ITGB4 (integrin subunit beta 4) - Rat Genome Database

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Gene: ITGB4 (integrin subunit beta 4) Homo sapiens
Analyze
Symbol: ITGB4
Name: integrin subunit beta 4
RGD ID: 733257
HGNC Page HGNC
Description: Enables G protein-coupled receptor binding activity. Contributes to insulin-like growth factor I binding activity and neuregulin binding activity. Involved in several processes, including hemidesmosome assembly; nail development; and skin morphogenesis. Located in several cellular components, including cell surface; hemidesmosome; and nucleus. Part of receptor complex. Implicated in epidermolysis bullosa simplex localized type; junctional epidermolysis bullosa non-Herlitz type; and junctional epidermolysis bullosa with pyloric atresia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD104; CD104 antigen; GP150; integrin beta 4; integrin beta-4; integrin beta-4 subunit; integrin, beta 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,721,328 - 75,757,818 (+)EnsemblGRCh38hg38GRCh38
GRCh381775,721,339 - 75,757,819 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,717,539 - 73,753,899 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,229,111 - 71,265,494 (+)NCBINCBI36hg18NCBI36
Build 341771,229,110 - 71,265,493NCBI
Celera1770,307,618 - 70,343,945 (+)NCBI
Cytogenetic Map17q25.1NCBI
HuRef1769,141,364 - 69,178,763 (+)NCBIHuRef
CHM1_11773,782,244 - 73,818,973 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(E)-roxithromycin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-carotene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
cadmium nitrate  (EXP)
calcitriol  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clarithromycin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dichromium trioxide  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (EXP)
fipronil  (ISO)
folic acid  (ISO)
furan  (ISO)
glycidol  (ISO)
glycine betaine  (ISO)
hydrogen peroxide  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
methotrexate  (EXP)
methylseleninic acid  (EXP)
ML-7  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nickel subsulfide  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
ochratoxin A  (ISO)
ofloxacin  (EXP)
omega-6 fatty acid  (EXP)
ozone  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
propanal  (EXP)
rac-lactic acid  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
sulindac  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (ISO)
Y-27632  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of dental color  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the urethra  (IAGP)
Acral blistering  (IAGP)
Anemia  (IAGP)
Anonychia  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia cutis congenita of scalp  (IAGP)
Aplasia cutis congenita on trunk or limbs  (IAGP)
Aplasia cutis congenita over the scalp vertex  (IAGP)
Aplasia of the bladder  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Atrophic scars  (IAGP)
Atrophic, patchy alopecia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axillary pterygium  (IAGP)
Calvarial skull defect  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Congenital localized absence of skin  (IAGP)
Congenital onset  (IAGP)
Congenital pyloric atresia  (IAGP)
Death in infancy  (IAGP)
Dental enamel pits  (IAGP)
Dystrophic fingernails  (IAGP)
Dystrophic toenail  (IAGP)
Ectropion  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated maternal serum alpha-fetoprotein  (IAGP)
Enamel hypoplasia  (IAGP)
Esophageal atresia  (IAGP)
Facial palsy  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Fragile nails  (IAGP)
Fragile skin  (IAGP)
Glomerular sclerosis  (IAGP)
Growth delay  (IAGP)
Hematuria  (IAGP)
Heterogeneous  (IAGP)
Hydronephrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hypodontia  (IAGP)
Hypoplastic dermoepidermal hemidesmosomes  (IAGP)
Intestinal atresia  (IAGP)
Intractable diarrhea  (IAGP)
Limb joint contracture  (IAGP)
Microtia  (IAGP)
Milia  (IAGP)
Mitten deformity  (IAGP)
Muscular dystrophy  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Nausea and vomiting  (IAGP)
Nephrotic syndrome  (IAGP)
Oral mucosal blisters  (IAGP)
Palmar hyperhidrosis  (IAGP)
Palmoplantar blistering  (IAGP)
Palmoplantar keratoderma  (IAGP)
Plantar hyperkeratosis  (IAGP)
Polyhydramnios  (IAGP)
Prolonged bleeding time  (IAGP)
Pterygium  (IAGP)
Recurrent skin infections  (IAGP)
Renal duplication  (IAGP)
Renal dysplasia  (IAGP)
Scarring alopecia of scalp  (IAGP)
Skin detachment  (IAGP)
Skin erosion  (IAGP)
Skin fragility with non-scarring blistering  (IAGP)
Skin ulcer  (IAGP)
Sparse axillary hair  (IAGP)
Sparse body hair  (IAGP)
Sparse pubic hair  (IAGP)
Spinal dysraphism  (IAGP)
Subepidermal blistering with cleavage in the lamina lucida  (IAGP)
Toe syndactyly  (IAGP)
Ureterocele  (IAGP)
Urethral stricture  (IAGP)
Urinary bladder inflammation  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:1693624   PMID:1976638   PMID:2070796   PMID:2138612   PMID:2311577   PMID:2311578   PMID:2542022   PMID:2649503   PMID:7545057   PMID:7556090   PMID:7982032   PMID:8444901  
PMID:9166594   PMID:9171350   PMID:9194858   PMID:9207246   PMID:9344615   PMID:9374518   PMID:9422533   PMID:9428518   PMID:9500991   PMID:9546354   PMID:9660880   PMID:9792864  
PMID:9837976   PMID:9892956   PMID:10428948   PMID:10477766   PMID:10484780   PMID:10504457   PMID:10637308   PMID:10671376   PMID:10711425   PMID:10727209   PMID:10792571   PMID:10811835  
PMID:10873890   PMID:11044453   PMID:11251584   PMID:11289717   PMID:11320086   PMID:11328943   PMID:11375975   PMID:11389095   PMID:11684709   PMID:11733063   PMID:11809527   PMID:11848444  
PMID:11884516   PMID:11886501   PMID:12023052   PMID:12105188   PMID:12107410   PMID:12110680   PMID:12119179   PMID:12167101   PMID:12168086   PMID:12397374   PMID:12429829   PMID:12441134  
PMID:12477932   PMID:12482924   PMID:12485428   PMID:12499048   PMID:12694355   PMID:12802069   PMID:12865436   PMID:12919677   PMID:14512419   PMID:14517202   PMID:14602071   PMID:14668477  
PMID:15009117   PMID:15121854   PMID:15161909   PMID:15194479   PMID:15302884   PMID:15304080   PMID:15367640   PMID:15381079   PMID:15387376   PMID:15542431   PMID:15579904   PMID:15611341  
PMID:15707651   PMID:15817481   PMID:15951569   PMID:16007143   PMID:16258729   PMID:16335952   PMID:16436605   PMID:16537545   PMID:16581764   PMID:16707493   PMID:16713569   PMID:16740748  
PMID:16757171   PMID:16870608   PMID:16878156   PMID:16914518   PMID:16964243   PMID:16965770   PMID:17314405   PMID:17515951   PMID:17711859   PMID:17964297   PMID:18224668   PMID:18270579  
PMID:18281537   PMID:18299254   PMID:18348258   PMID:18550570   PMID:18729074   PMID:18814027   PMID:18824633   PMID:18940803   PMID:18955862   PMID:18959757   PMID:18971471   PMID:18974120  
PMID:19005215   PMID:19061949   PMID:19074885   PMID:19087978   PMID:19094228   PMID:19124484   PMID:19138983   PMID:19151752   PMID:19199708   PMID:19242489   PMID:19403692   PMID:19567674  
PMID:19586553   PMID:19597468   PMID:19670701   PMID:19710103   PMID:19913121   PMID:19923172   PMID:19933311   PMID:20181947   PMID:20301304   PMID:20301336   PMID:20301481   PMID:20301543  
PMID:20307589   PMID:20364299   PMID:20509141   PMID:20510671   PMID:20512931   PMID:20603614   PMID:20628086   PMID:20682778   PMID:20695903   PMID:20705595   PMID:20729552   PMID:20855525  
PMID:20936779   PMID:20937830   PMID:20955205   PMID:21098729   PMID:21310825   PMID:21388972   PMID:21696367   PMID:21769085   PMID:21873635   PMID:21880726   PMID:21963679   PMID:21969027  
PMID:22049212   PMID:22304920   PMID:22308039   PMID:22351760   PMID:22493440   PMID:22496621   PMID:22545078   PMID:22673183   PMID:22865863   PMID:22898364   PMID:22917688   PMID:22939629  
PMID:23013259   PMID:23154389   PMID:23212923   PMID:23348745   PMID:23382219   PMID:23496044   PMID:23499737   PMID:23611113   PMID:23617461   PMID:23803695   PMID:23884246   PMID:24006899  
PMID:24007983   PMID:24149370   PMID:24189400   PMID:24324549   PMID:24418536   PMID:24533083   PMID:24740264   PMID:24807042   PMID:24851274   PMID:25234746   PMID:25326539   PMID:25472585  
PMID:25531330   PMID:25550552   PMID:25599535   PMID:25670202   PMID:25703379   PMID:25728941   PMID:25798074   PMID:25808196   PMID:25849406   PMID:25852190   PMID:25945837   PMID:25997717  
PMID:26037302   PMID:26223322   PMID:26350464   PMID:26381405   PMID:26395630   PMID:26496610   PMID:26549523   PMID:26572585   PMID:26580203   PMID:26618866   PMID:26646105   PMID:26739954  
PMID:26751774   PMID:26996299   PMID:27013376   PMID:27107458   PMID:27109471   PMID:27178753   PMID:27186702   PMID:27576135   PMID:27641064   PMID:27763564   PMID:27780825   PMID:27922761  
PMID:28084395   PMID:28270621   PMID:28286026   PMID:28782483   PMID:28873464   PMID:28926098   PMID:28986522   PMID:29507755   PMID:29526452   PMID:29700202   PMID:29976561   PMID:30056265  
PMID:30106452   PMID:30361615   PMID:30636108   PMID:30658712   PMID:30922568   PMID:30979931   PMID:31006587   PMID:31184804   PMID:31262785   PMID:31534187   PMID:31541017   PMID:31789389  
PMID:31889588   PMID:31914171   PMID:32044807   PMID:32296183   PMID:32376286   PMID:32418639   PMID:32736699   PMID:33005030   PMID:34036687  


Genomics

Comparative Map Data
ITGB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,721,328 - 75,757,818 (+)EnsemblGRCh38hg38GRCh38
GRCh381775,721,339 - 75,757,819 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,717,539 - 73,753,899 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,229,111 - 71,265,494 (+)NCBINCBI36hg18NCBI36
Build 341771,229,110 - 71,265,493NCBI
Celera1770,307,618 - 70,343,945 (+)NCBI
Cytogenetic Map17q25.1NCBI
HuRef1769,141,364 - 69,178,763 (+)NCBIHuRef
CHM1_11773,782,244 - 73,818,973 (+)NCBICHM1_1
Itgb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,865,551 - 115,899,238 (+)NCBIGRCm39mm39
GRCm39 Ensembl11115,865,535 - 115,899,238 (+)Ensembl
GRCm3811115,974,725 - 116,008,412 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,974,709 - 116,008,412 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711115,836,039 - 115,869,725 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611115,791,069 - 115,824,502 (+)NCBImm8
Celera11127,737,663 - 127,770,611 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.91NCBI
Itgb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210101,206,657 - 101,243,012 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl10101,206,665 - 101,243,012 (+)Ensembl
Rnor_6.010104,524,000 - 104,560,180 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,523,996 - 104,561,078 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010103,725,179 - 103,761,358 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410106,080,452 - 106,116,632 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.110106,094,955 - 106,131,136 (+)NCBI
Celera1099,781,746 - 99,817,137 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Itgb4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555066,493,466 - 6,526,778 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555066,493,466 - 6,526,778 (-)NCBIChiLan1.0ChiLan1.0
ITGB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11775,222,441 - 75,259,401 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,222,376 - 75,259,401 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01769,671,252 - 69,708,520 (+)NCBIMhudiblu_PPA_v0panPan3
ITGB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,825,148 - 4,855,266 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,825,292 - 4,855,820 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,504,986 - 5,534,992 (-)NCBI
ROS_Cfam_1.095,495,318 - 5,525,359 (-)NCBI
UMICH_Zoey_3.195,534,766 - 5,564,815 (-)NCBI
UNSW_CanFamBas_1.095,644,907 - 5,674,940 (-)NCBI
UU_Cfam_GSD_1.095,705,723 - 5,735,767 (-)NCBI
Itgb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,467,140 - 5,499,662 (-)NCBI
SpeTri2.0NW_004936594912,302 - 944,819 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,651,292 - 5,685,611 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1125,651,292 - 5,685,601 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,597,667 - 5,631,833 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ITGB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11645,926,543 - 45,962,967 (-)NCBI
Vero_WHO_p1.0NW_02366607716,683,754 - 16,721,078 (-)NCBI
Itgb4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248015,613,752 - 5,646,046 (+)NCBI

Position Markers
RH47571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,753,695 - 73,753,833UniSTSGRCh37
Build 361771,265,290 - 71,265,428RGDNCBI36
Celera1770,343,741 - 70,343,879RGD
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25UniSTS
HuRef1769,178,559 - 69,178,697UniSTS
GeneMap99-GB4 RH Map17482.47UniSTS
NCBI RH Map17787.2UniSTS
SHGC-111569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,735,494 - 73,735,597UniSTSGRCh37
Build 361771,247,089 - 71,247,192RGDNCBI36
Celera1770,325,599 - 70,325,702RGD
Cytogenetic Map17q25UniSTS
HuRef1769,160,353 - 69,160,456UniSTS
TNG Radiation Hybrid Map1733700.0UniSTS
RH18101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,753,597 - 73,753,787UniSTSGRCh37
Build 361771,265,192 - 71,265,382RGDNCBI36
Celera1770,343,643 - 70,343,833RGD
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25UniSTS
HuRef1769,178,461 - 69,178,651UniSTS
GeneMap99-GB4 RH Map17482.47UniSTS
NCBI RH Map17784.1UniSTS
ITGB4_2759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,753,463 - 73,753,886UniSTSGRCh37
Build 361771,265,058 - 71,265,481RGDNCBI36
Celera1770,343,509 - 70,343,932RGD
HuRef1769,178,327 - 69,178,750UniSTS
ksks329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,751,893 - 73,752,534UniSTSGRCh37
Celera1770,341,939 - 70,342,580UniSTS
HuRef1769,176,757 - 69,177,398UniSTS
D17S2049  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4412
Count of miRNA genes:937
Interacting mature miRNAs:1180
Transcripts:ENST00000200181, ENST00000339591, ENST00000449880, ENST00000450894, ENST00000578318, ENST00000579211, ENST00000579662, ENST00000580542, ENST00000582629, ENST00000583327, ENST00000584025, ENST00000584374, ENST00000584558, ENST00000584939
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 12 1 2 3 1
Medium 2400 934 845 214 466 55 3022 921 2319 203 895 1334 169 1095 1748 4
Low 18 1773 839 376 903 375 1294 1258 1397 213 558 239 5 1 109 1031 2 2
Below cutoff 8 278 42 34 557 34 37 16 15 3 5 31 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI318403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC118916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA391583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000200181   ⟹   ENSP00000200181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,721,459 - 75,757,818 (+)Ensembl
RefSeq Acc Id: ENST00000449880   ⟹   ENSP00000400217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,724,696 - 75,757,818 (+)Ensembl
RefSeq Acc Id: ENST00000450894   ⟹   ENSP00000405536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,721,497 - 75,757,815 (+)Ensembl
RefSeq Acc Id: ENST00000578318   ⟹   ENSP00000462494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,757,039 - 75,757,818 (+)Ensembl
RefSeq Acc Id: ENST00000579211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,754,483 - 75,755,778 (+)Ensembl
RefSeq Acc Id: ENST00000579662   ⟹   ENSP00000463651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,721,328 - 75,757,604 (+)Ensembl
RefSeq Acc Id: ENST00000580542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,721,509 - 75,741,105 (+)Ensembl
RefSeq Acc Id: ENST00000582629   ⟹   ENSP00000463788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,727,801 - 75,757,818 (+)Ensembl
RefSeq Acc Id: ENST00000583327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,751,813 - 75,755,808 (+)Ensembl
RefSeq Acc Id: ENST00000584025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,742,424 - 75,749,045 (+)Ensembl
RefSeq Acc Id: ENST00000584374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,731,820 - 75,739,905 (+)Ensembl
RefSeq Acc Id: ENST00000584558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,724,704 - 75,742,657 (+)Ensembl
RefSeq Acc Id: ENST00000584939   ⟹   ENSP00000464259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,754,618 - 75,757,002 (+)Ensembl
RefSeq Acc Id: NM_000213   ⟹   NP_000204
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,459 - 75,757,818 (+)NCBI
GRCh371773,717,516 - 73,753,899 (+)ENTREZGENE
Build 361771,229,111 - 71,265,494 (+)NCBI Archive
HuRef1769,141,364 - 69,178,763 (+)ENTREZGENE
CHM1_11773,782,136 - 73,818,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005619   ⟹   NP_001005619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,724,696 - 75,757,818 (+)NCBI
GRCh371773,717,516 - 73,753,899 (+)ENTREZGENE
Build 361771,232,371 - 71,265,494 (+)NCBI Archive
HuRef1769,141,364 - 69,178,763 (+)ENTREZGENE
CHM1_11773,785,504 - 73,818,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005731   ⟹   NP_001005731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,459 - 75,757,818 (+)NCBI
GRCh371773,717,516 - 73,753,899 (+)ENTREZGENE
Build 361771,229,111 - 71,265,494 (+)NCBI Archive
HuRef1769,141,364 - 69,178,763 (+)ENTREZGENE
CHM1_11773,782,136 - 73,818,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321123   ⟹   NP_001308052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,459 - 75,757,818 (+)NCBI
CHM1_11773,782,136 - 73,818,973 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257309   ⟹   XP_005257366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,509 - 75,757,819 (+)NCBI
GRCh371773,717,516 - 73,753,899 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257311   ⟹   XP_005257368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,339 - 75,757,819 (+)NCBI
GRCh371773,717,516 - 73,753,899 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721866   ⟹   XP_006721929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,722,322 - 75,757,819 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721867   ⟹   XP_006721930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,722,325 - 75,757,819 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721868   ⟹   XP_006721931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,722,328 - 75,757,819 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721870   ⟹   XP_006721933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,722,332 - 75,757,819 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524751   ⟹   XP_011523053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,722,324 - 75,757,819 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524752   ⟹   XP_011523054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,736,738 - 75,757,819 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000204 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005731 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308052 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257366 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257368 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721929 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721930 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721931 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721933 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523053 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523054 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB65421 (Get FASTA)   NCBI Sequence Viewer  
  AAB65422 (Get FASTA)   NCBI Sequence Viewer  
  AAC51632 (Get FASTA)   NCBI Sequence Viewer  
  AAC51633 (Get FASTA)   NCBI Sequence Viewer  
  AAC51634 (Get FASTA)   NCBI Sequence Viewer  
  AAI09239 (Get FASTA)   NCBI Sequence Viewer  
  AAI18917 (Get FASTA)   NCBI Sequence Viewer  
  AAI26412 (Get FASTA)   NCBI Sequence Viewer  
  AAI43739 (Get FASTA)   NCBI Sequence Viewer  
  AAI43743 (Get FASTA)   NCBI Sequence Viewer  
  BAD92150 (Get FASTA)   NCBI Sequence Viewer  
  BAG65542 (Get FASTA)   NCBI Sequence Viewer  
  CAA36134 (Get FASTA)   NCBI Sequence Viewer  
  CAA36433 (Get FASTA)   NCBI Sequence Viewer  
  CAA37656 (Get FASTA)   NCBI Sequence Viewer  
  CAB61345 (Get FASTA)   NCBI Sequence Viewer  
  EAW89305 (Get FASTA)   NCBI Sequence Viewer  
  EAW89306 (Get FASTA)   NCBI Sequence Viewer  
  EAW89307 (Get FASTA)   NCBI Sequence Viewer  
  EAW89308 (Get FASTA)   NCBI Sequence Viewer  
  EAW89309 (Get FASTA)   NCBI Sequence Viewer  
  EAW89310 (Get FASTA)   NCBI Sequence Viewer  
  EAW89311 (Get FASTA)   NCBI Sequence Viewer  
  EAW89312 (Get FASTA)   NCBI Sequence Viewer  
  EAW89313 (Get FASTA)   NCBI Sequence Viewer  
  EAW89314 (Get FASTA)   NCBI Sequence Viewer  
  EAW89315 (Get FASTA)   NCBI Sequence Viewer  
  P16144 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000204   ⟸   NM_000213
- Peptide Label: isoform 1 precursor
- UniProtKB: P16144 (UniProtKB/Swiss-Prot),   A0A024R8T0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005731   ⟸   NM_001005731
- Peptide Label: isoform 3 precursor
- UniProtKB: P16144 (UniProtKB/Swiss-Prot),   A0A024R8K7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005619   ⟸   NM_001005619
- Peptide Label: isoform 2 precursor
- UniProtKB: P16144 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257368   ⟸   XM_005257311
- Peptide Label: isoform X2
- UniProtKB: A0A024R8N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257366   ⟸   XM_005257309
- Peptide Label: isoform X2
- UniProtKB: A0A024R8N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721929   ⟸   XM_006721866
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006721930   ⟸   XM_006721867
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006721931   ⟸   XM_006721868
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006721933   ⟸   XM_006721870
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011523053   ⟸   XM_011524751
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011523054   ⟸   XM_011524752
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001308052   ⟸   NM_001321123
- Peptide Label: isoform 3 precursor
- UniProtKB: P16144 (UniProtKB/Swiss-Prot),   A0A024R8K7 (UniProtKB/TrEMBL),   B7ZLD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000200181   ⟸   ENST00000200181
RefSeq Acc Id: ENSP00000405536   ⟸   ENST00000450894
RefSeq Acc Id: ENSP00000463788   ⟸   ENST00000582629
RefSeq Acc Id: ENSP00000464259   ⟸   ENST00000584939
RefSeq Acc Id: ENSP00000462494   ⟸   ENST00000578318
RefSeq Acc Id: ENSP00000463651   ⟸   ENST00000579662
RefSeq Acc Id: ENSP00000400217   ⟸   ENST00000449880
Protein Domains
Calx-beta   Fibronectin type-III   INB   Integrin_B_tail   PSI   VWFA

Promoters
RGD ID:6794233
Promoter ID:HG_KWN:27122
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000339591,   NM_000213,   NM_001005731,   UC002JPI.2,   UC010DGO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,228,791 - 71,229,342 (+)MPROMDB
RGD ID:6811205
Promoter ID:HG_ACW:36376
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ITGB4.MAPR07,   ITGB4.OAPR07-UNSPLICED,   ITGB4.QAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,261,431 - 71,262,322 (+)MPROMDB
RGD ID:7236325
Promoter ID:EPDNEW_H23908
Type:multiple initiation site
Name:ITGB4_3
Description:integrin subunit beta 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23909  EPDNEW_H23910  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,720,758 - 75,720,818EPDNEW
RGD ID:7236327
Promoter ID:EPDNEW_H23909
Type:initiation region
Name:ITGB4_2
Description:integrin subunit beta 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23908  EPDNEW_H23910  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,359 - 75,721,419EPDNEW
RGD ID:7236329
Promoter ID:EPDNEW_H23910
Type:initiation region
Name:ITGB4_1
Description:integrin subunit beta 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23908  EPDNEW_H23909  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,721,517 - 75,721,577EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ITGB4, 1-BP INS, 3801T insertion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015850] Chr17:17q11-qter pathogenic
ITGB4, 1-BP DEL, 1150G deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015851] Chr17:17q11-qter pathogenic
NM_000213.5(ITGB4):c.4620del (p.Thr1542fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015852] Chr17:75755759 [GRCh38]
Chr17:73751840 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3793+1G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015857]|not provided [RCV000255841] Chr17:75751112 [GRCh38]
Chr17:73747193 [GRCh37]
Chr17:17q25.1
pathogenic
ITGB4, IVS31DS, T-A, -19 single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015860] Chr17:17q11-qter pathogenic
ITGB4, 2-BP DEL, 4733CT deletion Localized epidermolysis bullosa simplex [RCV000015862] Chr17:17q11-qter pathogenic
ITGB4, 2,279-BP DEL deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015865] Chr17:17q11-qter pathogenic
NM_000213.5(ITGB4):c.566+129_566+130insAAG insertion not provided [RCV001564398] Chr17:75728602..75728603 [GRCh38]
Chr17:73724683..73724684 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.309_310delinsAG (p.Gln104Glu) indel not provided [RCV000722595] Chr17:75727695..75727696 [GRCh38]
Chr17:73723776..73723777 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1792T>C (p.Cys598Arg) single nucleotide variant not provided [RCV000722680] Chr17:75736318 [GRCh38]
Chr17:73732399 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.373C>T (p.Pro125Ser) single nucleotide variant not provided [RCV000722496] Chr17:75727759 [GRCh38]
Chr17:73723840 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.175_207del (p.Arg59_Ala69del) deletion not provided [RCV000521724] Chr17:75727415..75727447 [GRCh38]
Chr17:73723496..73723528 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.599C>A (p.Pro200His) single nucleotide variant not provided [RCV000520602] Chr17:75729297 [GRCh38]
Chr17:73725378 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015853] Chr17:75727853 [GRCh38]
Chr17:73723934 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015854] Chr17:75736053 [GRCh38]
Chr17:73732134 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015855]|not provided [RCV000413122] Chr17:75727423 [GRCh38]
Chr17:73723504 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015856] Chr17:75736077 [GRCh38]
Chr17:73732158 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015858] Chr17:75755785 [GRCh38]
Chr17:73751866 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015859] Chr17:75727227 [GRCh38]
Chr17:73723307 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp) single nucleotide variant Junctional epidermolysis bullosa, non-Herlitz type [RCV000015861] Chr17:75742591 [GRCh38]
Chr17:73738672 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015863]|not provided [RCV000359496] Chr17:75752221 [GRCh38]
Chr17:73748302 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015864] Chr17:75750992 [GRCh38]
Chr17:73747073 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4014G>C (p.Gln1338His) single nucleotide variant Localized epidermolysis bullosa simplex [RCV001197321] Chr17:75752483 [GRCh38]
Chr17:73748564 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1 copy number loss See cases [RCV000053453] Chr17:75636351..75970744 [GRCh38]
Chr17:73632431..73966825 [GRCh37]
Chr17:71144026..71478420 [NCBI36]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2783-2A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000190599] Chr17:75742580 [GRCh38]
Chr17:73738661 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) single nucleotide variant Deficiency of galactokinase [RCV000375888]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000289992]|not provided [RCV001540267]|not specified [RCV000244157] Chr17:75754778 [GRCh38]
Chr17:73750859 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) single nucleotide variant Deficiency of galactokinase [RCV000322321]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000294224]|not specified [RCV000247515] Chr17:75757422 [GRCh38]
Chr17:73753503 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000269368] Chr17:75742381 [GRCh38]
Chr17:73738462 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1860+10A>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000269841] Chr17:75736396 [GRCh38]
Chr17:73732477 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4101T>A (p.Asp1367Glu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000259880] Chr17:75752570 [GRCh38]
Chr17:73748651 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1749C>T (p.Ile583=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000271155] Chr17:75736142 [GRCh38]
Chr17:73732223 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000282833] Chr17:75750111 [GRCh38]
Chr17:73746192 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.600dup (p.Phe201fs) duplication not provided [RCV000302350] Chr17:75729291..75729292 [GRCh38]
Chr17:73725372..73725373 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.5092G>A (p.Glu1698Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000272806] Chr17:75756981 [GRCh38]
Chr17:73753062 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1136G>A (p.Arg379Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000283197] Chr17:75731289 [GRCh38]
Chr17:73727370 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.738+3G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000261751] Chr17:75729439 [GRCh38]
Chr17:73725520 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000261826]|Nephrotic syndrome [RCV001328148]|not provided [RCV000950475] Chr17:75742728 [GRCh38]
Chr17:73738809 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000213.5(ITGB4):c.5219-15A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000276703] Chr17:75757185 [GRCh38]
Chr17:73753266 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2784C>T (p.Asp928=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000277812]|not provided [RCV000842262] Chr17:75742583 [GRCh38]
Chr17:73738664 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000267606]|not provided [RCV000970492] Chr17:75730928 [GRCh38]
Chr17:73727009 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.2025C>T (p.Asp675=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000278921] Chr17:75737356 [GRCh38]
Chr17:73733437 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3793+2dup duplication not provided [RCV000401703] Chr17:75751112..75751113 [GRCh38]
Chr17:73747193..73747194 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.1593C>T (p.Tyr531=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000267769] Chr17:75733628 [GRCh38]
Chr17:73729709 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4441G>A (p.Val1481Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000267845] Chr17:75754698 [GRCh38]
Chr17:73750779 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000279250] Chr17:75748944 [GRCh38]
Chr17:73745025 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4415_4418del (p.His1472fs) deletion not provided [RCV000722402] Chr17:75754672..75754675 [GRCh38]
Chr17:73750753..73750756 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5329+2T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000490437] Chr17:75757312 [GRCh38]
Chr17:73753393 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.3624C>T (p.Ser1208=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000291309] Chr17:75750829 [GRCh38]
Chr17:73746910 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.-125G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000291660] Chr17:75721498 [GRCh38]
Chr17:73717578 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1581C>T (p.Gly527=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000361719] Chr17:75733616 [GRCh38]
Chr17:73729697 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5053+14C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000362066]|not provided [RCV001556550] Chr17:75756873 [GRCh38]
Chr17:73752954 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.1821G>A (p.Ser607=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000380758] Chr17:75736347 [GRCh38]
Chr17:73732428 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000380822]|not provided [RCV000914577] Chr17:75755731 [GRCh38]
Chr17:73751812 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.4709-3del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000292211]|not provided [RCV000879452] Chr17:75756421 [GRCh38]
Chr17:73752502 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000303852]|not provided [RCV000970327] Chr17:75756944 [GRCh38]
Chr17:73753025 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.2833C>T (p.Arg945Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000330491] Chr17:75742632 [GRCh38]
Chr17:73738713 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1539C>T (p.Ser513=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000400149] Chr17:75733574 [GRCh38]
Chr17:73729655 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1893C>G (p.Ser631=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000332040]|not provided [RCV000961520] Chr17:75736597 [GRCh38]
Chr17:73732678 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.-68C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000346679] Chr17:75721555 [GRCh38]
Chr17:73717635 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000382536] Chr17:75757068 [GRCh38]
Chr17:73753149 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000401864]|not provided [RCV001576464] Chr17:75728420 [GRCh38]
Chr17:73724501 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000401984]|not provided [RCV000882414]|not specified [RCV000420802] Chr17:75752241 [GRCh38]
Chr17:73748322 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.5053+10A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000304998] Chr17:75756869 [GRCh38]
Chr17:73752950 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1002+12A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000316849] Chr17:75730516 [GRCh38]
Chr17:73726597 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4319-7C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000317453] Chr17:75754569 [GRCh38]
Chr17:73750650 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5072G>A (p.Arg1691Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000365031] Chr17:75756961 [GRCh38]
Chr17:73753042 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000383527] Chr17:75731334 [GRCh38]
Chr17:73727415 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000402623] Chr17:75755849 [GRCh38]
Chr17:73751930 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1968G>T (p.Lys656Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000294330] Chr17:75736672 [GRCh38]
Chr17:73732753 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000334052]|not provided [RCV000904969] Chr17:75757210 [GRCh38]
Chr17:73753291 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.2634-8C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000366281] Chr17:75742333 [GRCh38]
Chr17:73738414 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000403638]|not provided [RCV000894709] Chr17:75750803 [GRCh38]
Chr17:73746884 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.1377+7C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000294990] Chr17:75731980 [GRCh38]
Chr17:73728061 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000306116]|not provided [RCV000971160] Chr17:75737631 [GRCh38]
Chr17:73733712 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.2962+14G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000319224] Chr17:75742775 [GRCh38]
Chr17:73738856 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4795C>T (p.Arg1599Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000349541] Chr17:75756515 [GRCh38]
Chr17:73752596 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1377+15C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000350085] Chr17:75731988 [GRCh38]
Chr17:73728069 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000386190] Chr17:75757224 [GRCh38]
Chr17:73753305 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2886G>A (p.Val962=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000386692] Chr17:75742685 [GRCh38]
Chr17:73738766 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.210G>A (p.Ala70=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000307065]|not provided [RCV000896858] Chr17:75727451 [GRCh38]
Chr17:73723532 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000320586] Chr17:75754701 [GRCh38]
Chr17:73750782 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000350615] Chr17:75755805 [GRCh38]
Chr17:73751886 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000308145]|not provided [RCV000969099] Chr17:75742437 [GRCh38]
Chr17:73738518 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.2108A>G (p.Lys703Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000336596] Chr17:75737439 [GRCh38]
Chr17:73733520 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.2782+10C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000369900] Chr17:75742499 [GRCh38]
Chr17:73738580 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1945G>A (p.Glu649Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000388860] Chr17:75736649 [GRCh38]
Chr17:73732730 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.*4C>T single nucleotide variant Deficiency of galactokinase [RCV000379238]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000371669] Chr17:75757559 [GRCh38]
Chr17:73753640 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3230G>T (p.Arg1077Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000322588] Chr17:75748959 [GRCh38]
Chr17:73745040 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1093C>T (p.Arg365Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000322660] Chr17:75731246 [GRCh38]
Chr17:73727327 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1533G>A (p.Pro511=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000337278]|not provided [RCV000921799] Chr17:75733568 [GRCh38]
Chr17:73729649 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.1972G>T (p.Val658Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000337670] Chr17:75736676 [GRCh38]
Chr17:73732757 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000337992]|not provided [RCV000892996] Chr17:75757494 [GRCh38]
Chr17:73753575 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.1032A>G (p.Ser344=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000353021]|not provided [RCV000942506] Chr17:75730904 [GRCh38]
Chr17:73726985 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000370688] Chr17:75752238 [GRCh38]
Chr17:73748319 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.282C>T (p.Thr94=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000371079]|not provided [RCV000921798] Chr17:75727668 [GRCh38]
Chr17:73723749 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.1262C>T (p.Thr421Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000389270] Chr17:75731858 [GRCh38]
Chr17:73727939 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5054-15A>G single nucleotide variant Deficiency of galactokinase [RCV000283824]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000265090] Chr17:75756928 [GRCh38]
Chr17:73753009 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.1560C>T (p.Cys520=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000297609] Chr17:75733595 [GRCh38]
Chr17:73729676 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2625C>T (p.Ala875=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000309168] Chr17:75740997 [GRCh38]
Chr17:73737078 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4937C>T (p.Pro1646Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000353827] Chr17:75756743 [GRCh38]
Chr17:73752824 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000371609] Chr17:75743807 [GRCh38]
Chr17:73739888 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.702C>T (p.Gly234=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000311120]|not provided [RCV001534059] Chr17:75729400 [GRCh38]
Chr17:73725481 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000325570] Chr17:75757016 [GRCh38]
Chr17:73753097 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000340007]|Localized epidermolysis bullosa simplex [RCV001262484]|not provided [RCV000996607] Chr17:75740047 [GRCh38]
Chr17:73736128 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.3338C>T (p.Thr1113Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000340506] Chr17:75750132 [GRCh38]
Chr17:73746213 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.708C>T (p.Phe236=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000356549]|not provided [RCV000942505] Chr17:75729406 [GRCh38]
Chr17:73725487 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.*58G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000393217] Chr17:75757613 [GRCh38]
Chr17:73753694 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.*25C>T single nucleotide variant Deficiency of galactokinase [RCV000287232]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000279492] Chr17:75757580 [GRCh38]
Chr17:73753661 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4598G>A (p.Arg1533His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000288815] Chr17:75755740 [GRCh38]
Chr17:73751821 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3976+15G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000299819]|not provided [RCV001566989] Chr17:75752371 [GRCh38]
Chr17:73748452 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.*45C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000341463] Chr17:75757600 [GRCh38]
Chr17:73753681 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000356943]|not provided [RCV000954761]|not specified [RCV000735104] Chr17:75752477 [GRCh38]
Chr17:73748558 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000375947]|not provided [RCV000966035] Chr17:75737340 [GRCh38]
Chr17:73733421 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000289158] Chr17:75731354 [GRCh38]
Chr17:73727435 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1667G>A (p.Arg556His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000358893]|not provided [RCV000890632] Chr17:75736060 [GRCh38]
Chr17:73732141 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.3729G>A (p.Pro1243=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000395803] Chr17:75751047 [GRCh38]
Chr17:73747128 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396349] Chr17:75756819 [GRCh38]
Chr17:73752900 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4829G>A (p.Arg1610Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396350] Chr17:75756549 [GRCh38]
Chr17:73752630 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000301083]|not provided [RCV000971815] Chr17:75732219 [GRCh38]
Chr17:73728300 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000301340]|not provided [RCV000971068] Chr17:75756708 [GRCh38]
Chr17:73752789 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000377511]|not provided [RCV000891227] Chr17:75754766 [GRCh38]
Chr17:73750847 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.1095G>A (p.Arg365=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000377681]|not provided [RCV000942507] Chr17:75731248 [GRCh38]
Chr17:73727329 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.1413C>T (p.Asn471=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396459] Chr17:75732198 [GRCh38]
Chr17:73728279 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396730] Chr17:75737547 [GRCh38]
Chr17:73733628 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396732] Chr17:75740414 [GRCh38]
Chr17:73736495 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.-23T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000397195] Chr17:75721600 [GRCh38]
Chr17:73717680 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000301781] Chr17:75736059 [GRCh38]
Chr17:73732140 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3809T>C (p.Met1270Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000313814] Chr17:75752189 [GRCh38]
Chr17:73748270 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1805A>T (p.His602Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000328586]|not provided [RCV000906186] Chr17:75736331 [GRCh38]
Chr17:73732412 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.1179G>A (p.Thr393=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000328912] Chr17:75731332 [GRCh38]
Chr17:73727413 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4559-4C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000328672]|not provided [RCV000892418] Chr17:75755697 [GRCh38]
Chr17:73751778 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.3655+10C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000343897] Chr17:75750870 [GRCh38]
Chr17:73746951 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1210G>A (p.Glu404Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000344119] Chr17:75731363 [GRCh38]
Chr17:73727444 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4319-3C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000360558] Chr17:75754573 [GRCh38]
Chr17:73750654 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3232C>G (p.Arg1078Gly) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000379664] Chr17:75748961 [GRCh38]
Chr17:73745042 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1483G>A (p.Gly495Ser) single nucleotide variant not provided [RCV000592372] Chr17:75733518 [GRCh38]
Chr17:73729599 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.887A>C (p.Tyr296Ser) single nucleotide variant not provided [RCV000722594] Chr17:75730389 [GRCh38]
Chr17:73726470 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys) single nucleotide variant not provided [RCV000731249] Chr17:75756554 [GRCh38]
Chr17:73752635 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4642_4645del (p.Trp1548fs) deletion not provided [RCV000732708] Chr17:75755782..75755785 [GRCh38]
Chr17:73751863..73751866 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2763C>A (p.Tyr921Ter) single nucleotide variant not provided [RCV000729213] Chr17:75742470 [GRCh38]
Chr17:73738551 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.755G>T (p.Arg252Leu) single nucleotide variant not specified [RCV000413882] Chr17:75730257 [GRCh38]
Chr17:73726338 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000454275] Chr17:75743736 [GRCh38]
Chr17:73739817 [GRCh37]
Chr17:17q25.1
likely pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_000213.5(ITGB4):c.3977-30_3977-17del deletion not provided [RCV000486557] Chr17:75752416..75752429 [GRCh38]
Chr17:73748497..73748510 [GRCh37]
Chr17:17q25.1
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) single nucleotide variant Deficiency of galactokinase [RCV000672164] Chr17:75757436 [GRCh38]
Chr17:73753517 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1642G>A (p.Gly548Arg) single nucleotide variant not provided [RCV000658794] Chr17:75733677 [GRCh38]
Chr17:73729758 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) deletion Deficiency of galactokinase [RCV000671092] Chr17:75757226..75757230 [GRCh38]
Chr17:73753307..73753311 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5218+2T>C single nucleotide variant Deficiency of galactokinase [RCV000668237]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV001536079] Chr17:75757109 [GRCh38]
Chr17:73753190 [GRCh37]
Chr17:17q25.1
likely pathogenic|uncertain significance
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) deletion Deficiency of galactokinase [RCV000674109] Chr17:75757065..75757086 [GRCh38]
Chr17:73753146..73753167 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3 copy number gain not provided [RCV000683962] Chr17:73414856..74037715 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000213.5(ITGB4):c.4256_4276dup (p.Asp1419_Lys1425dup) duplication not provided [RCV000722447] Chr17:75753910..75753911 [GRCh38]
Chr17:73749991..73749992 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000213.5(ITGB4):c.1455-126C>A single nucleotide variant not provided [RCV001534559] Chr17:75733364 [GRCh38]
Chr17:73729445 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.144C>T (p.Cys48=) single nucleotide variant not provided [RCV000917188] Chr17:75727259 [GRCh38]
Chr17:73723339 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
NM_000213.5(ITGB4):c.4359C>T (p.Gly1453=) single nucleotide variant not provided [RCV000929201] Chr17:75754616 [GRCh38]
Chr17:73750697 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3384C>T (p.Gly1128=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125308]|not provided [RCV000903453] Chr17:75750178 [GRCh38]
Chr17:73746259 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.867C>T (p.His289=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125954]|not provided [RCV000970326] Chr17:75730369 [GRCh38]
Chr17:73726450 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122618]|not provided [RCV000906237] Chr17:75754646 [GRCh38]
Chr17:73750727 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.3609C>T (p.Gly1203=) single nucleotide variant not provided [RCV000926616] Chr17:75750814 [GRCh38]
Chr17:73746895 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=) single nucleotide variant not provided [RCV000926702] Chr17:75752265 [GRCh38]
Chr17:73748346 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=) single nucleotide variant not provided [RCV000883495] Chr17:75756980 [GRCh38]
Chr17:73753061 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1830G>A (p.Thr610=) single nucleotide variant not provided [RCV000926891] Chr17:75736356 [GRCh38]
Chr17:73732437 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3375C>T (p.Gly1125=) single nucleotide variant not provided [RCV000925401] Chr17:75750169 [GRCh38]
Chr17:73746250 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=) single nucleotide variant not provided [RCV000882180] Chr17:75757288 [GRCh38]
Chr17:73753369 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4944G>A (p.Val1648=) single nucleotide variant not provided [RCV000943336] Chr17:75756750 [GRCh38]
Chr17:73752831 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2550+1G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000779230] Chr17:75740462 [GRCh38]
Chr17:73736543 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4708+2_4708+5del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000779231] Chr17:75755851..75755854 [GRCh38]
Chr17:73751932..73751935 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128156]|not provided [RCV000903809] Chr17:75737539 [GRCh38]
Chr17:73733620 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001124984]|not provided [RCV000903911] Chr17:75728402 [GRCh38]
Chr17:73724483 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.2896G>A (p.Asp966Asn) single nucleotide variant not provided [RCV000917600] Chr17:75742695 [GRCh38]
Chr17:73738776 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4671G>C (p.Leu1557=) single nucleotide variant not provided [RCV000939204] Chr17:75755813 [GRCh38]
Chr17:73751894 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122722]|not provided [RCV000968359] Chr17:75757061 [GRCh38]
Chr17:73753142 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.5193C>T (p.Ile1731=) single nucleotide variant not provided [RCV000898669] Chr17:75757082 [GRCh38]
Chr17:73753163 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1884C>T (p.Asp628=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126064]|not provided [RCV000897930] Chr17:75736588 [GRCh38]
Chr17:73732669 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.3288C>T (p.His1096=) single nucleotide variant not provided [RCV000909056] Chr17:75749017 [GRCh38]
Chr17:73745098 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1266C>T (p.His422=) single nucleotide variant not provided [RCV000923194] Chr17:75731862 [GRCh38]
Chr17:73727943 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4093G>A (p.Val1365Ile) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128335]|not provided [RCV000906032] Chr17:75752562 [GRCh38]
Chr17:73748643 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.534C>T (p.Val178=) single nucleotide variant not provided [RCV000928504] Chr17:75728441 [GRCh38]
Chr17:73724522 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1911G>A (p.Ala637=) single nucleotide variant not provided [RCV000927227] Chr17:75736615 [GRCh38]
Chr17:73732696 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4965C>T (p.Asp1655=) single nucleotide variant not provided [RCV000929911] Chr17:75756771 [GRCh38]
Chr17:73752852 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4659C>T (p.Cys1553=) single nucleotide variant not provided [RCV000884643] Chr17:75755801 [GRCh38]
Chr17:73751882 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) single nucleotide variant Deficiency of galactokinase [RCV001083656]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128522]|not provided [RCV000827224] Chr17:75758116 [GRCh38]
Chr17:73754197 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.4854T>C (p.Ile1618=) single nucleotide variant not provided [RCV000980962] Chr17:75756574 [GRCh38]
Chr17:73752655 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3 copy number gain not provided [RCV000848371] Chr17:73596063..73959466 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs) microsatellite not provided [RCV001008069] Chr17:75755775..75755776 [GRCh38]
Chr17:73751856..73751857 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2633+284G>A single nucleotide variant not provided [RCV001571728] Chr17:75741289 [GRCh38]
Chr17:73737370 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.953A>T (p.Asn318Ile) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001250538] Chr17:75730455 [GRCh38]
Chr17:73726536 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001250537] Chr17:75756977 [GRCh38]
Chr17:73753058 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000990061] Chr17:75742633 [GRCh38]
Chr17:73738714 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2609+7C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125201] Chr17:75740858 [GRCh38]
Chr17:73736939 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125202] Chr17:75742345 [GRCh38]
Chr17:73738426 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2670G>A (p.Ala890=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125203] Chr17:75742377 [GRCh38]
Chr17:73738458 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5219-15A>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122723] Chr17:75757185 [GRCh38]
Chr17:73753266 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.754C>A (p.Arg252Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125950] Chr17:75730256 [GRCh38]
Chr17:73726337 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.759G>A (p.Pro253=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125951] Chr17:75730261 [GRCh38]
Chr17:73726342 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2830G>A (p.Val944Ile) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126183] Chr17:75742629 [GRCh38]
Chr17:73738710 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126460] Chr17:75757520 [GRCh38]
Chr17:73753601 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.739-80G>A single nucleotide variant not provided [RCV001576156] Chr17:75730161 [GRCh38]
Chr17:73726242 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4558+202C>T single nucleotide variant not provided [RCV001572025] Chr17:75755017 [GRCh38]
Chr17:73751098 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2963-79T>C single nucleotide variant not provided [RCV001569308] Chr17:75743634 [GRCh38]
Chr17:73739715 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4558+177G>A single nucleotide variant not provided [RCV001560473] Chr17:75754992 [GRCh38]
Chr17:73751073 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4708+142C>T single nucleotide variant not provided [RCV001568488] Chr17:75755992 [GRCh38]
Chr17:73752073 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1215+5G>A single nucleotide variant not provided [RCV001555325] Chr17:75731373 [GRCh38]
Chr17:73727454 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4939C>T (p.Leu1647=) single nucleotide variant not provided [RCV000930844] Chr17:75756745 [GRCh38]
Chr17:73752826 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys) single nucleotide variant not provided [RCV000973951] Chr17:75754746 [GRCh38]
Chr17:73750827 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2922C>T (p.Leu974=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128251]|not provided [RCV000954311] Chr17:75742721 [GRCh38]
Chr17:73738802 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.34C>T (p.Leu12=) single nucleotide variant not provided [RCV000889118] Chr17:75724737 [GRCh38]
Chr17:73720817 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5112G>A (p.Pro1704=) single nucleotide variant not provided [RCV000931720] Chr17:75757001 [GRCh38]
Chr17:73753082 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=) single nucleotide variant not provided [RCV000892195] Chr17:75756738 [GRCh38]
Chr17:73752819 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.312A>G (p.Gln104=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001124982]|not provided [RCV000887509] Chr17:75727698 [GRCh38]
Chr17:73723779 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.387C>T (p.Pro129=) single nucleotide variant not provided [RCV000887510] Chr17:75727773 [GRCh38]
Chr17:73723854 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) single nucleotide variant not provided [RCV000910699] Chr17:75750221 [GRCh38]
Chr17:73746302 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1924G>A (p.Glu642Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126065]|not provided [RCV000886264] Chr17:75736628 [GRCh38]
Chr17:73732709 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.1446C>T (p.Ser482=) single nucleotide variant not provided [RCV000897202] Chr17:75732231 [GRCh38]
Chr17:73728312 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3570C>T (p.Cys1190=) single nucleotide variant not provided [RCV000892942] Chr17:75750775 [GRCh38]
Chr17:73746856 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.999C>T (p.Tyr333=) single nucleotide variant not provided [RCV000909482] Chr17:75730501 [GRCh38]
Chr17:73726582 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1521C>T (p.Gly507=) single nucleotide variant not provided [RCV000909596] Chr17:75733556 [GRCh38]
Chr17:73729637 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123816]|not provided [RCV000909597] Chr17:75757453 [GRCh38]
Chr17:73753534 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.567-10C>T single nucleotide variant not provided [RCV000895343] Chr17:75729255 [GRCh38]
Chr17:73725336 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1674C>T (p.Ser558=) single nucleotide variant not provided [RCV000918509] Chr17:75736067 [GRCh38]
Chr17:73732148 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.309C>A (p.Pro103=) single nucleotide variant not provided [RCV000909638] Chr17:75727695 [GRCh38]
Chr17:73723776 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2328G>A (p.Thr776=) single nucleotide variant not provided [RCV000931502] Chr17:75739953 [GRCh38]
Chr17:73736034 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.162+9C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122208] Chr17:75727286 [GRCh38]
Chr17:73723366 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122300]|not provided [RCV001355124] Chr17:75731941 [GRCh38]
Chr17:73728022 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2067C>T (p.Asp689=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128155] Chr17:75737398 [GRCh38]
Chr17:73733479 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5053+15G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128426] Chr17:75756874 [GRCh38]
Chr17:73752955 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5054-11T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128427] Chr17:75756932 [GRCh38]
Chr17:73753013 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123812] Chr17:75757245 [GRCh38]
Chr17:73753326 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1544G>A (p.Arg515His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125091] Chr17:75733579 [GRCh38]
Chr17:73729660 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.2551-10T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125199] Chr17:75740783 [GRCh38]
Chr17:73736864 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=) single nucleotide variant not provided [RCV000957655] Chr17:75754674 [GRCh38]
Chr17:73750755 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.3501C>T (p.Ser1167=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125311]|not provided [RCV000913290] Chr17:75750706 [GRCh38]
Chr17:73746787 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.2531G>T (p.Arg844Leu) single nucleotide variant not provided [RCV000890259] Chr17:75740442 [GRCh38]
Chr17:73736523 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.537C>T (p.Ser179=) single nucleotide variant not provided [RCV000935853] Chr17:75728444 [GRCh38]
Chr17:73724525 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1281G>A (p.Pro427=) single nucleotide variant not provided [RCV000911699] Chr17:75731877 [GRCh38]
Chr17:73727958 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2962+9G>C single nucleotide variant not provided [RCV000911701] Chr17:75742770 [GRCh38]
Chr17:73738851 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4584C>T (p.Pro1528=) single nucleotide variant not provided [RCV000934073] Chr17:75755726 [GRCh38]
Chr17:73751807 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2070C>T (p.Gly690=) single nucleotide variant not provided [RCV000911700] Chr17:75737401 [GRCh38]
Chr17:73733482 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.1869G>A (p.Pro623=) single nucleotide variant not provided [RCV000935052] Chr17:75736573 [GRCh38]
Chr17:73732654 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4109-35C>G single nucleotide variant not provided [RCV001569731] Chr17:75753730 [GRCh38]
Chr17:73749811 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2551-127G>A single nucleotide variant not provided [RCV001545278] Chr17:75740666 [GRCh38]
Chr17:73736747 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.567-99_567-98insG insertion not provided [RCV001572218] Chr17:75729166..75729167 [GRCh38]
Chr17:73725247..73725248 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3317-304T>C single nucleotide variant not provided [RCV001551513] Chr17:75749807 [GRCh38]
Chr17:73745888 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4558+146_4558+147insAT insertion not provided [RCV001559481] Chr17:75754961..75754962 [GRCh38]
Chr17:73751042..73751043 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4109-265T>C single nucleotide variant not provided [RCV001536435] Chr17:75753500 [GRCh38]
Chr17:73749581 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4532C>A (p.Ser1511Tyr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123706] Chr17:75754789 [GRCh38]
Chr17:73750870 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123815] Chr17:75757295 [GRCh38]
Chr17:73753376 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1113C>T (p.Asp371=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128065] Chr17:75731266 [GRCh38]
Chr17:73727347 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2962+11G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128253] Chr17:75742772 [GRCh38]
Chr17:73738853 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128334] Chr17:75752536 [GRCh38]
Chr17:73748617 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1936C>T (p.Arg646Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126066] Chr17:75736640 [GRCh38]
Chr17:73732721 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126182] Chr17:75742462 [GRCh38]
Chr17:73738543 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3765C>G (p.Val1255=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126282] Chr17:75751083 [GRCh38]
Chr17:73747164 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4708+5G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126376] Chr17:75755855 [GRCh38]
Chr17:73751936 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122620] Chr17:75754697 [GRCh38]
Chr17:73750778 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.*171T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126462] Chr17:75757726 [GRCh38]
Chr17:73753807 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123813] Chr17:75757254 [GRCh38]
Chr17:73753335 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128333] Chr17:75752533 [GRCh38]
Chr17:73748614 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.93G>C (p.Lys31Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122207] Chr17:75727208 [GRCh38]
Chr17:73723288 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2145C>T (p.Ile715=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122424] Chr17:75737569 [GRCh38]
Chr17:73733650 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3112-3C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122524] Chr17:75748838 [GRCh38]
Chr17:73744919 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1461C>T (p.Gly487=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122302] Chr17:75733496 [GRCh38]
Chr17:73729577 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122427] Chr17:75740414 [GRCh38]
Chr17:73736495 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3097G>A (p.Ala1033Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122522] Chr17:75743847 [GRCh38]
Chr17:73739928 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3099G>A (p.Ala1033=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122523] Chr17:75743849 [GRCh38]
Chr17:73739930 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122525] Chr17:75748934 [GRCh38]
Chr17:73745015 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126181] Chr17:75742408 [GRCh38]
Chr17:73738489 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.3794-9C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126283] Chr17:75752165 [GRCh38]
Chr17:73748246 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73735514-73739660) copy number loss Epidermolysis bullosa junctionalis with pyloric atresia [RCV001195150] Chr17:73735514..73739660 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001124983] Chr17:75727732 [GRCh38]
Chr17:73723813 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.595C>A (p.Pro199Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001124985] Chr17:75729293 [GRCh38]
Chr17:73725374 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2578G>A (p.Gly860Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125200] Chr17:75740820 [GRCh38]
Chr17:73736901 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3463A>G (p.Met1155Val) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125310] Chr17:75750257 [GRCh38]
Chr17:73746338 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.852C>T (p.Asn284=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125952] Chr17:75730354 [GRCh38]
Chr17:73726435 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.859C>T (p.Arg287Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125953] Chr17:75730361 [GRCh38]
Chr17:73726442 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3884G>A (p.Arg1295His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126284] Chr17:75752264 [GRCh38]
Chr17:73748345 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4719T>C (p.His1573=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126377] Chr17:75756439 [GRCh38]
Chr17:73752520 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126378] Chr17:75756508 [GRCh38]
Chr17:73752589 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.*3G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126461] Chr17:75757558 [GRCh38]
Chr17:73753639 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4564C>T (p.Arg1522Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123707] Chr17:75755706 [GRCh38]
Chr17:73751787 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123708] Chr17:75755794 [GRCh38]
Chr17:73751875 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.-159A>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122206] Chr17:75721464 [GRCh38]
Chr17:73717544 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.299A>G (p.Gln100Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122209] Chr17:75727685 [GRCh38]
Chr17:73723766 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2241G>A (p.Pro747=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122425] Chr17:75739692 [GRCh38]
Chr17:73735773 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2371C>T (p.Arg791Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122426] Chr17:75739996 [GRCh38]
Chr17:73736077 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122721] Chr17:75756995 [GRCh38]
Chr17:73753076 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2865C>T (p.Asp955=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128249] Chr17:75742664 [GRCh38]
Chr17:73738745 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2918C>A (p.Thr973Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128250] Chr17:75742717 [GRCh38]
Chr17:73738798 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2962+5G>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128252] Chr17:75742766 [GRCh38]
Chr17:73738847 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3977-4G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128332] Chr17:75752442 [GRCh38]
Chr17:73748523 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123814] Chr17:75757294 [GRCh38]
Chr17:73753375 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001124986] Chr17:75729388 [GRCh38]
Chr17:73725469 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3430C>G (p.His1144Asp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001125309] Chr17:75750224 [GRCh38]
Chr17:73746305 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.1428C>T (p.Cys476=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122301] Chr17:75732213 [GRCh38]
Chr17:73728294 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122619] Chr17:75754659 [GRCh38]
Chr17:73750740 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=) single nucleotide variant not provided [RCV001310380] Chr17:75756577 [GRCh38]
Chr17:73752658 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5219-3C>T single nucleotide variant not provided [RCV001310381] Chr17:75757197 [GRCh38]
Chr17:73753278 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352874] Chr17:75730349 [GRCh38]
Chr17:73726430 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352880] Chr17:75743790 [GRCh38]
Chr17:73739871 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.1039G>A (p.Val347Met) single nucleotide variant not provided [RCV001302805] Chr17:75730911 [GRCh38]
Chr17:73726992 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352875] Chr17:75730499 [GRCh38]
Chr17:73726580 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352878] Chr17:75740376 [GRCh38]
Chr17:73736457 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2633+1G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352879] Chr17:75741006 [GRCh38]
Chr17:73737087 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352882] Chr17:75751022..75751040 [GRCh38]
Chr17:73747103..73747121 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4051G>A (p.Asp1351Asn) single nucleotide variant not provided [RCV001340726] Chr17:75752520 [GRCh38]
Chr17:73748601 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4558+381C>T single nucleotide variant not provided [RCV001358125] Chr17:75755196 [GRCh38]
Chr17:73751277 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.472_566+184del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352840] Chr17:75728377..75728655 [GRCh38]
Chr17:73724458..73724736 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352841] Chr17:75729399 [GRCh38]
Chr17:73725480 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352876] Chr17:75731966 [GRCh38]
Chr17:73728047 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352877] Chr17:75737343 [GRCh38]
Chr17:73733424 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001352881] Chr17:75750113..75750123 [GRCh38]
Chr17:73746194..73746204 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.469+5G>A single nucleotide variant not provided [RCV001355619] Chr17:75727860 [GRCh38]
Chr17:73723941 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu) single nucleotide variant not provided [RCV001355966] Chr17:75729297 [GRCh38]
Chr17:73725378 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001527401] Chr17:75755806 [GRCh38]
Chr17:73751887 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.2524C>T (p.Gln842Ter) single nucleotide variant Localized epidermolysis bullosa simplex [RCV001391130] Chr17:75740435 [GRCh38]
Chr17:73736516 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.2255-41G>A single nucleotide variant not provided [RCV001534270] Chr17:75739839 [GRCh38]
Chr17:73735920 [GRCh37]
Chr17:17q25.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6158 AgrOrtholog
COSMIC ITGB4 COSMIC
Ensembl Genes ENSG00000132470 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000200181 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400217 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405536 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000462494 UniProtKB/TrEMBL
  ENSP00000463651 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000463788 UniProtKB/TrEMBL
  ENSP00000464259 UniProtKB/TrEMBL
Ensembl Transcript ENST00000200181 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449880 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450894 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000578318 UniProtKB/TrEMBL
  ENST00000579662 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000582629 UniProtKB/TrEMBL
  ENST00000584939 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.2030 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132470 GTEx
HGNC ID HGNC:6158 ENTREZGENE
Human Proteome Map ITGB4 Human Proteome Map
InterPro CalX-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calx_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_extracell UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_beta_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_tail_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3691 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3691 ENTREZGENE
OMIM 131800 OMIM
  147557 OMIM
  226650 OMIM
  226730 OMIM
PANTHER PTHR10082 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10082:SF42 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calx-beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_B_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI_integrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29957 PharmGKB
PIRSF Integrin_B4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS INTEGRINB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Calx_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_B_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF141072 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69687 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R8K7 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R8N2 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R8T0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZLD5_HUMAN UniProtKB/TrEMBL
  B7ZLD8 ENTREZGENE, UniProtKB/TrEMBL
  ITB4_HUMAN UniProtKB/Swiss-Prot
  J3KSH9_HUMAN UniProtKB/TrEMBL
  J3QQL2_HUMAN UniProtKB/TrEMBL
  J3QRK0_HUMAN UniProtKB/TrEMBL
  P16144 ENTREZGENE
  Q2VP98_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0AVL6 UniProtKB/Swiss-Prot
  O14690 UniProtKB/Swiss-Prot
  O14691 UniProtKB/Swiss-Prot
  O15339 UniProtKB/Swiss-Prot
  O15340 UniProtKB/Swiss-Prot
  O15341 UniProtKB/Swiss-Prot
  Q0VF97 UniProtKB/Swiss-Prot
  Q9UIQ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGB4  integrin subunit beta 4    integrin beta 4  Symbol and/or name change 5135510 APPROVED
2015-11-17 ITGB4  integrin beta 4    integrin, beta 4  Symbol and/or name change 5135510 APPROVED
2011-08-16 ITGB4  integrin, beta 4  ITGB4  integrin, beta 4  Symbol and/or name change 5135510 APPROVED