RBM10 (RNA binding motif protein 10) - Rat Genome Database

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Gene: RBM10 (RNA binding motif protein 10) Homo sapiens
Analyze
Symbol: RBM10
Name: RNA binding motif protein 10
RGD ID: 732878
HGNC Page HGNC:9896
Description: Enables identical protein binding activity and miRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within negative regulation of RNA metabolic process; negative regulation of vascular associated smooth muscle cell proliferation; and positive regulation of vascular associated smooth muscle cell apoptotic process. Located in nuclear speck. Part of protein-containing complex. Implicated in TARP syndrome; colorectal cancer; lung adenocarcinoma; and lung cancer. Biomarker of hepatocellular carcinoma and lung adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DXS8237E; FLJ40796; g patch domain-containing protein 9; GPATC9; GPATCH9; KIAA0122; MGC1132; MGC997; MINAS-60; RNA-binding motif protein 10; RNA-binding protein 10; RNA-binding protein S1-1; S1-1; TARPS; ZRANB5
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
GRCh38X47,145,221 - 47,186,813 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX47,145,221 - 47,186,813 (+)EnsemblGRCh38hg38GRCh38
GRCh37X47,004,620 - 47,046,212 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,889,575 - 46,931,156 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X46,760,884 - 46,802,465NCBI
CeleraX51,199,950 - 51,241,502 (+)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX44,705,144 - 44,757,310 (+)NCBIHuRef
CHM1_1X47,036,374 - 47,077,701 (+)NCBICHM1_1
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear speck  (IDA)
nucleolus  (IDA,IEA)
nucleus  (IBA,IDA,IEA)
protein-containing complex  (IPI)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal duodenum morphology  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Alveolar ridge overgrowth  (IAGP)
Anteverted nares  (IAGP)
Apnea  (IAGP)
Athetoid cerebral palsy  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Broad-based gait  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous syndactyly  (IAGP)
Cyanosis  (IAGP)
Deep palmar crease  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Failure to thrive  (IAGP)
Finger syndactyly  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of proximal radius  (IAGP)
Hypoplasia of the radius  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Large fontanelles  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Myopia  (IAGP)
Neurodevelopmental delay  (IAGP)
Optic atrophy  (IAGP)
Pectus excavatum  (IAGP)
Persistent left superior vena cava  (IAGP)
Pierre-Robin sequence  (IAGP)
Postaxial polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent antihelix  (IAGP)
Pulmonary hypoplasia  (IAGP)
Rocker bottom foot  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short palpebral fissure  (IAGP)
Short sternum  (IAGP)
Single transverse palmar crease  (IAGP)
Sloping forehead  (IAGP)
Small earlobe  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Tongue nodules  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Wide nasal bridge  (IAGP)
Widely patent fontanelles and sutures  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Imielinski M, etal., Cell. 2012 Sep 14;150(6):1107-20. doi: 10.1016/j.cell.2012.08.029.
3. Increased cell apoptosis in human lung adenocarcinoma and in vivo tumor growth inhibition by RBM10, a tumor suppressor gene. Ji Y, etal., Oncol Lett. 2017 Oct;14(4):4663-4669. doi: 10.3892/ol.2017.6765. Epub 2017 Aug 17.
4. RBM10 inhibits cell proliferation of lung adenocarcinoma via RAP1/AKT/CREB signalling pathway. Jin X, etal., J Cell Mol Med. 2019 Jun;23(6):3897-3904. doi: 10.1111/jcmm.14263. Epub 2019 Apr 6.
5. A Splicing-Independent Function of RBM10 Controls Specific 3' UTR Processing to Regulate Cardiac Hypertrophy. Mohan N, etal., Cell Rep. 2018 Sep 25;24(13):3539-3553. doi: 10.1016/j.celrep.2018.08.077.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Comprehensive genomic profile of Chinese lung cancer patients and mutation characteristics of individuals resistant to icotinib/gefitinib. Shang Y, etal., Sci Rep. 2020 Nov 20;10(1):20243. doi: 10.1038/s41598-020-76791-y.
11. Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer. Xu T, etal., Front Oncol. 2020 Oct 19;10:568911. doi: 10.3389/fonc.2020.568911. eCollection 2020.
12. A gene mutation in RNA-binding protein 10 is associated with lung adenocarcinoma progression and poor prognosis. Yin LL, etal., Oncol Lett. 2018 Nov;16(5):6283-6292. doi: 10.3892/ol.2018.9496. Epub 2018 Sep 24.
13. Protective effect of the RNA-binding protein RBM10 in hepatocellular carcinoma. Zhao Z, etal., Eur Rev Med Pharmacol Sci. 2020 Jun;24(11):6005-6013. doi: 10.26355/eurrev_202006_21494.
Additional References at PubMed
PMID:5410571   PMID:8125298   PMID:8590280   PMID:8760884   PMID:8808293   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11944989   PMID:12477932   PMID:14293686   PMID:14559993  
PMID:14702039   PMID:15302935   PMID:15489336   PMID:16169070   PMID:16189514   PMID:16344560   PMID:16381901   PMID:16552754   PMID:16713569   PMID:17081983   PMID:17332742   PMID:17620599  
PMID:17707232   PMID:17932509   PMID:18029348   PMID:18271526   PMID:18315527   PMID:18669648   PMID:18820371   PMID:18854154   PMID:20451169   PMID:20462248   PMID:20467437   PMID:20516061  
PMID:21145461   PMID:21873635   PMID:22113938   PMID:22268729   PMID:22365833   PMID:22412018   PMID:22658674   PMID:22751105   PMID:23022380   PMID:23084401   PMID:23184937   PMID:23294349  
PMID:23398456   PMID:24000153   PMID:24332178   PMID:24332808   PMID:24337577   PMID:24530524   PMID:24657165   PMID:24711643   PMID:24797263   PMID:24923560   PMID:24980433   PMID:24981860  
PMID:25416956   PMID:25515538   PMID:25796446   PMID:25798074   PMID:25889998   PMID:26460568   PMID:26496610   PMID:26527279   PMID:26693507   PMID:26751795   PMID:26853560   PMID:26871637  
PMID:26998913   PMID:27025967   PMID:27248496   PMID:27591049   PMID:28065597   PMID:28091594   PMID:28288037   PMID:28296677   PMID:28302793   PMID:28347232   PMID:28379442   PMID:28416769  
PMID:28431233   PMID:28514442   PMID:28581483   PMID:28586478   PMID:28634282   PMID:28662214   PMID:28728573   PMID:28977666   PMID:29021621   PMID:29274279   PMID:29298432   PMID:29331416  
PMID:29395067   PMID:29449217   PMID:29450990   PMID:29507755   PMID:29656893   PMID:29802200   PMID:29844126   PMID:29884807   PMID:30196744   PMID:30209976   PMID:30217970   PMID:30403180  
PMID:30442662   PMID:30483773   PMID:30585729   PMID:30773093   PMID:30804502   PMID:30908700   PMID:31010829   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31160578   PMID:31239290  
PMID:31527668   PMID:31536960   PMID:31586073   PMID:31591476   PMID:31665637   PMID:31669268   PMID:31820547   PMID:31980649   PMID:32041737   PMID:32296183   PMID:32360748   PMID:32382008  
PMID:32432721   PMID:32538781   PMID:32552912   PMID:32698014   PMID:32780723   PMID:32807901   PMID:32812661   PMID:32814053   PMID:32908313   PMID:32947864   PMID:33064970   PMID:33130397  
PMID:33306668   PMID:33340101   PMID:33397691   PMID:33515724   PMID:33536335   PMID:33640491   PMID:33658012   PMID:33731348   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34133714  
PMID:34244565   PMID:34315543   PMID:34373451   PMID:34576144   PMID:34638866   PMID:34702444   PMID:34728620   PMID:35013218   PMID:35140242   PMID:35198878   PMID:35253629   PMID:35271311  


Genomics

Comparative Map Data
RBM10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X47,145,221 - 47,186,813 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX47,145,221 - 47,186,813 (+)EnsemblGRCh38hg38GRCh38
GRCh37X47,004,620 - 47,046,212 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,889,575 - 46,931,156 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X46,760,884 - 46,802,465NCBI
CeleraX51,199,950 - 51,241,502 (+)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX44,705,144 - 44,757,310 (+)NCBIHuRef
CHM1_1X47,036,374 - 47,077,701 (+)NCBICHM1_1
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBIT2T-CHM13v2.0
Rbm10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,483,596 - 20,517,128 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX20,483,742 - 20,517,140 (+)EnsemblGRCm39 Ensembl
GRCm38X20,617,357 - 20,650,889 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,617,503 - 20,650,901 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X20,194,629 - 20,228,031 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X19,776,955 - 19,807,848 (+)NCBIMGSCv36mm8
CeleraX18,748,266 - 18,781,340 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
Rbm10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,540,399 - 1,572,571 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX1,540,398 - 1,572,575 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX1,574,419 - 1,606,516 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0X5,050,121 - 5,082,214 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0X1,365,434 - 1,397,516 (-)NCBIRnor_WKY
Rnor_6.0X1,754,869 - 1,786,973 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX1,754,861 - 1,786,978 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X2,548,300 - 2,580,026 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,957,747 - 12,989,619 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X12,963,302 - 12,995,175 (-)NCBI
CeleraX2,104,400 - 2,136,451 (-)NCBICelera
Cytogenetic MapXq11NCBI
Rbm10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516904,062 - 934,313 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955516904,852 - 934,313 (-)NCBIChiLan1.0ChiLan1.0
RBM10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,440,586 - 47,481,418 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,440,815 - 47,481,204 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X39,582,480 - 39,623,749 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RBM10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,746,959 - 40,776,764 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,747,178 - 40,776,742 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,122,366 - 15,151,898 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X40,881,422 - 40,910,736 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX40,881,685 - 40,910,731 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X40,869,124 - 40,898,424 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X40,856,781 - 40,886,306 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X40,949,871 - 40,979,406 (+)NCBIUU_Cfam_GSD_1.0
Rbm10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,083,132 - 33,111,429 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493650212,923,890 - 12,952,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,773,232 - 41,803,653 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,773,232 - 41,803,656 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,808,876 - 46,820,384 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBM10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,339,653 - 44,373,509 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX44,339,877 - 44,373,339 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660769,597,361 - 9,631,993 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbm10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248873,923,986 - 3,957,133 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248873,921,934 - 3,953,739 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
sWXD3383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,031,325 - 47,031,458UniSTSGRCh37
Build 36X46,916,269 - 46,916,402RGDNCBI36
CeleraX51,226,615 - 51,226,748RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,742,594 - 44,742,727UniSTS
D10Bir5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,687,369 - 21,687,444UniSTSGRCh37
GRCh371437,132,395 - 37,132,470UniSTSGRCh37
Build 361436,202,146 - 36,202,221RGDNCBI36
Celera1416,995,919 - 16,995,994RGD
Celera2021,761,277 - 21,761,352UniSTS
HuRef2021,650,075 - 21,650,150UniSTS
HuRef1417,246,749 - 17,246,824UniSTS
G26316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,045,940 - 47,046,163UniSTSGRCh37
Build 36X46,930,884 - 46,931,107RGDNCBI36
CeleraX51,241,230 - 51,241,453RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,757,036 - 44,757,259UniSTS
DXS7015E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,046,049 - 47,046,189UniSTSGRCh37
Build 36X46,930,993 - 46,931,133RGDNCBI36
CeleraX51,241,339 - 51,241,479RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,757,145 - 44,757,285UniSTS
GeneMap99-GB4 RH MapX138.25UniSTS
AFM206zf2  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
Whitehead-RH Map3173.5UniSTS
Whitehead-YAC Contig Map3 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1378
Count of miRNA genes:578
Interacting mature miRNAs:643
Transcripts:ENST00000329236, ENST00000345781, ENST00000377604, ENST00000478410, ENST00000496012
Prediction methods:Miranda, Pita, 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 2439 2883 1718 616 1910 457 4333 2103 3634 415 1460 1611 175 1 1204 2764 6 2
Low 108 8 8 41 8 24 94 100 4 2 24
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK000962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW248804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB183041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329236   ⟹   ENSP00000328848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,145,447 - 47,186,812 (+)Ensembl
RefSeq Acc Id: ENST00000345781   ⟹   ENSP00000329659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,145,279 - 47,186,813 (+)Ensembl
RefSeq Acc Id: ENST00000377604   ⟹   ENSP00000366829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,145,221 - 47,186,813 (+)Ensembl
RefSeq Acc Id: ENST00000478410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,179,315 - 47,181,543 (+)Ensembl
RefSeq Acc Id: ENST00000496012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,175,012 - 47,181,762 (+)Ensembl
RefSeq Acc Id: ENST00000628161   ⟹   ENSP00000486115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,145,279 - 47,186,813 (+)Ensembl
RefSeq Acc Id: NM_001204466   ⟹   NP_001191395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)ENTREZGENE
HuRefX44,705,144 - 44,757,310 (+)ENTREZGENE
CHM1_1X47,036,374 - 47,077,701 (+)NCBI
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001204467   ⟹   NP_001191396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)ENTREZGENE
HuRefX44,705,144 - 44,757,310 (+)ENTREZGENE
CHM1_1X47,036,374 - 47,077,701 (+)NCBI
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001204468   ⟹   NP_001191397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)ENTREZGENE
HuRefX44,705,144 - 44,757,310 (+)ENTREZGENE
CHM1_1X47,036,374 - 47,077,701 (+)NCBI
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005676   ⟹   NP_005667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)ENTREZGENE
Build 36X46,889,575 - 46,931,154 (+)NCBI Archive
HuRefX44,705,144 - 44,757,310 (+)ENTREZGENE
CHM1_1X47,036,374 - 47,077,701 (+)NCBI
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152856   ⟹   NP_690595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)ENTREZGENE
Build 36X46,889,575 - 46,931,156 (+)NCBI Archive
HuRefX44,705,144 - 44,757,310 (+)ENTREZGENE
CHM1_1X47,036,374 - 47,077,701 (+)NCBI
T2T-CHM13v2.0X46,554,946 - 46,596,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272677   ⟹   XP_005272734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272678   ⟹   XP_005272735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272679   ⟹   XP_005272736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
GRCh37X47,004,617 - 47,046,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047442551   ⟹   XP_047298507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
RefSeq Acc Id: XM_047442552   ⟹   XP_047298508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
RefSeq Acc Id: XM_047442553   ⟹   XP_047298509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,173,128 - 47,186,813 (+)NCBI
RefSeq Acc Id: XM_047442554   ⟹   XP_047298510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
RefSeq Acc Id: XM_047442555   ⟹   XP_047298511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,221 - 47,186,813 (+)NCBI
RefSeq Acc Id: XM_047442556   ⟹   XP_047298512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,179,546 - 47,186,813 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001191395 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191396 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191397 (Get FASTA)   NCBI Sequence Viewer  
  NP_005667 (Get FASTA)   NCBI Sequence Viewer  
  NP_690595 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272734 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272735 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272736 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298507 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298508 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298511 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298512 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB33572 (Get FASTA)   NCBI Sequence Viewer  
  AAH00681 (Get FASTA)   NCBI Sequence Viewer  
  AAH03089 (Get FASTA)   NCBI Sequence Viewer  
  AAH04181 (Get FASTA)   NCBI Sequence Viewer  
  AAH08733 (Get FASTA)   NCBI Sequence Viewer  
  AAH24153 (Get FASTA)   NCBI Sequence Viewer  
  ADO22459 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33869 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33870 (Get FASTA)   NCBI Sequence Viewer  
  BAA09471 (Get FASTA)   NCBI Sequence Viewer  
  BAF85447 (Get FASTA)   NCBI Sequence Viewer  
  CAB70731 (Get FASTA)   NCBI Sequence Viewer  
  CAD97933 (Get FASTA)   NCBI Sequence Viewer  
  EAW59283 (Get FASTA)   NCBI Sequence Viewer  
  EAW59284 (Get FASTA)   NCBI Sequence Viewer  
  EAW59285 (Get FASTA)   NCBI Sequence Viewer  
  EAW59286 (Get FASTA)   NCBI Sequence Viewer  
  EAW59287 (Get FASTA)   NCBI Sequence Viewer  
  P0DW28 (Get FASTA)   NCBI Sequence Viewer  
  P98175 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001191397   ⟸   NM_001204468
- Peptide Label: isoform 5
- UniProtKB: Q7Z3D7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005667   ⟸   NM_005676
- Peptide Label: isoform 1
- UniProtKB: Q9NTB1 (UniProtKB/Swiss-Prot),   P98175 (UniProtKB/Swiss-Prot),   A0A0S2Z4W4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191396   ⟸   NM_001204467
- Peptide Label: isoform 4
- UniProtKB: P98175 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191395   ⟸   NM_001204466
- Peptide Label: isoform 3
- UniProtKB: P98175 (UniProtKB/Swiss-Prot),   Q7Z3D7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_690595   ⟸   NM_152856
- Peptide Label: isoform 2
- UniProtKB: P98175 (UniProtKB/Swiss-Prot),   A0A0S2Z4X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272734   ⟸   XM_005272677
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005272735   ⟸   XM_005272678
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005272736   ⟸   XM_005272679
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000329659   ⟸   ENST00000345781
RefSeq Acc Id: ENSP00000366829   ⟸   ENST00000377604
RefSeq Acc Id: ENSP00000486115   ⟸   ENST00000628161
RefSeq Acc Id: ENSP00000328848   ⟸   ENST00000329236
RefSeq Acc Id: XP_047298507   ⟸   XM_047442551
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047298510   ⟸   XM_047442554
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047298508   ⟸   XM_047442552
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047298511   ⟸   XM_047442555
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047298509   ⟸   XM_047442553
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047298512   ⟸   XM_047442556
- Peptide Label: isoform X9
Protein Domains
C2H2-type   G-patch   RanBP2-type   RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P98175-F1-model_v2 AlphaFold P98175 1-930 view protein structure

Promoters
RGD ID:6809184
Promoter ID:HG_KWN:66580
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000329236,   NM_152856,   OTTHUMT00000056378,   UC004DHE.1,   UC004DHF.1,   UC004DHH.1,   UC004DHI.1,   UC010NHQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,889,364 - 46,889,864 (+)MPROMDB
RGD ID:6814433
Promoter ID:HG_MGC:1014
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:BC024153
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,890,656 - 46,891,156 (+)MPROMDB
RGD ID:6815691
Promoter ID:HG_MRA:16978
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:BC000681
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,915,376 - 46,915,876 (+)MPROMDB
RGD ID:6809171
Promoter ID:HG_KWN:66582
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056379
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,918,751 - 46,919,251 (+)MPROMDB
RGD ID:6809172
Promoter ID:HG_KWN:66583
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056380
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,922,876 - 46,924,122 (+)MPROMDB
RGD ID:13605146
Promoter ID:EPDNEW_H28756
Type:initiation region
Name:RBM10_2
Description:RNA binding motif protein 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28754  EPDNEW_H28758  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,144,837 - 47,144,897EPDNEW
RGD ID:13605148
Promoter ID:EPDNEW_H28758
Type:initiation region
Name:RBM10_1
Description:RNA binding motif protein 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28754  EPDNEW_H28756  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,259 - 47,145,319EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005676.5(RBM10):c.1893dup (p.Pro632fs) duplication TARP syndrome [RCV000012409] ChrX:47182268..47182269 [GRCh38]
ChrX:47041667..47041668 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.1235G>A (p.Trp412Ter) single nucleotide variant TARP syndrome [RCV000012410] ChrX:47180493 [GRCh38]
ChrX:47039892 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_005676.5(RBM10):c.1269T>C (p.Gly423=) single nucleotide variant not provided [RCV002055200]|not specified [RCV000081323] ChrX:47181235 [GRCh38]
ChrX:47040634 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.448C>T (p.Gln150Ter) single nucleotide variant TARP syndrome [RCV000125462] ChrX:47173143 [GRCh38]
ChrX:47032542 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.201+12G>A single nucleotide variant not provided [RCV000514087] ChrX:47169510 [GRCh38]
ChrX:47028909 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.1693+2dup duplication not provided [RCV000329414] ChrX:47181867..47181868 [GRCh38]
ChrX:47041266..47041267 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.170_171del (p.Asp56_Tyr57insTer) deletion not provided [RCV000347173] ChrX:47169466..47169467 [GRCh38]
ChrX:47028865..47028866 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.1104A>G (p.Pro368=) single nucleotide variant not provided [RCV000322295] ChrX:47180253 [GRCh38]
ChrX:47039652 [GRCh37]
ChrX:Xp11.3
conflicting interpretations of pathogenicity|uncertain significance
NM_005676.5(RBM10):c.1492C>T (p.Arg498Cys) single nucleotide variant not provided [RCV000294035] ChrX:47181563 [GRCh38]
ChrX:47040962 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_005676.5(RBM10):c.2765T>C (p.Met922Thr) single nucleotide variant not provided [RCV000489807] ChrX:47186571 [GRCh38]
ChrX:47045970 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.1473_1474del (p.Ser492fs) microsatellite Inborn genetic diseases [RCV000623969] ChrX:47181541..47181542 [GRCh38]
ChrX:47040940..47040941 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.2175G>T (p.Pro725=) single nucleotide variant not provided [RCV000591251] ChrX:47185450 [GRCh38]
ChrX:47044849 [GRCh37]
ChrX:Xp11.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_005676.5(RBM10):c.1435+4del deletion not provided [RCV000479448] ChrX:47181405 [GRCh38]
ChrX:47040804 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005676.5(RBM10):c.457G>A (p.Gly153Ser) single nucleotide variant not provided [RCV000498839] ChrX:47173152 [GRCh38]
ChrX:47032551 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.1249-1G>A single nucleotide variant TARP syndrome [RCV000503825] ChrX:47181214 [GRCh38]
ChrX:47040613 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47035430)x2 copy number gain See cases [RCV000510283] ChrX:46950670..47035430 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005676.5(RBM10):c.2668-2A>G single nucleotide variant not provided [RCV000497373] ChrX:47186472 [GRCh38]
ChrX:47045871 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_005676.5(RBM10):c.159del (p.Lys54fs) deletion TARP syndrome [RCV000497747] ChrX:47169456 [GRCh38]
ChrX:47028855 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs) microsatellite Inborn genetic diseases [RCV000492585] ChrX:47181316..47181317 [GRCh38]
ChrX:47040715..47040716 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.2214_2217del (p.Ser738fs) deletion not provided [RCV000494572] ChrX:47185487..47185490 [GRCh38]
ChrX:47044886..47044889 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47024580)x4 copy number gain See cases [RCV000511948] ChrX:46950670..47024580 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_005676.5(RBM10):c.201+20C>T single nucleotide variant not provided [RCV000514835] ChrX:47169518 [GRCh38]
ChrX:47028917 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1100A>C (p.His367Pro) single nucleotide variant Inborn genetic diseases [RCV000624120] ChrX:47180249 [GRCh38]
ChrX:47039648 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_005676.5(RBM10):c.2544C>T (p.Phe848=) single nucleotide variant not provided [RCV000594089] ChrX:47186264 [GRCh38]
ChrX:47045663 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.663+129TC[17] microsatellite not provided [RCV001609045] ChrX:47176714..47176715 [GRCh38]
ChrX:47036113..47036114 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.2625C>T (p.Ser875=) single nucleotide variant not provided [RCV000977738] ChrX:47186345 [GRCh38]
ChrX:47045744 [GRCh37]
ChrX:Xp11.3
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_005676.5(RBM10):c.2296C>T (p.Arg766Cys) single nucleotide variant not provided [RCV001091013] ChrX:47185571 [GRCh38]
ChrX:47044970 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_005676.5(RBM10):c.1171T>G (p.Ser391Ala) single nucleotide variant not provided [RCV000999409] ChrX:47180429 [GRCh38]
ChrX:47039828 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.2319G>A (p.Ala773=) single nucleotide variant not provided [RCV000926916] ChrX:47185594 [GRCh38]
ChrX:47044993 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.2781C>T (p.Asn927=) single nucleotide variant not provided [RCV000982704] ChrX:47186587 [GRCh38]
ChrX:47045986 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1758C>T (p.Thr586=) single nucleotide variant not provided [RCV000970389] ChrX:47182015 [GRCh38]
ChrX:47041414 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.309G>C (p.Arg103=) single nucleotide variant not provided [RCV000898398] ChrX:47171135 [GRCh38]
ChrX:47030534 [GRCh37]
ChrX:Xp11.3
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.23(chrX:47039376-47040521) copy number loss TARP syndrome [RCV000767799] ChrX:47039376..47040521 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005676.5(RBM10):c.1175A>G (p.Asn392Ser) single nucleotide variant not provided [RCV000894625] ChrX:47180433 [GRCh38]
ChrX:47039832 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1536C>T (p.Ala512=) single nucleotide variant not provided [RCV000892385] ChrX:47181607 [GRCh38]
ChrX:47041006 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.2751A>C (p.Thr917=) single nucleotide variant not provided [RCV000942916] ChrX:47186557 [GRCh38]
ChrX:47045956 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1752C>T (p.Pro584=) single nucleotide variant not provided [RCV000896608] ChrX:47182009 [GRCh38]
ChrX:47041408 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.361GAG[4] (p.Glu125del) microsatellite not provided [RCV000891556] ChrX:47171187..47171189 [GRCh38]
ChrX:47030586..47030588 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.724+2T>C single nucleotide variant TARP syndrome [RCV000850592] ChrX:47179165 [GRCh38]
ChrX:47038564 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_005676.5(RBM10):c.355_358del (p.Glu119fs) deletion not provided [RCV001836905] ChrX:47171180..47171183 [GRCh38]
ChrX:47030579..47030582 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005676.5(RBM10):c.698del (p.Cys233fs) deletion not provided [RCV001009302] ChrX:47179137 [GRCh38]
ChrX:47038536 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.2565dup (p.Leu856fs) duplication not provided [RCV001588494] ChrX:47186282..47186283 [GRCh38]
ChrX:47045681..47045682 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.1895C>T (p.Pro632Leu) single nucleotide variant not provided [RCV001586776] ChrX:47182271 [GRCh38]
ChrX:47041670 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.1596C>T (p.Pro532=) single nucleotide variant not provided [RCV000916772] ChrX:47181769 [GRCh38]
ChrX:47041168 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1551C>T (p.Ser517=) single nucleotide variant not provided [RCV000980820] ChrX:47181622 [GRCh38]
ChrX:47041021 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.2106A>G (p.Ala702=) single nucleotide variant not provided [RCV000894272] ChrX:47185307 [GRCh38]
ChrX:47044706 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.2295A>T (p.Arg765=) single nucleotide variant not provided [RCV000887849] ChrX:47185570 [GRCh38]
ChrX:47044969 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.2245C>A (p.Arg749=) single nucleotide variant not provided [RCV000935761] ChrX:47185520 [GRCh38]
ChrX:47044919 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1230C>G (p.Ala410=) single nucleotide variant not provided [RCV000913843] ChrX:47180488 [GRCh38]
ChrX:47039887 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.-149T>C single nucleotide variant not provided [RCV001719350] ChrX:47145462 [GRCh38]
ChrX:47004861 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.2375G>A (p.Arg792Gln) single nucleotide variant not provided [RCV001545441] ChrX:47185735 [GRCh38]
ChrX:47045134 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.577-267G>A single nucleotide variant not provided [RCV001677914] ChrX:47176233 [GRCh38]
ChrX:47035632 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.-172C>T single nucleotide variant not provided [RCV001548244] ChrX:47145439 [GRCh38]
ChrX:47004838 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro) single nucleotide variant not provided [RCV001573613] ChrX:47182267 [GRCh38]
ChrX:47041666 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_005676.5(RBM10):c.1951-60G>C single nucleotide variant not provided [RCV001587015] ChrX:47184995 [GRCh38]
ChrX:47044394 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.663+129TC[16] microsatellite not provided [RCV001651685] ChrX:47176714..47176715 [GRCh38]
ChrX:47036113..47036114 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.396dup (p.Leu133fs) duplication TARP syndrome [RCV001253313] ChrX:47171221..47171222 [GRCh38]
ChrX:47030620..47030621 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_005676.5(RBM10):c.1421A>T (p.Asp474Val) single nucleotide variant Intellectual disability [RCV001252604] ChrX:47181387 [GRCh38]
ChrX:47040786 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 copy number gain not provided [RCV001258952] ChrX:46942052..47379255 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005676.5(RBM10):c.1804_1805del (p.Ser602fs) microsatellite TARP syndrome [RCV001255137] ChrX:47182178..47182179 [GRCh38]
ChrX:47041577..47041578 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005676.5(RBM10):c.117_132del (p.Met39fs) deletion TARP syndrome [RCV001267658] ChrX:47169412..47169427 [GRCh38]
ChrX:47028811..47028826 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_005676.5(RBM10):c.1476G>T (p.Ser492=) single nucleotide variant TARP syndrome [RCV001331454] ChrX:47181547 [GRCh38]
ChrX:47040946 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication X-linked epilepsy-learning disabilities-behavior disorders syndrome [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005676.5(RBM10):c.2350C>T (p.His784Tyr) single nucleotide variant not provided [RCV001344161] ChrX:47185625 [GRCh38]
ChrX:47045024 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.433-289C>T single nucleotide variant not provided [RCV001691509] ChrX:47172839 [GRCh38]
ChrX:47032238 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.17+165_17+171dup duplication not provided [RCV001694958] ChrX:47147662..47147663 [GRCh38]
ChrX:47007061..47007062 [GRCh37]
ChrX:Xp11.3
benign
NM_005676.5(RBM10):c.1909A>G (p.Lys637Glu) single nucleotide variant not provided [RCV001760824] ChrX:47182285 [GRCh38]
ChrX:47041684 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.373G>T (p.Glu125Ter) single nucleotide variant TARP syndrome [RCV002273081] ChrX:47171199 [GRCh38]
ChrX:47030598 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.-53G>A single nucleotide variant TARP syndrome [RCV001761710] ChrX:47147429 [GRCh38]
ChrX:47006828 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.1722C>G (p.Tyr574Ter) single nucleotide variant TARP syndrome [RCV001784904] ChrX:47181979 [GRCh38]
ChrX:47041378 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_005676.5(RBM10):c.47A>G (p.Tyr16Cys) single nucleotide variant not provided [RCV001764111] ChrX:47169344 [GRCh38]
ChrX:47028743 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.1673A>G (p.Gln558Arg) single nucleotide variant not provided [RCV001772996] ChrX:47181846 [GRCh38]
ChrX:47041245 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.464A>G (p.Gln155Arg) single nucleotide variant not provided [RCV001765245] ChrX:47173159 [GRCh38]
ChrX:47032558 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.2514C>G (p.Tyr838Ter) single nucleotide variant TARP syndrome [RCV001808163] ChrX:47186148 [GRCh38]
ChrX:47045547 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005676.5(RBM10):c.1357T>A (p.Ser453Thr) single nucleotide variant not provided [RCV002276331] ChrX:47181323 [GRCh38]
ChrX:47040722 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.2355+8C>T single nucleotide variant not provided [RCV002276471] ChrX:47185638 [GRCh38]
ChrX:47045037 [GRCh37]
ChrX:Xp11.3
likely benign
NM_005676.5(RBM10):c.2537+1G>A single nucleotide variant not provided [RCV002263545] ChrX:47186172 [GRCh38]
ChrX:47045571 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_005676.5(RBM10):c.292C>T (p.Arg98Ter) single nucleotide variant Neurodevelopmental delay [RCV002274404] ChrX:47171118 [GRCh38]
ChrX:47030517 [GRCh37]
ChrX:Xp11.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9896 AgrOrtholog
COSMIC RBM10 COSMIC
Ensembl Genes ENSG00000182872 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000328848 ENTREZGENE
  ENSP00000328848.8 UniProtKB/Swiss-Prot
  ENSP00000329659 ENTREZGENE
  ENSP00000329659.6 UniProtKB/Swiss-Prot
  ENSP00000366829 ENTREZGENE
  ENSP00000366829.3 UniProtKB/Swiss-Prot
  ENSP00000486115 ENTREZGENE
  ENSP00000486115.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329236 ENTREZGENE
  ENST00000329236.8 UniProtKB/Swiss-Prot
  ENST00000345781 ENTREZGENE
  ENST00000345781.10 UniProtKB/Swiss-Prot
  ENST00000377604 ENTREZGENE
  ENST00000377604.8 UniProtKB/Swiss-Prot
  ENST00000628161 ENTREZGENE
  ENST00000628161.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182872 GTEx
HGNC ID HGNC:9896 ENTREZGENE
Human Proteome Map RBM10 Human Proteome Map
InterPro G_patch_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OCRE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM10_OCRE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM10_RRM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RanBP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RanBP2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8241 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8241 ENTREZGENE
OMIM 300080 OMIM
  311900 OMIM
PANTHER PTHR13948:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G-patch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OCRE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-RanBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34259 PharmGKB
PROSITE G_PATCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RANBP2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RANBP2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_patch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_RBZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4W4 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4X1 ENTREZGENE, UniProtKB/TrEMBL
  MNS60_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P98175 ENTREZGENE
  Q6PKH5_HUMAN UniProtKB/TrEMBL
  Q7Z3D7 ENTREZGENE, UniProtKB/TrEMBL
  Q9NTB1 ENTREZGENE
  RBM10_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0A0MR66 UniProtKB/Swiss-Prot
  C4AM81 UniProtKB/Swiss-Prot
  Q14136 UniProtKB/Swiss-Prot
  Q5JRR2 UniProtKB/Swiss-Prot
  Q9BTE4 UniProtKB/Swiss-Prot
  Q9BTX0 UniProtKB/Swiss-Prot
  Q9NTB1 UniProtKB/Swiss-Prot