BRCC3 (BRCA1/BRCA2-containing complex subunit 3) - Rat Genome Database

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Gene: BRCC3 (BRCA1/BRCA2-containing complex subunit 3) Homo sapiens
Analyze
Symbol: BRCC3
Name: BRCA1/BRCA2-containing complex subunit 3
RGD ID: 1344323
HGNC Page HGNC
Description: Exhibits enzyme regulator activity; peptidase activity; and polyubiquitin modification-dependent protein binding activity. Involved in several processes, including histone H2A K63-linked deubiquitination; response to X-ray; and signal transduction involved in G2 DNA damage checkpoint. Localizes to cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRCA1-A complex subunit BRCC36; BRCA1/BRCA2-containing complex subunit 36; BRCA1/BRCA2-containing complex, subunit 3; BRCC36; BRISC complex subunit BRCC36; C6.1A; CXorf53; lys-63-specific deubiquitinase BRCC36; RP11-143H17.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BRCC3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,071,420 - 155,123,077 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX155,071,420 - 155,123,074 (+)EnsemblGRCh38hg38GRCh38
GRCh38X155,071,403 - 155,126,766 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,299,783 - 154,351,352 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,952,904 - 154,004,543 (+)NCBINCBI36hg18NCBI36
Build 34X153,863,504 - 153,915,052NCBI
CeleraX154,458,427 - 154,510,104 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,845,949 - 142,896,583 (+)NCBIHuRef
CHM1_1X154,211,322 - 154,263,032 (+)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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1303175   PMID:8247530   PMID:11076863   PMID:12477932   PMID:14636569   PMID:14737182   PMID:15342556   PMID:15489334   PMID:15489336   PMID:16189514   PMID:16381901   PMID:17143545  
PMID:17353931   PMID:17525341   PMID:17664283   PMID:18077395   PMID:19015238   PMID:19202061   PMID:19214193   PMID:19261746   PMID:19261748   PMID:19261749   PMID:19305427   PMID:19380743  
PMID:19615732   PMID:20032457   PMID:20656689   PMID:20656690   PMID:21282113   PMID:21335604   PMID:21596366   PMID:21873635   PMID:22357538   PMID:22689573   PMID:22863883   PMID:22990118  
PMID:23211528   PMID:23264621   PMID:24075985   PMID:24292625   PMID:25071155   PMID:25132264   PMID:25184681   PMID:25252691   PMID:25283148   PMID:25337721   PMID:26001790   PMID:26024915  
PMID:26186194   PMID:26195665   PMID:26344097   PMID:26496610   PMID:26760575   PMID:26972000   PMID:27175567   PMID:27288411   PMID:27880917   PMID:27993934   PMID:28190767   PMID:28215707  
PMID:28238526   PMID:28514442   PMID:28675297   PMID:29053956   PMID:29229926   PMID:29509190   PMID:29540532   PMID:29656893   PMID:30272359   PMID:30323974   PMID:30344098   PMID:30347231  
PMID:30686098   PMID:30755420   PMID:30787184   PMID:30804502   PMID:31048545   PMID:31142841   PMID:31184779   PMID:31253574   PMID:31340145   PMID:31576005   PMID:31787240   PMID:31866999  
PMID:31911859   PMID:31980649   PMID:32296183  


Genomics

Comparative Map Data
BRCC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,071,420 - 155,123,077 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX155,071,420 - 155,123,074 (+)EnsemblGRCh38hg38GRCh38
GRCh38X155,071,403 - 155,126,766 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,299,783 - 154,351,352 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,952,904 - 154,004,543 (+)NCBINCBI36hg18NCBI36
Build 34X153,863,504 - 153,915,052NCBI
CeleraX154,458,427 - 154,510,104 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,845,949 - 142,896,583 (+)NCBIHuRef
CHM1_1X154,211,322 - 154,263,032 (+)NCBICHM1_1
Brcc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,460,234 - 74,499,307 (+)NCBIGRCm39mm39
GRCm39 EnsemblX74,460,234 - 74,497,607 (+)Ensembl
GRCm38X75,416,628 - 75,455,702 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,416,628 - 75,454,001 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X72,661,967 - 72,701,040 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X71,669,420 - 71,706,717 (+)NCBImm8
CeleraX66,818,616 - 66,858,058 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Brcc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.291,986,942 - 1,989,484 (+)NCBI
Rnor_6.0 Ensembl99,863,404 - 9,865,920 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.099,863,380 - 9,865,920 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.098,864,902 - 8,867,442 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,530,917 - 6,533,459 (-)NCBICelera
Cytogenetic Map9q12NCBI
Brcc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594554,081 - 613,661 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955594551,407 - 613,772 (-)NCBIChiLan1.0ChiLan1.0
BRCC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X154,389,179 - 154,431,616 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX154,389,283 - 154,428,669 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X144,550,320 - 144,592,795 (+)NCBIMhudiblu_PPA_v0panPan3
BRCC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X123,081,262 - 123,143,509 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX123,081,050 - 123,140,133 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX108,074,648 - 108,136,853 (+)NCBI
ROS_Cfam_1.0X126,208,828 - 126,271,057 (+)NCBI
UMICH_Zoey_3.1X121,956,711 - 122,018,913 (+)NCBI
UNSW_CanFamBas_1.0X124,479,132 - 124,541,327 (+)NCBI
UU_Cfam_GSD_1.0X124,199,851 - 124,262,068 (+)NCBI
Brcc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,982,639 - 120,022,107 (+)NCBI
SpeTri2.0NW_004936927341,114 - 380,817 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BRCC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,383,414 - 125,439,082 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,383,392 - 125,439,082 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,991,891 - 143,046,729 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BRCC3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,358,759 - 129,406,293 (+)NCBI
ChlSab1.1 EnsemblX129,358,862 - 129,403,352 (+)Ensembl
Brcc3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624963142,987 - 212,190 (-)NCBI

Position Markers
RH79163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375175,737,294 - 175,737,474UniSTSGRCh37
GRCh37X154,350,762 - 154,350,942UniSTSGRCh37
Build 36X154,003,956 - 154,004,136RGDNCBI36
Celera5172,765,456 - 172,765,636UniSTS
CeleraX154,509,517 - 154,509,697RGD
Cytogenetic Map5q35.2UniSTS
Cytogenetic MapXq28UniSTS
HuRef5170,661,862 - 170,662,042UniSTS
HuRefX142,895,996 - 142,896,176UniSTS
ECD00985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,309,829 - 154,310,711UniSTSGRCh37
Build 36X153,963,023 - 153,963,905RGDNCBI36
CeleraX154,468,588 - 154,469,470RGD
Cytogenetic MapXq28UniSTS
HuRefX142,855,539 - 142,856,421UniSTS
ECD01065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,306,569 - 154,307,448UniSTSGRCh37
Build 36X153,959,763 - 153,960,642RGDNCBI36
CeleraX154,465,329 - 154,466,208RGD
Cytogenetic MapXq28UniSTS
HuRefX142,851,286 - 142,852,165UniSTS
ECD02005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,303,520 - 154,304,365UniSTSGRCh37
Build 36X153,956,714 - 153,957,559RGDNCBI36
CeleraX154,462,237 - 154,463,125RGD
Cytogenetic MapXq28UniSTS
ECD04214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,314,936 - 154,315,707UniSTSGRCh37
Build 36X153,968,130 - 153,968,901RGDNCBI36
CeleraX154,473,695 - 154,474,466RGD
Cytogenetic MapXq28UniSTS
HuRefX142,860,655 - 142,861,426UniSTS
ECD05774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,305,080 - 154,305,807UniSTSGRCh37
Build 36X153,958,274 - 153,959,001RGDNCBI36
CeleraX154,463,840 - 154,464,567RGD
Cytogenetic MapXq28UniSTS
HuRefX142,849,797 - 142,850,524UniSTS
ECD07563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,313,940 - 154,314,618UniSTSGRCh37
Build 36X153,967,134 - 153,967,812RGDNCBI36
CeleraX154,472,699 - 154,473,377RGD
Cytogenetic MapXq28UniSTS
HuRefX142,859,659 - 142,860,337UniSTS
ECD08012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,344,547 - 154,345,213UniSTSGRCh37
Build 36X153,997,741 - 153,998,407RGDNCBI36
CeleraX154,503,303 - 154,503,969RGD
Cytogenetic MapXq28UniSTS
HuRefX142,889,782 - 142,890,448UniSTS
ECD09059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,347,277 - 154,347,915UniSTSGRCh37
Build 36X154,000,471 - 154,001,109RGDNCBI36
CeleraX154,506,032 - 154,506,670RGD
Cytogenetic MapXq28UniSTS
HuRefX142,892,511 - 142,893,149UniSTS
ECD09419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,347,922 - 154,348,551UniSTSGRCh37
Build 36X154,001,116 - 154,001,745RGDNCBI36
CeleraX154,506,677 - 154,507,306RGD
Cytogenetic MapXq28UniSTS
HuRefX142,893,156 - 142,893,785UniSTS
ECD09588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,348,669 - 154,349,294UniSTSGRCh37
Build 36X154,001,863 - 154,002,488RGDNCBI36
CeleraX154,507,424 - 154,508,049RGD
Cytogenetic MapXq28UniSTS
HuRefX142,893,903 - 142,894,528UniSTS
ECD09788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,313,306 - 154,313,926UniSTSGRCh37
Build 36X153,966,500 - 153,967,120RGDNCBI36
CeleraX154,472,065 - 154,472,685RGD
Cytogenetic MapXq28UniSTS
HuRefX142,859,025 - 142,859,645UniSTS
ECD11213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,300,274 - 154,300,853UniSTSGRCh37
Build 36X153,953,468 - 153,954,047RGDNCBI36
CeleraX154,458,991 - 154,459,570RGD
Cytogenetic MapXq28UniSTS
ECD11247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,298,603 - 154,299,181UniSTSGRCh37
Build 36X153,951,797 - 153,952,375RGDNCBI36
CeleraX154,457,320 - 154,457,898RGD
Cytogenetic MapXq28UniSTS
HuRefX142,843,905 - 142,844,483UniSTS
ECD12533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,318,459 - 154,319,000UniSTSGRCh37
Build 36X153,971,653 - 153,972,194RGDNCBI36
CeleraX154,477,218 - 154,477,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,864,134 - 142,864,675UniSTS
ECD13023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,317,051 - 154,317,579UniSTSGRCh37
Build 36X153,970,245 - 153,970,773RGDNCBI36
CeleraX154,475,810 - 154,476,338RGD
Cytogenetic MapXq28UniSTS
HuRefX142,862,770 - 142,863,298UniSTS
ECD13301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,308,334 - 154,308,855UniSTSGRCh37
Build 36X153,961,528 - 153,962,049RGDNCBI36
CeleraX154,467,094 - 154,467,614RGD
Cytogenetic MapXq28UniSTS
HuRefX142,854,044 - 142,854,564UniSTS
ECD13341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,298,027 - 154,298,547UniSTSGRCh37
Build 36X153,951,221 - 153,951,741RGDNCBI36
CeleraX154,456,744 - 154,457,264RGD
Cytogenetic MapXq28UniSTS
HuRefX142,843,329 - 142,843,849UniSTS
ECD14725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,343,977 - 154,344,464UniSTSGRCh37
Build 36X153,997,171 - 153,997,658RGDNCBI36
CeleraX154,502,733 - 154,503,220RGD
Cytogenetic MapXq28UniSTS
HuRefX142,889,212 - 142,889,699UniSTS
ECD14814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,343,423 - 154,343,908UniSTSGRCh37
Build 36X153,996,617 - 153,997,102RGDNCBI36
CeleraX154,502,179 - 154,502,664RGD
Cytogenetic MapXq28UniSTS
HuRefX142,888,658 - 142,889,143UniSTS
ECD15347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,301,155 - 154,301,627UniSTSGRCh37
Build 36X153,954,349 - 153,954,821RGDNCBI36
CeleraX154,459,872 - 154,460,344RGD
Cytogenetic MapXq28UniSTS
HuRefX142,846,504 - 142,846,976UniSTS
ECD15348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,301,689 - 154,302,161UniSTSGRCh37
Build 36X153,954,883 - 153,955,355RGDNCBI36
CeleraX154,460,406 - 154,460,878RGD
Cytogenetic MapXq28UniSTS
ECD16104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,321,516 - 154,321,969UniSTSGRCh37
Build 36X153,974,710 - 153,975,163RGDNCBI36
Cytogenetic MapXq28UniSTS
ECD16890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,299,842 - 154,300,263UniSTSGRCh37
Build 36X153,953,036 - 153,953,457RGDNCBI36
CeleraX154,458,559 - 154,458,980RGD
Cytogenetic MapXq28UniSTS
ECD16978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,319,063 - 154,319,480UniSTSGRCh37
Build 36X153,972,257 - 153,972,674RGDNCBI36
CeleraX154,477,822 - 154,478,239RGD
Cytogenetic MapXq28UniSTS
HuRefX142,864,738 - 142,865,155UniSTS
ECD18081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,345,494 - 154,345,868UniSTSGRCh37
Build 36X153,998,688 - 153,999,062RGDNCBI36
CeleraX154,504,250 - 154,504,624RGD
Cytogenetic MapXq28UniSTS
HuRefX142,890,729 - 142,891,103UniSTS
ECD19304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,312,299 - 154,312,625UniSTSGRCh37
Build 36X153,965,493 - 153,965,819RGDNCBI36
CeleraX154,471,058 - 154,471,384RGD
Cytogenetic MapXq28UniSTS
HuRefX142,858,009 - 142,858,344UniSTS
ECD19968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,316,325 - 154,316,627UniSTSGRCh37
Build 36X153,969,519 - 153,969,821RGDNCBI36
CeleraX154,475,084 - 154,475,386RGD
Cytogenetic MapXq28UniSTS
HuRefX142,862,044 - 142,862,346UniSTS
ECD20126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,302,678 - 154,302,974UniSTSGRCh37
Build 36X153,955,872 - 153,956,168RGDNCBI36
CeleraX154,461,395 - 154,461,691RGD
Cytogenetic MapXq28UniSTS
ECD20615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,320,449 - 154,320,727UniSTSGRCh37
Build 36X153,973,643 - 153,973,921RGDNCBI36
CeleraX154,479,208 - 154,479,486RGD
Cytogenetic MapXq28UniSTS
ECD21738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,335,891 - 154,336,132UniSTSGRCh37
Build 36X153,989,085 - 153,989,326RGDNCBI36
CeleraX154,494,648 - 154,494,889RGD
Cytogenetic MapXq28UniSTS
ECD22603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,311,357 - 154,311,571UniSTSGRCh37
Build 36X153,964,551 - 153,964,765RGDNCBI36
CeleraX154,470,116 - 154,470,330RGD
Cytogenetic MapXq28UniSTS
HuRefX142,857,067 - 142,857,281UniSTS
ECD22941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,299,217 - 154,299,420UniSTSGRCh37
Build 36X153,952,411 - 153,952,614RGDNCBI36
CeleraX154,457,934 - 154,458,137RGD
Cytogenetic MapXq28UniSTS
ECD23674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,333,784 - 154,333,965UniSTSGRCh37
Build 36X153,986,978 - 153,987,159RGDNCBI36
CeleraX154,492,542 - 154,492,723RGD
Cytogenetic MapXq28UniSTS
HuRefX142,879,222 - 142,879,403UniSTS
ECD23789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,309,112 - 154,309,288UniSTSGRCh37
Build 36X153,962,306 - 153,962,482RGDNCBI36
CeleraX154,467,871 - 154,468,047RGD
Cytogenetic MapXq28UniSTS
HuRefX142,854,821 - 142,854,997UniSTS
stSG604436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,301,464 - 154,302,917UniSTSGRCh37
Build 36X153,954,658 - 153,956,111RGDNCBI36
CeleraX154,460,181 - 154,461,634RGD
stSG604437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,302,964 - 154,304,074UniSTSGRCh37
Build 36X153,956,158 - 153,957,268RGDNCBI36
CeleraX154,461,681 - 154,462,834RGD
stSG604438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,304,055 - 154,305,454UniSTSGRCh37
Build 36X153,957,249 - 153,958,648RGDNCBI36
CeleraX154,462,815 - 154,464,214RGD
stSG604439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,305,437 - 154,306,833UniSTSGRCh37
Build 36X153,958,631 - 153,960,027RGDNCBI36
CeleraX154,464,197 - 154,465,593RGD
HuRefX142,850,154 - 142,851,550UniSTS
stSG604441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,308,436 - 154,309,699UniSTSGRCh37
Build 36X153,961,630 - 153,962,893RGDNCBI36
CeleraX154,467,196 - 154,468,458RGD
HuRefX142,854,146 - 142,855,409UniSTS
stSG604442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,309,680 - 154,310,691UniSTSGRCh37
Build 36X153,962,874 - 153,963,885RGDNCBI36
CeleraX154,468,439 - 154,469,450RGD
HuRefX142,855,390 - 142,856,401UniSTS
stSG604443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,310,691 - 154,312,153UniSTSGRCh37
Build 36X153,963,885 - 153,965,347RGDNCBI36
CeleraX154,469,450 - 154,470,912RGD
HuRefX142,856,401 - 142,857,863UniSTS
stSG604444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,312,134 - 154,313,450UniSTSGRCh37
Build 36X153,965,328 - 153,966,644RGDNCBI36
CeleraX154,470,893 - 154,472,209RGD
HuRefX142,857,844 - 142,859,169UniSTS
stSG604446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,314,515 - 154,315,552UniSTSGRCh37
Build 36X153,967,709 - 153,968,746RGDNCBI36
CeleraX154,473,274 - 154,474,311RGD
HuRefX142,860,234 - 142,861,271UniSTS
stSG604447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,315,533 - 154,316,536UniSTSGRCh37
Build 36X153,968,727 - 153,969,730RGDNCBI36
CeleraX154,474,292 - 154,475,295RGD
HuRefX142,861,252 - 142,862,255UniSTS
stSG604448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,316,517 - 154,317,579UniSTSGRCh37
Build 36X153,969,711 - 153,970,773RGDNCBI36
CeleraX154,475,276 - 154,476,338RGD
HuRefX142,862,236 - 142,863,298UniSTS
stSG604449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,317,560 - 154,319,000UniSTSGRCh37
Build 36X153,970,754 - 153,972,194RGDNCBI36
CeleraX154,476,319 - 154,477,759RGD
HuRefX142,863,279 - 142,864,675UniSTS
stSG604450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,318,981 - 154,320,253UniSTSGRCh37
Build 36X153,972,175 - 153,973,447RGDNCBI36
CeleraX154,477,740 - 154,479,012RGD
HuRefX142,864,656 - 142,865,928UniSTS
stSG604451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,320,602 - 154,321,637UniSTSGRCh37
Build 36X153,973,796 - 153,974,831RGDNCBI36
CeleraX154,479,361 - 154,480,396RGD
HuRefX142,866,277 - 142,867,312UniSTS
stSG604452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,321,619 - 154,322,714UniSTSGRCh37
Build 36X153,974,813 - 153,975,908RGDNCBI36
CeleraX154,480,378 - 154,481,474RGD
HuRefX142,867,294 - 142,868,373UniSTS
stSG604453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,326,712 - 154,328,209UniSTSGRCh37
Build 36X153,979,906 - 153,981,403RGDNCBI36
CeleraX154,485,472 - 154,486,967RGD
HuRefX142,872,371 - 142,873,756UniSTS
stSG604454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,332,807 - 154,333,838UniSTSGRCh37
Build 36X153,986,001 - 153,987,032RGDNCBI36
CeleraX154,491,565 - 154,492,596RGD
HuRefX142,878,245 - 142,879,276UniSTS
stSG604455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,333,817 - 154,334,266UniSTSGRCh37
Build 36X153,987,011 - 153,987,460RGDNCBI36
CeleraX154,492,575 - 154,493,024RGD
HuRefX142,879,255 - 142,879,704UniSTS
stSG604456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,334,987 - 154,336,132UniSTSGRCh37
Build 36X153,988,181 - 153,989,326RGDNCBI36
CeleraX154,493,745 - 154,494,889RGD
stSG604457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,343,423 - 154,344,582UniSTSGRCh37
Build 36X153,996,617 - 153,997,776RGDNCBI36
CeleraX154,502,179 - 154,503,338RGD
HuRefX142,888,658 - 142,889,817UniSTS
stSG604458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,344,564 - 154,345,825UniSTSGRCh37
Build 36X153,997,758 - 153,999,019RGDNCBI36
CeleraX154,503,320 - 154,504,581RGD
HuRefX142,889,799 - 142,891,060UniSTS
stSG604461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,347,368 - 154,348,518UniSTSGRCh37
Build 36X154,000,562 - 154,001,712RGDNCBI36
CeleraX154,506,123 - 154,507,273RGD
HuRefX142,892,602 - 142,893,752UniSTS
stSG604462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,348,477 - 154,349,476UniSTSGRCh37
Build 36X154,001,671 - 154,002,670RGDNCBI36
CeleraX154,507,232 - 154,508,231RGD
HuRefX142,893,711 - 142,894,710UniSTS
STS-X64643  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH Map5644.61UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4621
Count of miRNA genes:1009
Interacting mature miRNAs:1187
Transcripts:ENST00000330045, ENST00000340647, ENST00000369459, ENST00000369462, ENST00000399026, ENST00000399042, ENST00000411985, ENST00000453705
Prediction methods:Microtar, 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 1599 973 1003 268 945 128 2494 850 1642 281 800 1111 153 491 1620 4 2
Low 840 1971 723 356 966 337 1862 1340 2092 138 660 502 22 1 713 1168 2
Below cutoff 47 40 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK298886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY438030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP304352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU902387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX293995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX470111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X64643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330045   ⟹   ENSP00000328641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,431 - 155,122,727 (+)Ensembl
RefSeq Acc Id: ENST00000340647   ⟹   ENSP00000344103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,420 - 155,121,318 (+)Ensembl
RefSeq Acc Id: ENST00000369459   ⟹   ENSP00000358471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,499 - 155,123,072 (+)Ensembl
RefSeq Acc Id: ENST00000369462   ⟹   ENSP00000358474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,503 - 155,123,074 (+)Ensembl
RefSeq Acc Id: ENST00000399026   ⟹   ENSP00000381988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,073,411 - 155,078,930 (+)Ensembl
RefSeq Acc Id: ENST00000399042   ⟹   ENSP00000381998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,528 - 155,120,150 (+)Ensembl
RefSeq Acc Id: ENST00000411985   ⟹   ENSP00000413170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,518 - 155,116,183 (+)Ensembl
RefSeq Acc Id: ENST00000453705   ⟹   ENSP00000415152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,532 - 155,123,036 (+)Ensembl
RefSeq Acc Id: ENST00000620502   ⟹   ENSP00000482836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,528 - 155,120,150 (+)Ensembl
RefSeq Acc Id: ENST00000630295   ⟹   ENSP00000486287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,071,528 - 155,120,150 (+)Ensembl
RefSeq Acc Id: NM_001018055   ⟹   NP_001018065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,508 - 155,123,077 (+)NCBI
GRCh37X154,299,695 - 154,351,349 (+)ENTREZGENE
Build 36X153,952,904 - 154,004,543 (+)NCBI Archive
HuRefX142,845,949 - 142,896,583 (+)ENTREZGENE
CHM1_1X154,211,322 - 154,263,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242640   ⟹   NP_001229569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,508 - 155,123,077 (+)NCBI
GRCh37X154,299,695 - 154,351,349 (+)ENTREZGENE
HuRefX142,845,949 - 142,896,583 (+)ENTREZGENE
CHM1_1X154,211,322 - 154,263,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024332   ⟹   NP_077308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,508 - 155,123,077 (+)NCBI
GRCh37X154,299,695 - 154,351,349 (+)ENTREZGENE
Build 36X153,952,904 - 154,004,543 (+)NCBI Archive
HuRefX142,845,949 - 142,896,583 (+)ENTREZGENE
CHM1_1X154,211,322 - 154,263,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274751   ⟹   XP_005274808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,410 - 155,126,766 (+)NCBI
GRCh37X154,299,695 - 154,351,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029838   ⟹   XP_016885327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,403 - 155,120,169 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001229569   ⟸   NM_001242640
- Peptide Label: isoform 3
- UniProtKB: P46736 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_077308   ⟸   NM_024332
- Peptide Label: isoform 1
- UniProtKB: P46736 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001018065   ⟸   NM_001018055
- Peptide Label: isoform 2
- UniProtKB: P46736 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274808   ⟸   XM_005274751
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885327   ⟸   XM_017029838
- Peptide Label: isoform X1
- UniProtKB: P46736 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000482836   ⟸   ENST00000620502
RefSeq Acc Id: ENSP00000381988   ⟸   ENST00000399026
RefSeq Acc Id: ENSP00000381998   ⟸   ENST00000399042
RefSeq Acc Id: ENSP00000413170   ⟸   ENST00000411985
RefSeq Acc Id: ENSP00000415152   ⟸   ENST00000453705
RefSeq Acc Id: ENSP00000344103   ⟸   ENST00000340647
RefSeq Acc Id: ENSP00000486287   ⟸   ENST00000630295
RefSeq Acc Id: ENSP00000358474   ⟸   ENST00000369462
RefSeq Acc Id: ENSP00000358471   ⟸   ENST00000369459
RefSeq Acc Id: ENSP00000328641   ⟸   ENST00000330045
Protein Domains
JAB_MPN   MPN

Promoters
RGD ID:6808771
Promoter ID:HG_KWN:68728
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000330045,   ENST00000340647,   ENST00000369459,   ENST00000399041,   ENST00000399042,   NM_024332,   OTTHUMT00000037822,   OTTHUMT00000058777,   OTTHUMT00000316163,   OTTHUMT00000316165
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,951,536 - 153,953,102 (+)MPROMDB
RGD ID:13628696
Promoter ID:EPDNEW_H29586
Type:initiation region
Name:BRCC3_1
Description:BRCA1/BRCA2-containing complex subunit 3
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
GRCh38X155,071,510 - 155,071,570EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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: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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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:10679-156013167)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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:154931352-155331063)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050362]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050362]|See cases [RCV000050362] ChrX:154931352..155331063 [GRCh38]
ChrX:154159627..154560375 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154897608-155335682)x1 copy number loss See cases [RCV000051761] ChrX:154897608..155335682 [GRCh38]
ChrX:153779077..154218185 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154984506-155098444)x0 copy number loss See cases [RCV000051763] ChrX:154984506..155098444 [GRCh38]
ChrX:153865975..153979913 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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-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-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 Xq28(chrX:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155007151-155491717)x3 copy number gain See cases [RCV000054324] ChrX:155007151..155491717 [GRCh38]
ChrX:154418093..154721378 [GRCh37]
ChrX:153888620..154374572 [NCBI36]
ChrX:Xq28
uncertain significance
NM_001018055.2(BRCC3):c.518_527delTCCAATCCAT (p.Phe173Tyrfs) deletion Malignant melanoma [RCV000073135] ChrX:155090809..155090818 [GRCh38]
ChrX:154319084..154319093 [GRCh37]
ChrX:153972278..153972287 [NCBI36]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
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
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154931352-155331063)x1 copy number loss See cases [RCV000133832] ChrX:154931352..155331063 [GRCh38]
ChrX:153812821..154213569 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
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 Xq28(chrX:154931352-155331063)x3 copy number gain See cases [RCV000050362] ChrX:154931352..155331063 [GRCh38]
ChrX:153812821..154213569 [NCBI36]
ChrX:Xq28
uncertain significance
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: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: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-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 Xq28(chrX:154984506-155098444)x1 copy number loss See cases [RCV000051762] ChrX:154984506..155098444 [GRCh38]
ChrX:153865975..153979913 [NCBI36]
ChrX:Xq28
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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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 Xp22.33-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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:154836929-155123329)x3 copy number gain See cases [RCV000135629] ChrX:154836929..155123329 [GRCh38]
ChrX:153718398..154004798 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154904963-155331063)x1 copy number loss See cases [RCV000137010] ChrX:154904963..155331063 [GRCh38]
ChrX:153786432..154213569 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154890368-155348538)x2 copy number gain See cases [RCV000137816] ChrX:154890368..155348538 [GRCh38]
ChrX:153771837..154231046 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:155081733-155331062)x3 copy number gain See cases [RCV000139260] ChrX:155081733..155331062 [GRCh38]
ChrX:154418093..154560374 [GRCh37]
ChrX:153963202..154213568 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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 Xq28(chrX:154890313-155331062)x1 copy number loss See cases [RCV000139766] ChrX:154890313..155331062 [GRCh38]
ChrX:153771782..154213568 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq28(chrX:154883744-155336409)x2 copy number gain See cases [RCV000141857] ChrX:154883744..155336409 [GRCh38]
ChrX:154112019..154565718 [GRCh37]
ChrX:153765213..154218912 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq28(chrX:154892324-155339449)x1 copy number loss See cases [RCV000142097] ChrX:154892324..155339449 [GRCh38]
ChrX:154120599..154568758 [GRCh37]
ChrX:153773793..154221952 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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-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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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 Xq28(chrX:154124111-154564398) copy number gain See cases [RCV000169646] ChrX:154124111..154564398 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154124111-154564398) copy number loss See cases [RCV000169647] ChrX:154124111..154564398 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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
NM_024332.3(BRCC3):c.403+3165C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208901] ChrX:155081868 [GRCh38]
ChrX:154310143 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.549-323A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208939] ChrX:155098992 [GRCh38]
ChrX:154327267 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.123+84T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209266] ChrX:155071734 [GRCh38]
ChrX:154300009 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.493-404C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209191] ChrX:155090380 [GRCh38]
ChrX:154318655 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.403+241A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209556] ChrX:155078944 [GRCh38]
ChrX:154307219 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.403+3171G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209349] ChrX:155081874 [GRCh38]
ChrX:154310149 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.196-1496T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209521] ChrX:155075674 [GRCh38]
ChrX:154303949 [GRCh37]
ChrX:Xq28
likely benign
NM_024332.3(BRCC3):c.403+205A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209682] ChrX:155078908 [GRCh38]
ChrX:154307183 [GRCh37]
ChrX:Xq28
likely benign
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 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154115785-154528181)x1 copy number loss See cases [RCV000239872] ChrX:154115785..154528181 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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
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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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-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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
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 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154124170-154528181)x1 copy number loss X-linked intellectual disability syndrome [RCV000509496] ChrX:154124170..154528181 [GRCh37]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:154110363-154565718)x3 copy number gain See cases [RCV000510427] ChrX:154110363..154565718 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:154110363-154568758)x3 copy number gain See cases [RCV000511866] ChrX:154110363..154568758 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154250433-154317840)x0 copy number loss See cases [RCV000511063] ChrX:154250433..154317840 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:154117578-154553189)x2 copy number gain See cases [RCV000510828] ChrX:154117578..154553189 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154565718)x1 copy number loss See cases [RCV000512474] ChrX:154120620..154565718 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele deletion not provided [RCV000677993] ChrX:154115785..154528181 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:154110363-154417230)x2 copy number gain not provided [RCV000684417] ChrX:154110363..154417230 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154568774)x2 copy number gain not provided [RCV000684418] ChrX:154120620..154568774 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154120640-154565718)x1 copy number loss not provided [RCV000684419] ChrX:154120640..154565718 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154296581-154443920)x2 copy number gain not provided [RCV000684420] ChrX:154296581..154443920 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153904473-155090513)x0 copy number loss not provided [RCV000753943] ChrX:153904473..155090513 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154758477)x3 copy number gain not provided [RCV000753944] ChrX:154038887..154758477 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154070167-154927199)x1 copy number loss not provided [RCV000753946] ChrX:154070167..154927199 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154038887-154921557)x0 copy number loss not provided [RCV000753945] ChrX:154038887..154921557 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154305616-154440581)x2 copy number gain not provided [RCV000753947] ChrX:154305616..154440581 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
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
Single allele duplication Autistic disorder of childhood onset [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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154252722-154343784)x0 copy number loss not provided [RCV001007371] ChrX:154252722..154343784 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
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_024332.3(BRCC3):c.756-9A>G single nucleotide variant not provided [RCV000881715] ChrX:155116702 [GRCh38]
ChrX:154344977 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154305031-154307464) copy number loss Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism [RCV000767653] ChrX:154305031..154307464 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:154306330-154680053)x2 copy number gain not provided [RCV000848222] ChrX:154306330..154680053 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154301825-154443882)x2 copy number gain not provided [RCV000848244] ChrX:154301825..154443882 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:154238385-154339708)x2 copy number gain not provided [RCV000847882] ChrX:154238385..154339708 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:154301825-154443920)x2 copy number gain not provided [RCV000849590] ChrX:154301825..154443920 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:154051891-155236747)x3 copy number gain See cases [RCV001194554] ChrX:154051891..155236747 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq28(chrX:154117563-154633634)x3 copy number gain not provided [RCV000847765] ChrX:154117563..154633634 [GRCh37]
ChrX:Xq28
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
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:154117563-154617602)x2 copy number gain not provided [RCV000845701] ChrX:154117563..154617602 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154112019-154625699)x2 copy number gain not provided [RCV001007369] ChrX:154112019..154625699 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154617577)x3 copy number gain not provided [RCV001007370] ChrX:154120620..154617577 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154130223-154563104)x3 copy number gain See cases [RCV001194537] ChrX:154130223..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154290230-154441876)x3 copy number gain not provided [RCV001258419] ChrX:154290230..154441876 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154078238-154563469)x3 copy number gain not provided [RCV001260057] ChrX:154078238..154563469 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24185 AgrOrtholog
COSMIC BRCC3 COSMIC
Ensembl Genes ENSG00000185515 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000328641 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000344103 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358471 UniProtKB/Swiss-Prot
  ENSP00000358474 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381988 UniProtKB/TrEMBL
  ENSP00000381998 UniProtKB/TrEMBL
  ENSP00000413170 UniProtKB/TrEMBL
  ENSP00000415152 UniProtKB/TrEMBL
  ENSP00000482836 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000486287 UniProtKB/TrEMBL
Ensembl Transcript ENST00000330045 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000340647 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369459 UniProtKB/Swiss-Prot
  ENST00000369462 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399026 UniProtKB/TrEMBL
  ENST00000399042 UniProtKB/TrEMBL
  ENST00000411985 UniProtKB/TrEMBL
  ENST00000453705 UniProtKB/TrEMBL
  ENST00000620502 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000630295 UniProtKB/TrEMBL
GTEx ENSG00000185515 GTEx
HGNC ID HGNC:24185 ENTREZGENE
Human Proteome Map BRCC3 Human Proteome Map
InterPro BRCC36_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JAMM/MPN+_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MPN_BRCC36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79184 UniProtKB/Swiss-Prot
NCBI Gene 79184 ENTREZGENE
OMIM 300617 OMIM
Pfam BRCC36_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134922847 PharmGKB
PROSITE MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART JAB_MPN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZR3_HUMAN UniProtKB/TrEMBL
  A0A0A0MS96_HUMAN UniProtKB/TrEMBL
  A0A0D9SF50_HUMAN UniProtKB/TrEMBL
  BRCC3_HUMAN UniProtKB/Swiss-Prot
  D3DWY6_HUMAN UniProtKB/TrEMBL
  H7C413_HUMAN UniProtKB/TrEMBL
  H9KVA9_HUMAN UniProtKB/TrEMBL
  P46736 ENTREZGENE
  X6RJS7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6QRF8 UniProtKB/Swiss-Prot
  A6QRF9 UniProtKB/Swiss-Prot
  A8MUX5 UniProtKB/Swiss-Prot
  A8MWH0 UniProtKB/Swiss-Prot
  A9Z1Y0 UniProtKB/Swiss-Prot
  A9Z1Y5 UniProtKB/Swiss-Prot
  B1B062 UniProtKB/Swiss-Prot
  B4DQN7 UniProtKB/Swiss-Prot
  Q16107 UniProtKB/Swiss-Prot
  Q53YX5 UniProtKB/Swiss-Prot
  Q9BTZ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 BRCC3  BRCA1/BRCA2-containing complex subunit 3    BRCA1/BRCA2-containing complex, subunit 3  Symbol and/or name change 5135510 APPROVED