DEFB4A (defensin beta 4A) - Rat Genome Database

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Gene: DEFB4A (defensin beta 4A) Homo sapiens
Analyze
Symbol: DEFB4A (Ensembl: DEFB4B)
Name: defensin beta 4A (Ensembl:defensin beta 4B)
RGD ID: 1348794
HGNC Page HGNC:2767
Description: Enables CCR6 chemokine receptor binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in chemotaxis and defense response to other organism. Acts upstream of or within defense response to bacterium. Located in extracellular space. Biomarker of common cold; cystic fibrosis; and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BD-2; beta defensin 2; beta defensin-2; beta-defensin 2; beta-defensin 4A; DEFB-2; DEFB102; DEFB2; DEFB4; DEFB4B; defensin, beta 2; defensin, beta 4; defensin, beta 4A; HBD-2; SAP1; skin-antimicrobial peptide 1
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,894,677 - 7,896,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,894,677 - 7,896,716 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,414,855 - 7,416,863 (-)EnsemblGRCh38hg38GRCh38
GRCh3787,752,199 - 7,754,238 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,789,609 - 7,791,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 3487,789,608 - 7,791,647NCBI
Cytogenetic Map8p23.1NCBI
CHM1_187,817,857 - 7,819,910 (+)NCBICHM1_1
T2T-CHM13v2.0812,040,687 - 12,042,691 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. [Beta-defensins in plasma and bronchoalveolar lavage fluid in patients with non-tuberculous mycobacterium infection]. Ashitani J, etal., Nihon Kokyuki Gakkai Zasshi. 2001 Jan;39(1):12-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. [A study of human beta-defensin-1 and human beta-defensin-2 in airway mucosal defense]. Hiratsuka T, etal., Kansenshogaku Zasshi. 1999 Feb;73(2):156-62.
4. Elevated BALF concentrations of alpha- and beta-defensins in patients with pulmonary alveolar proteinosis. Mukae H, etal., Respir Med. 2007 Apr;101(4):715-21. Epub 2006 Sep 26.
5. Human rhinovirus infection induces airway epithelial cell production of human beta-defensin 2 both in vitro and in vivo. Proud D, etal., J Immunol. 2004 Apr 1;172(7):4637-45.
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Increased levels of antimicrobial peptides in tracheal aspirates of newborn infants during infection. Schaller-Bals S, etal., Am J Respir Crit Care Med. 2002 Apr 1;165(7):992-5.
8. Production of beta-defensins by human airway epithelia. Singh PK, etal., Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14961-6.
9. [Effect of recombinant beta-defensin-2 peptide on apoptosis of pulmonary tissue in rats with sepsis]. Xu XY, etal., Zhejiang Da Xue Xue Bao Yi Xue Ban. 2006 Nov;35(6):600-4.
Additional References at PubMed
PMID:9202117   PMID:9727055   PMID:9825219   PMID:9831658   PMID:10338476   PMID:10404637   PMID:10456937   PMID:10521347   PMID:10603376   PMID:10837369   PMID:10906336   PMID:11005092  
PMID:11442756   PMID:11453504   PMID:11714836   PMID:11714914   PMID:11728477   PMID:11741980   PMID:11751976   PMID:11934878   PMID:12010514   PMID:12063167   PMID:12174890   PMID:12183584  
PMID:12381917   PMID:12389997   PMID:12395153   PMID:12411706   PMID:12421237   PMID:12477932   PMID:12488564   PMID:12489997   PMID:12519391   PMID:12522054   PMID:12537649   PMID:12612195  
PMID:12710950   PMID:12821122   PMID:12832046   PMID:12892899   PMID:12958190   PMID:14688115   PMID:14703118   PMID:14714554   PMID:14760942   PMID:14963722   PMID:14981906   PMID:15004048  
PMID:15013761   PMID:15161058   PMID:15240151   PMID:15382127   PMID:15385474   PMID:15489334   PMID:15502724   PMID:15529375   PMID:15547668   PMID:15625724   PMID:15661923   PMID:15727258  
PMID:15820309   PMID:15829297   PMID:15985221   PMID:16034119   PMID:16097044   PMID:16201065   PMID:16201312   PMID:16219107   PMID:16242370   PMID:16269090   PMID:16319062   PMID:16341674  
PMID:16417227   PMID:16433908   PMID:16741514   PMID:16762333   PMID:16909382   PMID:17000004   PMID:17254301   PMID:17283097   PMID:17298411   PMID:17392834   PMID:17403538   PMID:17415576  
PMID:17760820   PMID:17922409   PMID:17928537   PMID:17986621   PMID:18059266   PMID:18362142   PMID:18371140   PMID:18449938   PMID:18452706   PMID:18556347   PMID:18566581   PMID:18578886  
PMID:18601854   PMID:18603327   PMID:18627502   PMID:18635180   PMID:18641349   PMID:19056110   PMID:19063971   PMID:19080508   PMID:19109182   PMID:19121950   PMID:19141978   PMID:19172136  
PMID:19194307   PMID:19212650   PMID:19212651   PMID:19233848   PMID:19249126   PMID:19266104   PMID:19412702   PMID:19554343   PMID:19617917   PMID:19702947   PMID:19735472   PMID:19760202  
PMID:19809410   PMID:19819163   PMID:19948723   PMID:20006664   PMID:20023216   PMID:20032992   PMID:20068036   PMID:20095493   PMID:20128731   PMID:20154223   PMID:20229195   PMID:20231411  
PMID:20378733   PMID:20483750   PMID:20618959   PMID:20629326   PMID:20634980   PMID:20647256   PMID:20650771   PMID:20653851   PMID:20720450   PMID:20724351   PMID:20819126   PMID:20848773  
PMID:20980773   PMID:21062008   PMID:21105373   PMID:21115716   PMID:21122132   PMID:21132301   PMID:21178014   PMID:21248725   PMID:21270758   PMID:21280982   PMID:21328884   PMID:21383053  
PMID:21385545   PMID:21394999   PMID:21520074   PMID:21529380   PMID:21631237   PMID:21834467   PMID:21843332   PMID:21873635   PMID:21913811   PMID:21956461   PMID:22050386   PMID:22093109  
PMID:22137028   PMID:22209221   PMID:22296408   PMID:22302058   PMID:22384213   PMID:22386945   PMID:22391815   PMID:22438960   PMID:22444247   PMID:22450687   PMID:22500651   PMID:22537555  
PMID:22564496   PMID:22645023   PMID:22739795   PMID:22742591   PMID:22761444   PMID:22837109   PMID:22860513   PMID:22902431   PMID:23194186   PMID:23198942   PMID:23398087   PMID:23466823  
PMID:23499548   PMID:23519334   PMID:23548528   PMID:23562109   PMID:23614747   PMID:23625220   PMID:23647067   PMID:23698749   PMID:23734009   PMID:23774076   PMID:23776172   PMID:23819923  
PMID:23925144   PMID:24019264   PMID:24077667   PMID:24120511   PMID:24191013   PMID:24307989   PMID:24368180   PMID:24386991   PMID:24564045   PMID:24577404   PMID:24691279   PMID:24747281  
PMID:24831548   PMID:24894820   PMID:24903937   PMID:24927104   PMID:25057107   PMID:25178103   PMID:25226614   PMID:25263616   PMID:25381795   PMID:25417183   PMID:25503380   PMID:25517613  
PMID:25944908   PMID:26025437   PMID:26038828   PMID:26073571   PMID:26244639   PMID:26350435   PMID:26434201   PMID:26448160   PMID:26536271   PMID:26539799   PMID:26773532   PMID:26874342  
PMID:26930710   PMID:26944069   PMID:26950997   PMID:26960373   PMID:27082275   PMID:27117051   PMID:27207796   PMID:27377709   PMID:27502297   PMID:27517152   PMID:27526049   PMID:27618158  
PMID:27727278   PMID:28132490   PMID:28270138   PMID:28487283   PMID:28514442   PMID:28622393   PMID:28887442   PMID:29367706   PMID:29487594   PMID:29623515   PMID:29905453   PMID:30003595  
PMID:30050988   PMID:30328471   PMID:30484159   PMID:30529003   PMID:30899005   PMID:30974892   PMID:31126693   PMID:31682009   PMID:31875602   PMID:32058800   PMID:32551953   PMID:33174018  
PMID:33175712   PMID:33717182   PMID:33905581   PMID:33961781   PMID:34139696   PMID:34362937   PMID:34547411   PMID:34831214   PMID:34855866   PMID:36310877   PMID:36542690   PMID:37253703  
PMID:38070628   PMID:38189674   PMID:38246944   PMID:38965312   PMID:39324351  


Genomics

Comparative Map Data
DEFB4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,894,677 - 7,896,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,894,677 - 7,896,716 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,414,855 - 7,416,863 (-)EnsemblGRCh38hg38GRCh38
GRCh3787,752,199 - 7,754,238 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,789,609 - 7,791,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 3487,789,608 - 7,791,647NCBI
Cytogenetic Map8p23.1NCBI
CHM1_187,817,857 - 7,819,910 (+)NCBICHM1_1
T2T-CHM13v2.0812,040,687 - 12,042,691 (+)NCBIT2T-CHM13v2.0
Defb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39819,343,377 - 19,345,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl819,343,376 - 19,345,307 (+)EnsemblGRCm39 Ensembl
GRCm38819,293,361 - 19,295,339 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl819,293,360 - 19,295,291 (+)EnsemblGRCm38mm10GRCm38
MGSCv37819,293,361 - 19,295,339 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36819,293,341 - 19,295,316 (+)NCBIMGSCv36mm8
Celera819,417,528 - 19,419,519 (+)NCBICelera
Cytogenetic Map8A1.3NCBI
cM Map810.35NCBI
Defb5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,315,424 - 77,317,828 (-)NCBIGRCr8
mRatBN7.21670,612,985 - 70,615,389 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1670,613,146 - 70,615,467 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1675,890,029 - 75,892,189 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01679,345,916 - 79,367,209 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01674,595,354 - 74,616,645 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01675,597,323 - 75,599,483 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,589,530 - 75,599,534 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01675,190,208 - 75,200,200 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41675,403,111 - 75,405,271 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1668,475,476 - 68,477,637 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
DEFB4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11658,953,916 - 58,956,407 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1658,953,916 - 58,956,407 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1654,479,009 - 54,481,500 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01657,091,988 - 57,094,475 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1657,091,965 - 57,094,519 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11659,114,878 - 59,117,361 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01655,100,644 - 55,103,128 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01655,475,309 - 55,477,794 (+)NCBIUU_Cfam_GSD_1.0
DEFB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1538,076,057 - 38,077,899 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11538,076,057 - 38,077,899 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap15q14-q15.1NCBI

Variants

.
Variants in DEFB4A
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1 copy number loss See cases [RCV000133910] Chr8:7195664..7948707 [GRCh38]
Chr8:7053186..7806229 [GRCh37]
Chr8:7040596..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3 copy number gain Single ventricular heart [RCV000050329]|Intellectual functioning disability [RCV000050330]|See cases [RCV000050329] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000050276] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000050282] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000050484] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000050492] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 copy number loss See cases [RCV000050650] Chr8:7022782..8273167 [GRCh38]
Chr8:6880304..8130689 [GRCh37]
Chr8:6867714..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000050565] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 copy number loss See cases [RCV000050573] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3 copy number gain See cases [RCV000050726] Chr8:7411297..8273167 [GRCh38]
Chr8:7268819..8130689 [GRCh37]
Chr8:7256229..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411297-8273167)x1 copy number loss See cases [RCV000050727] Chr8:7411297..8273167 [GRCh38]
Chr8:7268819..8130689 [GRCh37]
Chr8:7256229..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3 copy number gain See cases [RCV000051192] Chr8:7411297..12182465 [GRCh38]
Chr8:7268819..12039974 [GRCh37]
Chr8:7256229..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 copy number loss See cases [RCV000053166] Chr8:7411097..12610175 [GRCh38]
Chr8:7268619..12467684 [GRCh37]
Chr8:7256029..12512055 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1 copy number loss See cases [RCV000053167] Chr8:7411297..11961807 [GRCh38]
Chr8:7268819..11819316 [GRCh37]
Chr8:7256229..11856725 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168] Chr8:7411297..12546553 [GRCh38]
Chr8:7268819..12404062 [GRCh37]
Chr8:7256229..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-7948707)x3 copy number gain See cases [RCV000133893] Chr8:7311968..7948707 [GRCh38]
Chr8:7169490..7806229 [GRCh37]
Chr8:7156900..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7948707)x1 copy number loss See cases [RCV000133894] Chr8:7311968..7948707 [GRCh38]
Chr8:7169490..7806229 [GRCh37]
Chr8:7156900..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 copy number gain See cases [RCV000133878] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x1 copy number loss See cases [RCV000133879] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7895064)x3 copy number gain See cases [RCV000133884] Chr8:7381969..7895064 [GRCh38]
Chr8:7239491..7752586 [GRCh37]
Chr8:7226901..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7895064)x1 copy number loss See cases [RCV000133885] Chr8:7381969..7895064 [GRCh38]
Chr8:7239491..7752586 [GRCh37]
Chr8:7226901..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8429785)x1 copy number loss See cases [RCV000133805] Chr8:7411297..8429785 [GRCh38]
Chr8:7268819..8287295 [GRCh37]
Chr8:7256229..8324705 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3 copy number gain See cases [RCV000050329] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:7359040..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3 copy number gain See cases [RCV000133631] Chr8:7022782..8222398 [GRCh38]
Chr8:6880304..8079920 [GRCh37]
Chr8:6867714..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8273167)x1 copy number loss See cases [RCV000133700] Chr8:7195664..8273167 [GRCh38]
Chr8:7053186..8130689 [GRCh37]
Chr8:7040596..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1 copy number loss See cases [RCV000133718] Chr8:7022782..7895064 [GRCh38]
Chr8:6880304..7752586 [GRCh37]
Chr8:6867714..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8237251)x1 copy number loss See cases [RCV000133752] Chr8:7311968..8237251 [GRCh38]
Chr8:7169490..8094773 [GRCh37]
Chr8:7156900..8132183 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1 copy number loss See cases [RCV000133754] Chr8:7187864..8222390 [GRCh38]
Chr8:7045386..8079912 [GRCh37]
Chr8:7032796..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x1 copy number loss See cases [RCV000133680] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:7359040..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x3 copy number gain See cases [RCV000133660] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3 copy number gain See cases [RCV000134177] Chr8:7834379..12182465 [GRCh38]
Chr8:7691901..12039974 [GRCh37]
Chr8:7729311..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7512656-8222390)x1 copy number loss See cases [RCV000134739] Chr8:7512656..8222390 [GRCh38]
Chr8:7370178..8079912 [GRCh37]
Chr8:7357588..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7512656-8222390)x3 copy number gain See cases [RCV000134740] Chr8:7512656..8222390 [GRCh38]
Chr8:7370178..8079912 [GRCh37]
Chr8:7357588..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x3 copy number gain See cases [RCV000133940] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 copy number loss See cases [RCV000133941] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8023794)x1 copy number loss See cases [RCV000134109] Chr8:7311988..8023794 [GRCh38]
Chr8:7169510..7881316 [GRCh37]
Chr8:7156920..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7330224-8023794)x3 copy number gain See cases [RCV000134043] Chr8:7330224..8023794 [GRCh38]
Chr8:7187746..7881316 [GRCh37]
Chr8:7175156..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7722294-7895074)x3 copy number gain See cases [RCV000134049] Chr8:7722294..7895074 [GRCh38]
Chr8:7579816..7752596 [GRCh37]
Chr8:7617226..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7722294-7895074)x1 copy number loss See cases [RCV000134050] Chr8:7722294..7895074 [GRCh38]
Chr8:7579816..7752596 [GRCh37]
Chr8:7617226..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-7895064)x1 copy number loss See cases [RCV000134008] Chr8:7514108..7895064 [GRCh38]
Chr8:7371630..7752586 [GRCh37]
Chr8:7359040..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7546100-8222398)x1 copy number loss See cases [RCV000134009] Chr8:7546100..8222398 [GRCh38]
Chr8:7403622..8079920 [GRCh37]
Chr8:7391032..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x3 copy number gain See cases [RCV000134011] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1 copy number loss See cases [RCV000134012] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8023794)x1 copy number loss See cases [RCV000134015] Chr8:7253289..8023794 [GRCh38]
Chr8:7110811..7881316 [GRCh37]
Chr8:7098221..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7895074)x3 copy number gain See cases [RCV000134129] Chr8:7381949..7895074 [GRCh38]
Chr8:7239471..7752596 [GRCh37]
Chr8:7226881..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8222390)x1 copy number loss See cases [RCV000134024] Chr8:7217074..8222390 [GRCh38]
Chr8:7074596..8079912 [GRCh37]
Chr8:7062006..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8222390)x1 copy number loss See cases [RCV000134077] Chr8:7253289..8222390 [GRCh38]
Chr8:7110811..8079912 [GRCh37]
Chr8:7098221..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8034272)x1 copy number loss See cases [RCV000134087] Chr8:7253289..8034272 [GRCh38]
Chr8:7110811..7891794 [GRCh37]
Chr8:7098221..7929204 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8273167)x1 copy number loss See cases [RCV000133965] Chr8:7381969..8273167 [GRCh38]
Chr8:7239491..8130689 [GRCh37]
Chr8:7226901..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7895064)x3 copy number gain See cases [RCV000133974] Chr8:7311968..7895064 [GRCh38]
Chr8:7169490..7752586 [GRCh37]
Chr8:7156900..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1 copy number loss See cases [RCV000134098] Chr8:7217074..8070470 [GRCh38]
Chr8:7074596..7927992 [GRCh37]
Chr8:7062006..7965402 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7895064)x1 copy number loss See cases [RCV000133975] Chr8:7311968..7895064 [GRCh38]
Chr8:7169490..7752586 [GRCh37]
Chr8:7156900..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3 copy number gain See cases [RCV000133976] Chr8:7381969..8222398 [GRCh38]
Chr8:7239491..8079920 [GRCh37]
Chr8:7226901..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222398)x1 copy number loss See cases [RCV000133977] Chr8:7381969..8222398 [GRCh38]
Chr8:7239491..8079920 [GRCh37]
Chr8:7226901..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8222390)x1 copy number loss See cases [RCV000134102] Chr8:7256134..8222390 [GRCh38]
Chr8:7113656..8079912 [GRCh37]
Chr8:7101066..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7546100-7948707)x1 copy number loss See cases [RCV000133924] Chr8:7546100..7948707 [GRCh38]
Chr8:7403622..7806229 [GRCh37]
Chr8:7391032..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381949-7948705)x3 copy number gain See cases [RCV000134808] Chr8:7381949..7948705 [GRCh38]
Chr8:7239471..7806227 [GRCh37]
Chr8:7226881..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-7895205)x1 copy number loss See cases [RCV000135465] Chr8:7411097..7895205 [GRCh38]
Chr8:7268619..7752727 [GRCh37]
Chr8:7256029..7790137 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7929893)x3 copy number gain See cases [RCV000136210] Chr8:7311998..7929893 [GRCh38]
Chr8:7169520..7787415 [GRCh37]
Chr8:7156930..7824825 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381998-8222368)x1 copy number loss See cases [RCV000136309] Chr8:7381998..8222368 [GRCh38]
Chr8:7239520..8079890 [GRCh37]
Chr8:7226930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-8222390)x3 copy number gain See cases [RCV000136108] Chr8:7411303..8222390 [GRCh38]
Chr8:7268825..8079912 [GRCh37]
Chr8:7256235..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 copy number gain See cases [RCV000136522] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 copy number loss See cases [RCV000136523] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311998-8222368)x3 copy number gain See cases [RCV000136432] Chr8:7311998..8222368 [GRCh38]
Chr8:7169520..8079890 [GRCh37]
Chr8:7156930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-8222368)x1 copy number loss See cases [RCV000136433] Chr8:7311998..8222368 [GRCh38]
Chr8:7169520..8079890 [GRCh37]
Chr8:7156930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7921714)x3 copy number gain See cases [RCV000136468] Chr8:7311998..7921714 [GRCh38]
Chr8:7169520..7779236 [GRCh37]
Chr8:7156930..7816646 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-8222369)x1 copy number loss See cases [RCV000136180] Chr8:7311998..8222369 [GRCh38]
Chr8:7169520..8079891 [GRCh37]
Chr8:7156930..8117301 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411303-8364508)x3 copy number gain See cases [RCV000136002] Chr8:7411303..8364508 [GRCh38]
Chr8:7268825..8222024 [GRCh37]
Chr8:7256235..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7512656-7948705)x1 copy number loss See cases [RCV000136072] Chr8:7512656..7948705 [GRCh38]
Chr8:7370178..7806227 [GRCh37]
Chr8:7357588..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8273109)x1 copy number loss See cases [RCV000136011] Chr8:7195674..8273109 [GRCh38]
Chr8:7053196..8130631 [GRCh37]
Chr8:7040606..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256139-8222398)x1 copy number loss See cases [RCV000137187] Chr8:7256139..8222398 [GRCh38]
Chr8:7113661..8079920 [GRCh37]
Chr8:7101071..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381949-8364508)x3 copy number gain See cases [RCV000138649] Chr8:7381949..8364508 [GRCh38]
Chr8:7239471..8222024 [GRCh37]
Chr8:7226881..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381948-7948701)x1 copy number loss See cases [RCV000138738] Chr8:7381948..7948701 [GRCh38]
Chr8:7239470..7806223 [GRCh37]
Chr8:7226880..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-8273109)x3 copy number gain See cases [RCV000138794] Chr8:7411303..8273109 [GRCh38]
Chr8:7268825..8130631 [GRCh37]
Chr8:7256235..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x1 copy number loss See cases [RCV000138764] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x3 copy number gain See cases [RCV000138765] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 copy number gain See cases [RCV000138529] Chr8:7103661..12299882 [GRCh38]
Chr8:6961183..12157391 [GRCh37]
Chr8:6948593..12201760 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.1(chr8:7300731-7981415)x3 copy number gain See cases [RCV000139259] Chr8:7300731..7981415 [GRCh38]
Chr8:7158253..7838937 [GRCh37]
Chr8:7145663..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7142958-7895074)x3 copy number gain See cases [RCV000139295] Chr8:7142958..7895074 [GRCh38]
Chr8:7000480..7752596 [GRCh37]
Chr8:6987890..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-7895074)x1 copy number loss See cases [RCV000139215] Chr8:7411303..7895074 [GRCh38]
Chr8:7268825..7752596 [GRCh37]
Chr8:7256235..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8273109)x3 copy number gain See cases [RCV000138916] Chr8:7381949..8273109 [GRCh38]
Chr8:7239471..8130631 [GRCh37]
Chr8:7226881..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3 copy number gain See cases [RCV000138990] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x1 copy number loss See cases [RCV000138991] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1(chr8:7546074-8222390)x3 copy number gain See cases [RCV000139816] Chr8:7546074..8222390 [GRCh38]
Chr8:7403596..8079912 [GRCh37]
Chr8:7391006..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7205665-7948701)x3 copy number gain See cases [RCV000139683] Chr8:7205665..7948701 [GRCh38]
Chr8:7063187..7806223 [GRCh37]
Chr8:7050597..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.1(chr8:7514108-7948707)x3 copy number gain See cases [RCV000141468] Chr8:7514108..7948707 [GRCh38]
Chr8:7371630..7806229 [GRCh37]
Chr8:7359040..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222339)x1 copy number loss See cases [RCV000141493] Chr8:7381969..8222339 [GRCh38]
Chr8:7239491..8079861 [GRCh37]
Chr8:7226901..8117271 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 copy number loss See cases [RCV000141527] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 copy number gain See cases [RCV000141528] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8222390)x3 copy number gain See cases [RCV000142393] Chr8:7381949..8222390 [GRCh38]
Chr8:7239471..8079912 [GRCh37]
Chr8:7226881..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8222390)x1 copy number loss See cases [RCV000142394] Chr8:7381949..8222390 [GRCh38]
Chr8:7239471..8079912 [GRCh37]
Chr8:7226881..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8222390)x1 copy number loss See cases [RCV000142401] Chr8:7195674..8222390 [GRCh38]
Chr8:7053196..8079912 [GRCh37]
Chr8:7040606..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7895074)x1 copy number loss See cases [RCV000142403] Chr8:7311988..7895074 [GRCh38]
Chr8:7169510..7752596 [GRCh37]
Chr8:7156920..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8188790)x1 copy number loss See cases [RCV000142409] Chr8:7256134..8188790 [GRCh38]
Chr8:7113656..8046312 [GRCh37]
Chr8:7101066..8083722 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7948705)x3 copy number gain See cases [RCV000142470] Chr8:7311988..7948705 [GRCh38]
Chr8:7169510..7806227 [GRCh37]
Chr8:7156920..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7948705)x1 copy number loss See cases [RCV000142471] Chr8:7311988..7948705 [GRCh38]
Chr8:7169510..7806227 [GRCh37]
Chr8:7156920..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1 copy number loss See cases [RCV000142476] Chr8:7195674..7948705 [GRCh38]
Chr8:7053196..7806227 [GRCh37]
Chr8:7040606..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1 copy number loss See cases [RCV000142421] Chr8:7195674..7895074 [GRCh38]
Chr8:7053196..7752596 [GRCh37]
Chr8:7040606..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-7948705)x3 copy number gain See cases [RCV000142482] Chr8:7411303..7948705 [GRCh38]
Chr8:7268825..7806227 [GRCh37]
Chr8:7256235..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7512656-7895074)x1 copy number loss See cases [RCV000142484] Chr8:7512656..7895074 [GRCh38]
Chr8:7370178..7752596 [GRCh37]
Chr8:7357588..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7948705)x1 copy number loss See cases [RCV000142494] Chr8:7381949..7948705 [GRCh38]
Chr8:7239471..7806227 [GRCh37]
Chr8:7226881..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8273109)x3 copy number gain See cases [RCV000142498] Chr8:7311988..8273109 [GRCh38]
Chr8:7169510..8130631 [GRCh37]
Chr8:7156920..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x3 copy number gain See cases [RCV000142429] Chr8:7311988..8222390 [GRCh38]
Chr8:7169510..8079912 [GRCh37]
Chr8:7156920..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1 copy number loss See cases [RCV000142430] Chr8:7311988..8222390 [GRCh38]
Chr8:7169510..8079912 [GRCh37]
Chr8:7156920..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7895074)x3 copy number gain See cases [RCV000142431] Chr8:7311988..7895074 [GRCh38]
Chr8:7169510..7752596 [GRCh37]
Chr8:7156920..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7895074)x1 copy number loss See cases [RCV000142434] Chr8:7381949..7895074 [GRCh38]
Chr8:7239471..7752596 [GRCh37]
Chr8:7226881..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3 copy number gain See cases [RCV000142961] Chr8:6786638..8364508 [GRCh38]
Chr8:6644159..8222024 [GRCh37]
Chr8:6631569..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1 copy number loss See cases [RCV000142847] Chr8:7256137..7981415 [GRCh38]
Chr8:7113659..7838937 [GRCh37]
Chr8:7101069..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7300731-7948701)x1 copy number loss See cases [RCV000142973] Chr8:7300731..7948701 [GRCh38]
Chr8:7158253..7806223 [GRCh37]
Chr8:7145663..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000148205] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 copy number loss See cases [RCV000148229] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000148230] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000148231] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000148154] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000148188] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 copy number gain See cases [RCV000239409] Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 copy number loss See cases [RCV000510827] Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:7053186-11805960)x3 copy number gain See cases [RCV000512636] Chr8:7053186..11805960 [GRCh37]
Chr8:7040596..11843369 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-8881836)x3 copy number gain not provided [RCV000683014] Chr8:6999219..8881836 [GRCh37]
Chr8:8p23.1		 likely pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3 copy number gain not provided [RCV000683030] Chr8:6999219..11898980 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 copy number loss not provided [RCV000747246] Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 copy number loss not provided [RCV000747247] Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 copy number loss not provided [RCV000747253] Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:7191245-8165004)x1 copy number loss not provided [RCV000747344] Chr8:7191245..8165004 [GRCh37]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 copy number loss not provided [RCV000762736] Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Tetralogy of Fallot [RCV000767677] Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3 copy number gain not provided [RCV001006060] Chr8:6999219..11895232 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_004942.4(DEFB4A):c.48G>A (p.Met16Ile) single nucleotide variant not provided [RCV000952929] Chr8:7894760 [GRCh38]
Chr8:7752282 [GRCh37]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3 copy number gain not provided [RCV002472889] Chr8:6284373..9047178 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6999219-8641125)x3 copy number gain not provided [RCV001006061] Chr8:6999219..8641125 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 copy number loss Cerebellar ataxia [RCV001251057] Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 copy number gain not provided [RCV001827598] Chr8:158048..11936107 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) copy number gain Neurodevelopmental delay [RCV002280754] Chr8:158048..10348413 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 copy number loss See cases [RCV002287568] Chr8:158048..11281408 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1 copy number loss not provided [RCV002474566] Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_004942.4(DEFB4A):c.119C>T (p.Pro40Leu) single nucleotide variant not specified [RCV004087077] Chr8:7896534 [GRCh38]
Chr8:7754056 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_004942.4(DEFB4A):c.40T>A (p.Phe14Ile) single nucleotide variant not specified [RCV004233538] Chr8:7894752 [GRCh38]
Chr8:7752274 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_004942.4(DEFB4A):c.95T>G (p.Leu32Arg) single nucleotide variant not specified [RCV004136609] Chr8:7896510 [GRCh38]
Chr8:7754032 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1 copy number loss See cases [RCV003329533] Chr8:10501..11142629 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3 copy number gain 8p23.1 duplication syndrome [RCV003329529] Chr8:7080281..12045269 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 copy number loss not provided [RCV003482997] Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1 copy number loss not provided [RCV003482999] Chr8:158049..11898696 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3 copy number gain See cases [RCV004442825] Chr8:158049..16225393 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3 copy number gain not provided [RCV004577466] Chr8:7153587..12245784 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_004942.4(DEFB4A):c.49C>T (p.Pro17Ser) single nucleotide variant not specified [RCV004613790] Chr8:7894761 [GRCh38]
Chr8:7752283 [GRCh37]
Chr8:8p23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:207
Count of miRNA genes:202
Interacting mature miRNAs:207
Transcripts:ENST00000302247
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
90 395 372 120 666 116 560 111 114 9 571 455 524 154 143 223 525 102

Sequence


RefSeq Acc Id: NM_004942   ⟹   NP_004933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,894,677 - 7,896,716 (+)NCBI
GRCh3787,752,199 - 7,754,237 (+)ENTREZGENE
Build 3687,789,609 - 7,791,647 (+)NCBI Archive
CHM1_187,817,745 - 7,819,911 (+)NCBI
T2T-CHM13v2.0812,040,687 - 12,042,691 (+)NCBI
Sequence:
RefSeq Acc Id: NP_004933   ⟸   NM_004942
- Peptide Label: precursor
- UniProtKB: Q52LC0 (UniProtKB/Swiss-Prot),   O15263 (UniProtKB/Swiss-Prot)
- Sequence:

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15263-F1-model_v2 AlphaFold O15263 1-64 view protein structure

Promoters
RGD ID:7212589
Promoter ID:EPDNEW_H12040
Type:multiple initiation site
Name:DEFB4A_1
Description:defensin beta 4A
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
GRCh3887,894,677 - 7,894,737EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2767 AgrOrtholog
COSMIC DEFB4A COSMIC
Ensembl Genes ENSG00000171711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000177257 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000275444 UniProtKB/Swiss-Prot
  ENSG00000285181 UniProtKB/Swiss-Prot
  ENSG00000285433 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302247 ENTREZGENE
  ENST00000302247.3 UniProtKB/Swiss-Prot
  ENST00000318157.3 UniProtKB/Swiss-Prot
  ENST00000617136.2 UniProtKB/Swiss-Prot
  ENST00000642856.2 UniProtKB/Swiss-Prot
  ENST00000644124.2 UniProtKB/Swiss-Prot
GTEx ENSG00000171711 GTEx
  ENSG00000177257 GTEx
  ENSG00000275444 GTEx
  ENSG00000285181 GTEx
  ENSG00000285433 GTEx
HGNC ID HGNC:2767 ENTREZGENE
Human Proteome Map DEFB4A Human Proteome Map
InterPro Defensin_beta-typ UniProtKB/Swiss-Prot
  Defensin_beta/alpha UniProtKB/Swiss-Prot
KEGG Report hsa:100289462 UniProtKB/Swiss-Prot
  hsa:1673 UniProtKB/Swiss-Prot
NCBI Gene 1673 ENTREZGENE
OMIM 602215 OMIM
PANTHER BETA-DEFENSIN UniProtKB/Swiss-Prot
  BETA-DEFENSIN 4A UniProtKB/Swiss-Prot
Pfam Defensin_beta UniProtKB/Swiss-Prot
PharmGKB PA27249 PharmGKB
SMART DEFSN UniProtKB/Swiss-Prot
Superfamily-SCOP Defensin-like UniProtKB/Swiss-Prot
UniProt DFB4A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q52LC0 ENTREZGENE
UniProt Secondary Q52LC0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DEFB4A  defensin beta 4A  DEFB4A  defensin, beta 4A  Symbol and/or name change 5135510 APPROVED
2011-07-27 DEFB4A  defensin, beta 4A  DEFB4  defensin, beta 4  Symbol and/or name change 5135510 APPROVED