DEFB105B (defensin beta 105B) - Rat Genome Database

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Gene: DEFB105B (defensin beta 105B) Homo sapiens
Analyze
Symbol: DEFB105B (Ensembl: DEFB105A)
Name: defensin beta 105B (Ensembl:defensin beta 105A)
RGD ID: 1604132
HGNC Page HGNC:29930
Description: Predicted to be involved in defense response to bacterium and innate immune response. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BD-5; beta-defensin 105; beta-defensin 5; DEFB-5; DEFB105A; defensin, beta 105; defensin, beta 105B
RGD Orthologs
Rat
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
GRCh3887,487,679 - 7,489,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,487,679 - 7,489,593 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,821,004 - 7,823,880 (-)EnsemblGRCh38hg38GRCh38
GRCh3787,345,201 - 7,347,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,332,653 - 7,334,483 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map8p23.1NCBI
HuRef86,962,782 - 6,964,605 (-)NCBIHuRef
CHM1_187,280,720 - 7,282,550 (-)NCBICHM1_1
T2T-CHM13v2.087,216,697 - 7,218,608 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
aflatoxin B1  (EXP)
propanal  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11854508   PMID:12193721   PMID:12477932   PMID:12734011   PMID:12916016   PMID:15588320   PMID:15727258   PMID:16033865   PMID:21861459   PMID:32296183  


Genomics

Comparative Map Data
DEFB105B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,487,679 - 7,489,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,487,679 - 7,489,593 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,821,004 - 7,823,880 (-)EnsemblGRCh38hg38GRCh38
GRCh3787,345,201 - 7,347,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,332,653 - 7,334,483 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map8p23.1NCBI
HuRef86,962,782 - 6,964,605 (-)NCBIHuRef
CHM1_187,280,720 - 7,282,550 (-)NCBICHM1_1
T2T-CHM13v2.087,216,697 - 7,218,608 (+)NCBIT2T-CHM13v2.0
Defb105b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,428,110 - 77,431,282 (+)NCBIGRCr8
mRatBN7.21670,725,687 - 70,728,859 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1670,136,218 - 70,138,633 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1670,725,701 - 70,728,143 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1675,409,907 - 75,412,322 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01678,872,772 - 78,875,216 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01674,122,186 - 74,124,630 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01675,118,002 - 75,120,417 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,118,002 - 75,120,417 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01674,737,487 - 74,739,902 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41674,813,231 - 74,815,646 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1668,590,526 - 68,592,947 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
LOC106506206
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11537,982,133 - 37,989,094 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21543,180,220 - 43,183,297 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in DEFB105B
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr8:7195664-7948707)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(chr8:7195664-7895064)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-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 8p23.3-22(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 8p23.3-12(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(chr8:7311968-8222398)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(chr8:7411297-8429785)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(chr8:7381969-7895064)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 8p23.3-23.1(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(chr8:7195664-8222398)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(chr8:7195664-7834438)x1 copy number loss See cases [RCV000133666] Chr8:7195664..7834438 [GRCh38]
Chr8:7053186..7691960 [GRCh37]
Chr8:7040596..7729370 [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(chr8:7381949-7560508)x3 copy number gain See cases [RCV000134048] Chr8:7381949..7560508 [GRCh38]
Chr8:7239471..7418030 [GRCh37]
Chr8:7226881..7405440 [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(chr8:7381949-7834323)x3 copy number gain See cases [RCV000134112] Chr8:7381949..7834323 [GRCh38]
Chr8:7239471..7691845 [GRCh37]
Chr8:7226881..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7834323)x1 copy number loss See cases [RCV000134113] Chr8:7381949..7834323 [GRCh38]
Chr8:7239471..7691845 [GRCh37]
Chr8:7226881..7729255 [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(chr8:7381969-7834438)x3 copy number gain See cases [RCV000133972] Chr8:7381969..7834438 [GRCh38]
Chr8:7239491..7691960 [GRCh37]
Chr8:7226901..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7546159)x1 copy number loss See cases [RCV000133973] Chr8:7381969..7546159 [GRCh38]
Chr8:7239491..7403681 [GRCh37]
Chr8:7226901..7391091 [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(chr8:7381949-7546133)x3 copy number gain See cases [RCV000134090] Chr8:7381949..7546133 [GRCh38]
Chr8:7239471..7403655 [GRCh37]
Chr8:7226881..7391065 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7546133)x1 copy number loss See cases [RCV000134091] Chr8:7381949..7546133 [GRCh38]
Chr8:7239471..7403655 [GRCh37]
Chr8:7226881..7391065 [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(chr8:7311968-7834438)x3 copy number gain See cases [RCV000133916] Chr8:7311968..7834438 [GRCh38]
Chr8:7169490..7691960 [GRCh37]
Chr8:7156900..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7834438)x1 copy number loss See cases [RCV000133917] Chr8:7311968..7834438 [GRCh38]
Chr8:7169490..7691960 [GRCh37]
Chr8:7156900..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7546159)x3 copy number gain See cases [RCV000133918] Chr8:7311968..7546159 [GRCh38]
Chr8:7169490..7403681 [GRCh37]
Chr8:7156900..7391091 [NCBI36]
Chr8:8p23.1		 benign
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(chr8:241530-10191595)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(chr8:7195674-7834323)x1 copy number loss See cases [RCV000134832] Chr8:7195674..7834323 [GRCh38]
Chr8:7053196..7691845 [GRCh37]
Chr8:7040606..7729255 [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(chr8:7381998-7514138)x1 copy number loss See cases [RCV000136298] Chr8:7381998..7514138 [GRCh38]
Chr8:7239520..7371660 [GRCh37]
Chr8:7226930..7359070 [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(chr8:7471088-7802122)x1 copy number loss See cases [RCV000136364] Chr8:7471088..7802122 [GRCh38]
Chr8:7328610..7659644 [GRCh37]
Chr8:7316020..7697054 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7802122)x1 copy number loss See cases [RCV000136372] Chr8:7311998..7802122 [GRCh38]
Chr8:7169520..7659644 [GRCh37]
Chr8:7156930..7697054 [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(chr8:7311998-8222368)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(chr8:7311968-12546553)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)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(chr8:7471088-7806884)x1 copy number loss See cases [RCV000136456] Chr8:7471088..7806884 [GRCh38]
Chr8:7328610..7664406 [GRCh37]
Chr8:7316020..7701816 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7471088-7834408)x1 copy number loss See cases [RCV000136465] Chr8:7471088..7834408 [GRCh38]
Chr8:7328610..7691930 [GRCh37]
Chr8:7316020..7729340 [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 8p23.3-21.3(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 8p23.3-21.2(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 8p23.1(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(chr8:7195674-8273109)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 8p23.3-11.23(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 8p23.3-23.1(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-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 8p23.3-12(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 8p23.1(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(chr8:7205665-7948701)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(chr8:7381969-8222339)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(chr8:7311988-7834323)x1 copy number loss See cases [RCV000142422] Chr8:7311988..7834323 [GRCh38]
Chr8:7169510..7691845 [GRCh37]
Chr8:7156920..7729255 [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(chr8:7311988-7834323)x3 copy number gain See cases [RCV000142426] Chr8:7311988..7834323 [GRCh38]
Chr8:7169510..7691845 [GRCh37]
Chr8:7156920..7729255 [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 8p23.3-23.1(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(chr8:7411297-8222398)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 8p23.2-21.1(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
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 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 8p23.3-22(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 8p23.3-23.1(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(chr8:158048-13309069)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
NM_001040703.3(DEFB105B):c.214C>G (p.Leu72Val) single nucleotide variant not specified [RCV004287652] Chr8:7489528 [GRCh38]
Chr8:7347050 [GRCh37]
Chr8:8p23.1		 uncertain significance
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 8p23.1(chr8:6999219-8881836)x3 copy number gain not provided [RCV000683014] Chr8:6999219..8881836 [GRCh37]
Chr8:8p23.1		 likely 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 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 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(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3 copy number gain not provided [RCV000683030] Chr8:6999219..11898980 [GRCh37]
Chr8:8p23.1		 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-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(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(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22		 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(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [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(chr8:6999219-8641125)x3 copy number gain not provided [RCV001006061] Chr8:6999219..8641125 [GRCh37]
Chr8:8p23.1		 uncertain significance
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(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [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 8p23.1(chr8:6284373-9047178)x3 copy number gain not provided [RCV002472889] Chr8:6284373..9047178 [GRCh37]
Chr8:8p23.1		 uncertain significance
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(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
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
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 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 copy number gain not provided [RCV001827598] Chr8:158048..11936107 [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
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 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
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
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(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [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(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 copy number loss not provided [RCV003482997] Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1		 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-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
NM_001040703.3(DEFB105B):c.200G>T (p.Cys67Phe) single nucleotide variant not specified [RCV004368200] Chr8:7489514 [GRCh38]
Chr8:7347036 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3 copy number gain not provided [RCV004577466] Chr8:7153587..12245784 [GRCh37]
Chr8:8p23.1		 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
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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:103
Count of miRNA genes:100
Interacting mature miRNAs:103
Transcripts:ENST00000335510
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
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
4 11 5 8 24 6 8 6 14 6 25 26 18 3 24 7 6

Sequence


RefSeq Acc Id: NM_001040703   ⟹   NP_001035793
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,487,679 - 7,489,593 (+)NCBI
GRCh3787,345,243 - 7,347,073 (+)RGD
Build 3687,332,653 - 7,334,483 (+)NCBI Archive
HuRef86,962,782 - 6,964,605 (-)RGD
CHM1_187,280,678 - 7,282,602 (-)NCBI
T2T-CHM13v2.087,216,697 - 7,218,608 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001035793   ⟸   NM_001040703
- Peptide Label: precursor
- UniProtKB: A1A581 (UniProtKB/Swiss-Prot),   Q8IZN8 (UniProtKB/Swiss-Prot),   Q8NG35 (UniProtKB/Swiss-Prot),   B2RU30 (UniProtKB/TrEMBL),   A0A0K0K1I4 (UniProtKB/TrEMBL)
- Sequence:
Protein Domains
Beta-defensin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NG35-F1-model_v2 AlphaFold Q8NG35 1-78 view protein structure

Promoters
RGD ID:7212571
Promoter ID:EPDNEW_H12032
Type:multiple initiation site
Name:DEFB105B_1
Description:defensin beta 105B
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
GRCh3887,487,679 - 7,487,739EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29930 AgrOrtholog
COSMIC DEFB105B COSMIC
Ensembl Genes ENSG00000186562 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000186599 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000274729 UniProtKB/Swiss-Prot
  ENSG00000285015 UniProtKB/Swiss-Prot
  ENSG00000285411 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000334773.7 UniProtKB/Swiss-Prot
  ENST00000335510 ENTREZGENE
  ENST00000335510.7 UniProtKB/Swiss-Prot
  ENST00000611610.1 UniProtKB/Swiss-Prot
  ENST00000644948.2 UniProtKB/Swiss-Prot
  ENST00000646529.3 UniProtKB/Swiss-Prot
GTEx ENSG00000186562 GTEx
  ENSG00000186599 GTEx
  ENSG00000274729 GTEx
  ENSG00000285015 GTEx
  ENSG00000285411 GTEx
HGNC ID HGNC:29930 ENTREZGENE
Human Proteome Map DEFB105B Human Proteome Map
InterPro Beta_defensin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:245908 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:504180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 504180 ENTREZGENE
Pfam Defensin_beta_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671991 PharmGKB
UniProt A0A0K0K1I4 ENTREZGENE, UniProtKB/TrEMBL
  A1A581 ENTREZGENE
  B2RU30 ENTREZGENE, UniProtKB/TrEMBL
  D105A_HUMAN UniProtKB/Swiss-Prot
  Q8IZN8 ENTREZGENE
  Q8NG35 ENTREZGENE
UniProt Secondary A1A581 UniProtKB/Swiss-Prot
  Q8IZN8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DEFB105B  defensin beta 105B    defensin, beta 105B  Symbol and/or name change 5135510 APPROVED