,722,449 - 58,726,017 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1758,724,227 - 58,725,969 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,190,496 - 58,194,070 (-)NCBI
ROS_Cfam_1.01759,719,316 - 59,722,888 (-)NCBI
UMICH_Zoey_3.11758,592,052 - 58,595,627 (-)NCBI
UNSW_CanFamBas_1.01758,653,189 - 58,656,764 (-)NCBI
UU_Cfam_GSD_1.01759,379,610 - 59,383,186 (-)NCBI
Rbm8a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505820,790,095 - 20,791,757 (-)NCBI
SpeTri2.0NW_004936867666,208 - 667,851 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM8A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl499,408,464 - 99,413,492 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1499,408,422 - 99,411,964 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24109,051,095 - 109,052,810 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RBM8A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12012,819,891 - 12,821,656 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2012,819,956 - 12,821,629 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603815,498,984 - 15,502,718 (+)NCBIVero_WHO_p1.0
Rbm8a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477217,286,950 - 17,289,143 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH12855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,509,005 - 145,509,302UniSTSGRCh37
Build 361144,220,362 - 144,220,659RGDNCBI36
Celera1119,712,358 - 119,712,655RGD
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,472,695 - 119,472,992UniSTS
GeneMap99-GB4 RH Map1512.23UniSTS
WI-19788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,513,241 - 145,513,490UniSTSGRCh37
Build 361144,224,598 - 144,224,847RGDNCBI36
Celera1119,716,595 - 119,716,844RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,476,932 - 119,477,181UniSTS
GeneMap99-GB4 RH Map1515.77UniSTS
Whitehead-RH Map1609.2UniSTS
WI-22172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,513,433 - 145,513,513UniSTSGRCh37
Build 361144,224,790 - 144,224,870RGDNCBI36
Celera1119,716,787 - 119,716,867RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,477,124 - 119,477,204UniSTS
GeneMap99-GB4 RH Map1516.19UniSTS
Whitehead-RH Map1609.6UniSTS
SHGC-75413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,513,370 - 145,513,502UniSTSGRCh37
Build 361144,224,727 - 144,224,859RGDNCBI36
Celera1119,716,724 - 119,716,856RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,477,061 - 119,477,193UniSTS
TNG Radiation Hybrid Map167107.0UniSTS
GeneMap99-GB4 RH Map1512.23UniSTS
RH80039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,511,162 - 145,511,365UniSTSGRCh37
GRCh371460,866,951 - 60,867,154UniSTSGRCh37
Build 361144,222,519 - 144,222,722RGDNCBI36
Celera1119,714,515 - 119,714,718RGD
Celera1440,917,062 - 40,917,265UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q12UniSTS
HuRef1119,474,852 - 119,475,055UniSTS
HuRef1441,030,502 - 41,030,705UniSTS
GeneMap99-GB4 RH Map1510.3UniSTS
Bdaa5e06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,510,515 - 145,510,645UniSTSGRCh37
GRCh371460,866,304 - 60,866,434UniSTSGRCh37
Build 361144,221,872 - 144,222,002RGDNCBI36
Celera1440,916,415 - 40,916,545UniSTS
Celera1119,713,868 - 119,713,998RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q23.1UniSTS
HuRef1119,474,205 - 119,474,335UniSTS
RH10610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,513,292 - 145,513,428UniSTSGRCh37
Build 361144,224,649 - 144,224,785RGDNCBI36
Celera1119,716,646 - 119,716,782RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,476,983 - 119,477,119UniSTS
G19805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,513,292 - 145,513,428UniSTSGRCh37
Build 361144,224,649 - 144,224,785RGDNCBI36
Celera1119,716,646 - 119,716,782RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1119,476,983 - 119,477,119UniSTS
A008J33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,512,432 - 145,512,549UniSTSGRCh37
Build 361144,223,789 - 144,223,906RGDNCBI36
Celera1119,715,786 - 119,715,903RGD
Cytogenetic Map1q12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q23.1UniSTS
HuRef1119,476,123 - 119,476,240UniSTS
GeneMap99-GB4 RH Map1519.38UniSTS
MARC_13480-13481:1003840387:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,864,709 - 60,864,933UniSTSGRCh37
GRCh371145,508,504 - 145,509,032UniSTSGRCh37
Build 361144,219,861 - 144,220,389RGDNCBI36
Celera1440,914,820 - 40,915,044UniSTS
Celera1119,711,857 - 119,712,385RGD
HuRef1441,028,213 - 41,028,437UniSTS
HuRef1119,472,194 - 119,472,722UniSTS
MARC_7387-7388:996687855:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,864,631 - 60,864,857UniSTSGRCh37
GRCh371145,508,236 - 145,508,956UniSTSGRCh37
Build 361459,934,384 - 59,934,610RGDNCBI36
Celera1119,711,589 - 119,712,309UniSTS
Celera1440,914,742 - 40,914,968RGD
HuRef1441,028,135 - 41,028,361UniSTS
HuRef1119,471,926 - 119,472,646UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
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Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1901
Count of miRNA genes:962
Interacting mature miRNAs:1158
Transcripts:ENST00000330165, ENST00000369307, ENST00000484825, ENST00000498663
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2329 2387 1369 323 1597 165 4313 1901 3530 165 1260 1463 172 1204 2783 4
Low 29 604 118 112 181 111 6 296 160 18 12 5 3 1 5 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC243547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF198620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF299118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF403012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI424454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB286556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF051020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ579163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ579164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ579165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369307   ⟹   ENSP00000358313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,925,642 - 145,927,460 (-)Ensembl
RefSeq Acc Id: ENST00000484825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,926,482 - 145,927,495 (-)Ensembl
RefSeq Acc Id: ENST00000498663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,926,146 - 145,927,495 (-)Ensembl
RefSeq Acc Id: ENST00000583313   ⟹   ENSP00000463058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,921,556 - 145,927,484 (-)Ensembl
RefSeq Acc Id: ENST00000632040   ⟹   ENSP00000488887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,917,781 - 145,926,618 (-)Ensembl
RefSeq Acc Id: ENST00000632555   ⟹   ENSP00000488265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,921,632 - 145,927,447 (-)Ensembl
RefSeq Acc Id: ENST00000633781   ⟹   ENSP00000487764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,917,781 - 145,926,618 (-)Ensembl
RefSeq Acc Id: ENST00000634130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,917,714 - 145,926,741 (-)Ensembl
RefSeq Acc Id: ENST00000634161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1145,926,817 - 145,927,678 (-)Ensembl
RefSeq Acc Id: NM_005105   ⟹   NP_005096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,921,556 - 145,927,484 (-)NCBI
GRCh371145,507,557 - 145,513,536 (+)ENTREZGENE
GRCh371145,507,557 - 145,513,536 (+)NCBI
Build 361144,218,995 - 144,222,801 (+)NCBI Archive
HuRef1119,471,247 - 119,477,227 (+)ENTREZGENE
CHM1_11147,289,682 - 147,295,662 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005096   ⟸   NM_005105
- UniProtKB: Q9Y5S9 (UniProtKB/Swiss-Prot),   A0A023T787 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000463058   ⟸   ENST00000583313
RefSeq Acc Id: ENSP00000358313   ⟸   ENST00000369307
RefSeq Acc Id: ENSP00000488265   ⟸   ENST00000632555
RefSeq Acc Id: ENSP00000488887   ⟸   ENST00000632040
RefSeq Acc Id: ENSP00000487764   ⟸   ENST00000633781
Protein Domains
RRM

Promoters
RGD ID:6786399
Promoter ID:HG_KWN:4620
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000038503,   OTTHUMT00000038505,   OTTHUMT00000100472,   UC001ENU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361144,218,756 - 144,219,256 (+)MPROMDB
RGD ID:6852202
Promoter ID:EP73907
Type:initiation region
Name:HS_RBM8A
Description:RNA binding motif protein 8A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361144,218,997 - 144,219,057EPD
RGD ID:6784595
Promoter ID:HG_KWN:4622
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001ENW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361144,223,746 - 144,224,246 (+)MPROMDB
RGD ID:6856840
Promoter ID:EPDNEW_H1585
Type:initiation region
Name:RBM8A_1
Description:RNA binding motif protein 8A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,927,484 - 145,927,544EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005105.5(RBM8A):c.67+32G>C single nucleotide variant Global developmental delay [RCV001270062]|Radial aplasia-thrombocytopenia syndrome [RCV000023419]|not provided [RCV000172898] Chr1:145927328 [GRCh38]
Chr1:145507765 [GRCh37]
Chr1:1q21.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_005105.5(RBM8A):c.-21G>A single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV000023418]|not provided [RCV000081257] Chr1:145927447 [GRCh38]
Chr1:145507646 [GRCh37]
Chr1:1q21.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) insertion Radial aplasia-thrombocytopenia syndrome [RCV000023420] Chr1:145926616..145926617 [GRCh38]
Chr1:145508476..145508477 [GRCh37]
Chr1:1q21.1
pathogenic
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter) single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV000023421] Chr1:145925920 [GRCh38]
Chr1:145509173 [GRCh37]
Chr1:1q21.1
pathogenic
NM_005105.4(RBM8A):c.67+32G>C single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV000055908]|not provided [RCV000081258] Chr1:145927328 [GRCh38]
Chr1:145507765 [GRCh37]
Chr1:1q21.1
pathogenic|conflicting data from submitters|conflicting interpretations of pathogenicity
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 copy number gain See cases [RCV000050972] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1
benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 copy number loss See cases [RCV000050973] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22
pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 copy number loss See cases [RCV000052241] Chr1:145705541..146009831 [GRCh38]
Chr1:145425195..145729525 [GRCh37]
Chr1:144136552..144440882 [NCBI36]
Chr1:1q21.1
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|See cases [RCV000052242] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1 copy number loss See cases [RCV000053728] Chr1:145335791..146944906 [GRCh38]
Chr1:145271814..147848311 [GRCh37]
Chr1:143983171..146314935 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1 copy number loss See cases [RCV000053732] Chr1:145335791..146133507 [GRCh38]
Chr1:145304668..145738275 [GRCh37]
Chr1:144016025..144449632 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1 copy number loss See cases [RCV000053735] Chr1:145688094..146046645 [GRCh38]
Chr1:145388355..145746971 [GRCh37]
Chr1:144099712..144458328 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1 copy number loss See cases [RCV000053738] Chr1:145601946..146046645 [GRCh38]
Chr1:145388355..145917640 [GRCh37]
Chr1:144099712..144628997 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1 copy number loss See cases [RCV000053739] Chr1:145609216..146046645 [GRCh38]
Chr1:145388355..145825847 [GRCh37]
Chr1:144099712..144537204 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1 copy number loss See cases [RCV000053740] Chr1:145635445..146046645 [GRCh38]
Chr1:145388355..145799602 [GRCh37]
Chr1:144099712..144510959 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1 copy number loss See cases [RCV000053742] Chr1:145625047..146021303 [GRCh38]
Chr1:145413710..145810009 [GRCh37]
Chr1:144125067..144521366 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145833599-146009630)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053545]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053545]|See cases [RCV000053545] Chr1:145833599..146009630 [GRCh38]
Chr1:145425395..145601513 [GRCh37]
Chr1:144136752..144312870 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3 copy number gain See cases [RCV000053546] Chr1:145635445..145968427 [GRCh38]
Chr1:145466663..145799602 [GRCh37]
Chr1:144178020..144510959 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3 copy number gain See cases [RCV000053578] Chr1:143646638..146126442 [GRCh37]
Chr1:142438161..144837799 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3 copy number gain See cases [RCV000053579] Chr1:145335791..146146477 [GRCh38]
Chr1:145291698..146037042 [GRCh37]
Chr1:144003055..144748399 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3 copy number gain See cases [RCV000053580] Chr1:145335791..146127929 [GRCh38]
Chr1:145310253..145899398 [GRCh37]
Chr1:144021610..144610755 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 copy number gain See cases [RCV000053581] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 copy number loss See cases [RCV000053882] Chr1:144810725..146858488 [GRCh37]
Chr1:143456705..145325112 [NCBI36]
Chr1:1q21.1
pathogenic
NM_005105.5(RBM8A):c.67+93A>T single nucleotide variant not provided [RCV000097479] Chr1:145927267 [GRCh38]
Chr1:145507826 [GRCh37]
Chr1:1q21.1
benign
NM_005105.5(RBM8A):c.*6C>G single nucleotide variant not provided [RCV000081256] Chr1:145925876 [GRCh38]
Chr1:145509217 [GRCh37]
Chr1:1q21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
NC_000001.10:g.(?_145413072)_(145592772_145596903)del deletion Radial aplasia-thrombocytopenia syndrome [RCV000033867] Chr1:145413072..145592772 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3 copy number gain See cases [RCV000134116] Chr1:145635432..146019857 [GRCh38]
Chr1:145415156..145799615 [GRCh37]
Chr1:144126513..144510972 [NCBI36]
Chr1:1q21.1
conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3 copy number gain See cases [RCV000135354] Chr1:145688153..146166380 [GRCh38]
Chr1:145271815..145746912 [GRCh37]
Chr1:143983172..144458269 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3 copy number gain See cases [RCV000135720] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1
conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3 copy number gain See cases [RCV000135485] Chr1:145691625..146082575 [GRCh38]
Chr1:145311043..145743440 [GRCh37]
Chr1:144022400..144454797 [NCBI36]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely benign
GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1 copy number loss See cases [RCV000135938] Chr1:145646117..146019823 [GRCh38]
Chr1:145415190..145788922 [GRCh37]
Chr1:144126547..144500279 [NCBI36]
Chr1:1q21.1
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1 copy number loss See cases [RCV000137671] Chr1:145601946..146019823 [GRCh38]
Chr1:145415190..146053471 [GRCh37]
Chr1:144126547..144764828 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1(chr1:144955198-145831720)x1 copy number loss See cases [RCV000140037] Chr1:144955198..145831720 [GRCh37]
Chr1:143666555..144543077 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1 copy number loss See cases [RCV000139546] Chr1:145601946..146046631 [GRCh38]
Chr1:145388369..145899418 [GRCh37]
Chr1:144099726..144610775 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1 copy number loss See cases [RCV000141815] Chr1:145601946..146052881 [GRCh38]
Chr1:145382123..145888926 [GRCh37]
Chr1:144093480..144600283 [NCBI36]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1(chr1:144887739-145829474)x1 copy number loss See cases [RCV000141909] Chr1:144887739..145829474 [GRCh37]
Chr1:143599096..144540831 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1 copy number loss See cases [RCV000142207] Chr1:145642988..146047980 [GRCh38]
Chr1:145387023..145792052 [GRCh37]
Chr1:144098380..144503409 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1 copy number loss See cases [RCV000143222] Chr1:145601946..146065803 [GRCh38]
Chr1:145369199..145888926 [GRCh37]
Chr1:144080556..144600283 [NCBI36]
Chr1:1q21.1
likely pathogenic
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 copy number gain See cases [RCV000148088] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 copy number loss See cases [RCV000148089] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1 copy number loss See cases [RCV000143601] Chr1:145605589..146057729 [GRCh38]
Chr1:145377276..145829474 [GRCh37]
Chr1:144088633..144540831 [NCBI36]
Chr1:1q21.1
uncertain significance
NM_005105.5(RBM8A):c.128-61C>A single nucleotide variant not provided [RCV001689700]|not specified [RCV000153813] Chr1:145926947 [GRCh38]
Chr1:145508146 [GRCh37]
Chr1:1q21.1
benign
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 copy number loss See cases [RCV000148151] Chr1:145705541..146009831 [GRCh38]
Chr1:145425195..145729525 [GRCh37]
Chr1:144136552..144440882 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 copy number gain See cases [RCV000148171] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3 copy number gain See cases [RCV000515605] Chr1:145416056..146089268 [GRCh37]
Chr1:1q21.1
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1 copy number loss See cases [RCV000052251] Chr1:145601946..146944906 [GRCh38]
Chr1:145787561..147800872 [GRCh37]
Chr1:144498918..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 copy number gain See cases [RCV000053188] Chr1:145601946..146944906 [GRCh38]
Chr1:145764368..147718449 [GRCh37]
Chr1:144475725..146185073 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 copy number gain See cases [RCV000053189] Chr1:145601946..146944906 [GRCh38]
Chr1:145764368..147800872 [GRCh37]
Chr1:144475725..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1 copy number loss See cases [RCV000134757] Chr1:145138148..146401981 [GRCh38]
Chr1:149155041..149699396 [GRCh37]
Chr1:147421665..147966020 [NCBI36]
Chr1:1q21.1
benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
NM_005105.4(RBM8A):c.*2586G= single nucleotide variant not specified [RCV000193861] Chr1:145923296 [GRCh38]
Chr1:145511796..145511797 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1(chr1:145438928-145527669)x3 copy number gain Ductal breast carcinoma [RCV000207280] Chr1:145438928..145527669 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1(chr1:145020771-145640129)x3 copy number gain Premature ovarian failure [RCV000225333] Chr1:145020771..145640129 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1(chr1:145368848-145735385)x3 copy number gain See cases [RCV000239850] Chr1:145368848..145735385 [GRCh37]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3 copy number gain See cases [RCV000239925] Chr1:145291030..145735385 [GRCh37]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x3 copy number gain See cases [RCV000239876] Chr1:145387945..145735385 [GRCh37]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1q21.1(chr1:144674799-145735385)x3 copy number gain See cases [RCV000240057] Chr1:144674799..145735385 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x1 copy number loss See cases [RCV000240079] Chr1:145387945..145735385 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144709677-145735385)x3 copy number gain See cases [RCV000240371] Chr1:144709677..145735385 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:145387023-145803834)x1 copy number loss See cases [RCV000449470] Chr1:145387023..145803834 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:145224606-145735326)x3 copy number gain See cases [RCV000446960] Chr1:145224606..145735326 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145895747)x3 copy number gain See cases [RCV000446996] Chr1:145382123..145895747 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145288338-145809279)x3 copy number gain See cases [RCV000446123] Chr1:145288338..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145112506-145735326)x3 copy number gain See cases [RCV000446649] Chr1:145112506..145735326 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:145283118-145735326)x3 copy number gain See cases [RCV000446572] Chr1:145283118..145735326 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:145372549-145809279)x3 copy number gain See cases [RCV000445760] Chr1:145372549..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145387945-145735326)x1 copy number loss See cases [RCV000445806] Chr1:145387945..145735326 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145770627)x3 copy number gain See cases [RCV000445719] Chr1:145382123..145770627 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145387023-145792051)x1 copy number loss See cases [RCV000447711] Chr1:145387023..145792051 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:145388004-146535353)x1 copy number loss See cases [RCV000448068] Chr1:145388004..146535353 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:145387945-145735326)x3 copy number gain See cases [RCV000448218] Chr1:145387945..145735326 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1(chr1:144959474-146030329)x3 copy number gain See cases [RCV000510647] Chr1:144959474..146030329 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_005105.5(RBM8A):c.318C>T (p.Leu106=) single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV000969510]|not specified [RCV000501574] Chr1:145926506 [GRCh38]
Chr1:145508587 [GRCh37]
Chr1:1q21.1
benign|likely benign
NM_005105.5(RBM8A):c.240C>T (p.Val80=) single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV000951560]|not specified [RCV000499769] Chr1:145926584 [GRCh38]
Chr1:145508509 [GRCh37]
Chr1:1q21.1
benign|likely benign
GRCh37/hg19 1q21.1(chr1:145398177-145764679)x1 copy number loss See cases [RCV000510557] Chr1:145398177..145764679 [GRCh37]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.1(chr1:145369199-145803834)x1 copy number loss See cases [RCV000510176] Chr1:145369199..145803834 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145809279)x3 copy number gain See cases [RCV000511462] Chr1:144823069..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145770627)x3 copy number gain See cases [RCV000511766] Chr1:144823069..145770627 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:145368365-145932455)x3 copy number gain See cases [RCV000511073] Chr1:145368365..145932455 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1(chr1:145156448-145829474)x3 copy number gain See cases [RCV000512285] Chr1:145156448..145829474 [GRCh37]
Chr1:1q21.1
likely benign
NC_000001.10:g.(?_145507647)_(145509231_?)del deletion Radial aplasia-thrombocytopenia syndrome [RCV000633531] Chr1:145507647..145509231 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145888926)x1 copy number loss not provided [RCV000684623] Chr1:144823069..145888926 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:145376224-145770626)x3 copy number gain not provided [RCV000684629] Chr1:145376224..145770626 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1(chr1:145387023-145928000)x1 copy number loss not provided [RCV000684630] Chr1:145387023..145928000 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145398177-145809279)x1 copy number loss not provided [RCV000684631] Chr1:145398177..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145368364-145803834)x1 copy number loss not provided [RCV000684627] Chr1:145368364..145803834 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1 copy number loss Radial aplasia-thrombocytopenia syndrome [RCV000709929] Chr1:145415156..145799615 [GRCh37]
Chr1:1q21.1
not provided
NM_005105.5(RBM8A):c.206-20T>C single nucleotide variant not provided [RCV001575323] Chr1:145926638 [GRCh38]
Chr1:145508455 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2
likely pathogenic
Single allele duplication Schizophrenia [RCV000754129] Chr1:145601945..146041785 [GRCh38]
Chr1:1q21.1
likely pathogenic
NC_000001.11:g.(?_145601945)_(146048346_?)del deletion Schizophrenia [RCV000754130] Chr1:145601945..146048346 [GRCh38]
Chr1:1q21.1
likely pathogenic
Single allele duplication Schizophrenia [RCV000754131] Chr1:145601945..146049618 [GRCh38]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1q21.1(chr1:144938320-145747925)x3 copy number gain not provided [RCV000749158] Chr1:144938320..145747925 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1(chr1:145101177-146508774)x3 copy number gain not provided [RCV000749159] Chr1:145101177..146508774 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1(chr1:145319773-145762959)x1 copy number loss not provided [RCV000749160] Chr1:145319773..145762959 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1(chr1:145394955-145762959)x3 copy number gain not provided [RCV000749161] Chr1:145394955..145762959 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1(chr1:145394955-145895948)x3 copy number gain not provided [RCV000749162] Chr1:145394955..145895948 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1(chr1:145394955-145940594)x3 copy number gain not provided [RCV000749163] Chr1:145394955..145940594 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
NM_005105.5(RBM8A):c.*108C>T single nucleotide variant not provided [RCV001564348] Chr1:145925774 [GRCh38]
Chr1:145509319 [GRCh37]
Chr1:1q21.1
likely benign
null single nucleotide variant not provided [RCV001709939] Chr1:145927840 [GRCh38]
Chr1:145507253 [GRCh37]
Chr1:1q21.1
benign
NM_005105.5(RBM8A):c.128-9C>T single nucleotide variant not provided [RCV000950612] Chr1:145926895 [GRCh38]
Chr1:145508198 [GRCh37]
Chr1:1q21.1
benign
NM_005105.5(RBM8A):c.206-13C>A single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV001072154] Chr1:145926631 [GRCh38]
Chr1:145508462 [GRCh37]
Chr1:1q21.1
pathogenic
NM_005105.5(RBM8A):c.205+3_205+6del deletion Radial aplasia-thrombocytopenia syndrome [RCV001072155] Chr1:145926803..145926806 [GRCh38]
Chr1:145508285..145508288 [GRCh37]
Chr1:1q21.1
pathogenic
NC_000001.10:g.(?_145498103)_(145567095_?)dup duplication not provided [RCV001032118] Chr1:145498103..145567095 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_005105.5(RBM8A):c.68-3C>T single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV001060898] Chr1:145927080 [GRCh38]
Chr1:145508013 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV001409517]|not provided [RCV000981787] Chr1:145926559 [GRCh38]
Chr1:145508534 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1(chr1:145395604-145704146) copy number loss Radial aplasia-thrombocytopenia syndrome [RCV000767549] Chr1:145395604..145704146 [GRCh37]
Chr1:1q21.1
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767545] Chr1:145103956..147220326 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:145372549-145770627)x3 copy number gain not provided [RCV000849868] Chr1:145372549..145770627 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145368364-145809279)x3 copy number gain not provided [RCV000849487] Chr1:145368364..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145899214)x3 copy number gain not provided [RCV000846811] Chr1:145382123..145899214 [GRCh37]
Chr1:1q21.1
uncertain significance
Single allele duplication Growth abnormality [RCV000787430] Chr1:145461209..146467333 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145769109)x3 copy number gain not provided [RCV000847355] Chr1:145311524..145769109 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:144884265-145764679)x1 copy number loss not provided [RCV000848594] Chr1:144884265..145764679 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145398236-145792148)x3 copy number gain not provided [RCV000848278] Chr1:145398236..145792148 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145764679)x3 copy number gain not provided [RCV000848643] Chr1:145382123..145764679 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145747910)x3 copy number gain not provided [RCV000847131] Chr1:145382123..145747910 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145225122-145770627)x3 copy number gain not provided [RCV000847763] Chr1:145225122..145770627 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1 copy number loss not provided [RCV000846049] Chr1:145311524..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1 copy number loss not provided [RCV000849695] Chr1:145311524..145809279 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144861071-145792148)x3 copy number gain not provided [RCV000846345] Chr1:144861071..145792148 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:144950620-145764679)x3 copy number gain not provided [RCV000848873] Chr1:144950620..145764679 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145480145-145810881)x3 copy number gain not provided [RCV000849856] Chr1:145480145..145810881 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145369199-145770627)x3 copy number gain not provided [RCV000849905] Chr1:145369199..145770627 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145792148)x3 copy number gain not provided [RCV000848481] Chr1:145382123..145792148 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145376197-145792148)x3 copy number gain not provided [RCV000850022] Chr1:145376197..145792148 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145768023)x3 copy number gain not provided [RCV000846834] Chr1:145375589..145768023 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3 copy number gain not provided [RCV000846856] Chr1:145375589..145600717 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145376197-145764679)x1 copy number loss not provided [RCV000848579] Chr1:145376197..145764679 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3 copy number gain not provided [RCV000847551] Chr1:145375589..145600717 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
null single nucleotide variant not provided [RCV001593400] Chr1:145927306 [GRCh38]
Chr1:145507787 [GRCh37]
Chr1:1q21.1
likely benign
null single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV000952080]|not provided [RCV001593145] Chr1:145927083 [GRCh38]
Chr1:145508010 [GRCh37]
Chr1:1q21.1
benign|likely benign
NM_005105.5(RBM8A):c.68-4C>T single nucleotide variant not provided [RCV000918916] Chr1:145927081 [GRCh38]
Chr1:145508012 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3 copy number gain not provided [RCV001249453] Chr1:145291030..145735385 [GRCh37]
Chr1:1q21.1
not provided
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
null single nucleotide variant not provided [RCV001637722] Chr1:145926026 [GRCh38]
Chr1:145509067 [GRCh37]
Chr1:1q21.1
benign
null single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV001620129] Chr1:145926179 [GRCh38]
Chr1:145508914 [GRCh37]
Chr1:1q21.1
pathogenic
null single nucleotide variant not provided [RCV001587826] Chr1:145926792 [GRCh38]
Chr1:145508301 [GRCh37]
Chr1:1q21.1
likely benign
NC_000001.10:g.(?_145487304)_(145528345_?)dup duplication not provided [RCV001033610] Chr1:145487304..145528345 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_005105.5(RBM8A):c.-19G>T single nucleotide variant Radial aplasia-thrombocytopenia syndrome [RCV001072153] Chr1:145927445 [GRCh38]
Chr1:145507648 [GRCh37]
Chr1:1q21.1
pathogenic
NM_005105.5(RBM8A):c.336_342+2del deletion Radial aplasia-thrombocytopenia syndrome [RCV001053894] Chr1:145926480..145926488 [GRCh38]
Chr1:145508605..145508613 [GRCh37]
Chr1:1q21.1
likely pathogenic
NC_000001.10:g.(?_145498103)_(145538307_?)dup duplication not provided [RCV001031411] Chr1:145498103..145538307 [GRCh37]
Chr1:1q21.1
uncertain significance
NC_000001.10:g.(?_145487304)_(145557112_?)dup duplication not provided [RCV001031413] Chr1:145487304..145557112 [GRCh37]
Chr1:1q21.1
uncertain significance
NC_000001.10:g.(?_145498103)_(145567756_?)dup duplication not provided [RCV001031867] Chr1:145498103..145567756 [GRCh37]
Chr1:1q21.1
uncertain significance
NC_000001.10:g.(?_145487304)_(145567095_?)dup duplication not provided [RCV001032330] Chr1:145487304..145567095 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1(chr1:145288338-146011861)x1 copy number loss not provided [RCV001260117] Chr1:145288338..146011861 [GRCh37]
Chr1:1q21.1
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1 copy number loss See cases [RCV001263044] Chr1:145347631..145833118 [GRCh37]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NC_000001.10:g.(?_145414782)_(145610584_?)dup duplication not provided [RCV001374077] Chr1:145414782..145610584 [GRCh37]
Chr1:1q21.1
uncertain significance
NC_000001.10:g.(?_145414782)_(145509211_?)del deletion not provided [RCV001383168] Chr1:145414782..145509211 [GRCh37]
Chr1:1q21.1
pathogenic
NC_000001.10:g.(?_145507647)_(145555822_?)del deletion not provided [RCV001383557] Chr1:145507647..145555822 [GRCh37]
Chr1:1q21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9905 AgrOrtholog
COSMIC RBM8A COSMIC
Ensembl Genes ENSG00000265241 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358313 UniProtKB/Swiss-Prot
  ENSP00000463058 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487764 UniProtKB/TrEMBL
  ENSP00000488265 UniProtKB/Swiss-Prot
  ENSP00000488887 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369307 UniProtKB/Swiss-Prot
  ENST00000583313 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000632040 UniProtKB/TrEMBL
  ENST00000632555 UniProtKB/Swiss-Prot
  ENST00000633781 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000265241 GTEx
HGNC ID HGNC:9905 ENTREZGENE
Human Proteome Map RBM8A Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA-bd_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_RBM8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9939 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9939 ENTREZGENE
OMIM 274000 OMIM
  605313 OMIM
PANTHER PTHR45894 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34270 PharmGKB
PRINTS RNABINDINGM8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A023T787 ENTREZGENE, UniProtKB/TrEMBL
  A0A060D9J6_HUMAN UniProtKB/TrEMBL
  A0A0J9YW13_HUMAN UniProtKB/TrEMBL
  L8E9A7_HUMAN UniProtKB/TrEMBL
  Q9Y5S9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KQI9 UniProtKB/Swiss-Prot
  Q6FHD1 UniProtKB/Swiss-Prot
  Q6IQ40 UniProtKB/Swiss-Prot
  Q9GZX8 UniProtKB/Swiss-Prot
  Q9NZI4 UniProtKB/Swiss-Prot