LAMB3 (laminin subunit beta 3) - Rat Genome Database

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Gene: LAMB3 (laminin subunit beta 3) Homo sapiens
Analyze
Symbol: LAMB3
Name: laminin subunit beta 3
RGD ID: 1344175
HGNC Page HGNC
Description: Predicted to be an extracellular matrix structural constituent. Involved in endodermal cell differentiation. Localizes to collagen-containing extracellular matrix. Implicated in amelogenesis imperfecta type 1A; junctional epidermolysis bullosa; junctional epidermolysis bullosa Herlitz type; junctional epidermolysis bullosa non-Herlitz type; and lung small cell carcinoma. Biomarker of lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AI1A; BM600-125KDA; epiligrin subunit bata; FLJ99565; kalinin B1 chain; kalinin subunit beta; kalinin-140kDa; LAM5; laminin B1k chain; laminin beta 3; laminin S B3 chain; laminin subunit beta-3; laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)); laminin-5 subunit beta; LAMNB1; nicein subunit beta; nicein-125kDa
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 Ensembl1209,614,870 - 209,652,425 (-)EnsemblGRCh38hg38GRCh38
GRCh381209,614,870 - 209,652,467 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371209,788,215 - 209,825,770 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361207,854,838 - 207,892,443 (-)NCBINCBI36hg18NCBI36
Build 341206,176,639 - 206,214,152NCBI
Celera1183,019,124 - 183,056,711 (-)NCBI
Cytogenetic Map1q32.2NCBI
HuRef1180,463,503 - 180,501,095 (-)NCBIHuRef
CHM1_11211,060,621 - 211,098,219 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-dichloroaniline  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
cefaloridine  (ISO)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dichloroacetic acid  (ISO)
diethylstilbestrol  (EXP,ISO)
diuron  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (EXP)
fipronil  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (ISO)
glucose  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
lysophosphatidylcholine  (EXP)
methotrexate  (EXP)
methylseleninic acid  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nickel sulfate  (EXP)
ozone  (EXP)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
prednisolone  (EXP)
progesterone  (EXP)
resveratrol  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
sodium dichromate  (ISO)
sphingosine 1-phosphate  (EXP)
sulforaphane  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triazines  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal blood ion concentration  (IAGP)
Abnormal cornea morphology  (IAGP)
Abnormal fingertip morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Alopecia  (IAGP)
Amelogenesis imperfecta  (IAGP)
Anemia  (IAGP)
Anonychia  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia/Hypoplasia of the bladder  (IAGP)
Atrophic scars  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bradycardia  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Congenital localized absence of skin  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Death in infancy  (IAGP)
Dehydration  (IAGP)
Dilated cardiomyopathy  (IAGP)
Duplicated collecting system  (IAGP)
Dysuria  (IAGP)
Edema  (IAGP)
Erosion of oral mucosa  (IAGP)
Esophageal stricture  (IAGP)
Failure to thrive  (IAGP)
Fragile nails  (IAGP)
Fragile skin  (IAGP)
Gastrointestinal inflammation  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized microdontia  (IAGP)
Growth delay  (IAGP)
Heterogeneous  (IAGP)
Hoarse cry  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Hypoplastic dermoepidermal hemidesmosomes  (IAGP)
Junctional split  (IAGP)
Laryngeal stenosis  (IAGP)
Malnutrition  (IAGP)
Milia  (IAGP)
Mitten deformity  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Oral mucosal blisters  (IAGP)
Osteoporosis  (IAGP)
Palmar hyperhidrosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Parathyroid carcinoma  (IAGP)
Paronychia  (IAGP)
Plantar hyperkeratosis  (IAGP)
Pneumonia  (IAGP)
Pneumothorax  (IAGP)
Pyloric stenosis  (IAGP)
Pyoderma  (IAGP)
Recurrent urinary tract infections  (IAGP)
Renal tubular epithelial necrosis  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Scarring alopecia of scalp  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Skin erosion  (IAGP)
Skin plaque  (IAGP)
Sparse body hair  (IAGP)
Squamous cell carcinoma  (IAGP)
Stridor  (IAGP)
Taurodontia  (IAGP)
Unexplained fevers  (IAGP)
Ureteral obstruction  (IAGP)
Ureterocele  (IAGP)
Urethral stricture  (IAGP)
Urinary retention  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:7512558   PMID:7550237   PMID:7550320   PMID:7706760   PMID:7774918   PMID:7775432   PMID:8088808   PMID:8530036   PMID:8824879   PMID:9205497   PMID:9242513   PMID:9457915  
PMID:9501007   PMID:9579554   PMID:9767254   PMID:9840442   PMID:9856855   PMID:9989793   PMID:10577906   PMID:10637308   PMID:10806203   PMID:10811835   PMID:11296269   PMID:11311202  
PMID:11689492   PMID:11867230   PMID:12477932   PMID:12482924   PMID:12802069   PMID:12875969   PMID:14612440   PMID:15146197   PMID:15149852   PMID:15331737   PMID:15342556   PMID:15363037  
PMID:15370542   PMID:15373767   PMID:15489334   PMID:15538630   PMID:15854126   PMID:16147969   PMID:16179086   PMID:16537560   PMID:16710414   PMID:16757171   PMID:16870608   PMID:17137774  
PMID:17170699   PMID:17476356   PMID:17482449   PMID:18284540   PMID:18331784   PMID:18387282   PMID:18603785   PMID:19275936   PMID:19383890   PMID:19700013   PMID:19701966   PMID:19940114  
PMID:20163849   PMID:20301304   PMID:20301481   PMID:21034821   PMID:21345334   PMID:21873635   PMID:22563463   PMID:22673183   PMID:22898004   PMID:23154389   PMID:23278291   PMID:23441154  
PMID:23632796   PMID:23769655   PMID:23958762   PMID:24494736   PMID:24667918   PMID:24742657   PMID:24978847   PMID:25032755   PMID:25037231   PMID:25708563   PMID:25754235   PMID:25769099  
PMID:25867809   PMID:26496610   PMID:26618866   PMID:26871637   PMID:26949251   PMID:27062385   PMID:27375110   PMID:27431458   PMID:27480391   PMID:27576135   PMID:27698189   PMID:27863864  
PMID:28653739   PMID:29180619   PMID:29426928   PMID:29555367   PMID:29676528   PMID:29900604   PMID:29946029   PMID:29987050   PMID:30120606   PMID:30122422   PMID:30125583   PMID:30414703  
PMID:30850586   PMID:30887508   PMID:30905256   PMID:31101337   PMID:31586073   PMID:32008745   PMID:32412777   PMID:32572027   PMID:32790894   PMID:33179081  


Genomics

Comparative Map Data
LAMB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1209,614,870 - 209,652,425 (-)EnsemblGRCh38hg38GRCh38
GRCh381209,614,870 - 209,652,467 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371209,788,215 - 209,825,770 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361207,854,838 - 207,892,443 (-)NCBINCBI36hg18NCBI36
Build 341206,176,639 - 206,214,152NCBI
Celera1183,019,124 - 183,056,711 (-)NCBI
Cytogenetic Map1q32.2NCBI
HuRef1180,463,503 - 180,501,095 (-)NCBIHuRef
CHM1_11211,060,621 - 211,098,219 (-)NCBICHM1_1
Lamb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391192,976,661 - 193,026,186 (+)NCBIGRCm39mm39
GRCm39 Ensembl1192,890,007 - 193,026,186 (+)Ensembl
GRCm381193,294,353 - 193,343,878 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1193,207,699 - 193,343,878 (+)EnsemblGRCm38mm10GRCm38
MGSCv371195,128,188 - 195,170,072 (+)NCBIGRCm37mm9NCBIm37
MGSCv361195,002,753 - 195,044,602 (+)NCBImm8
Celera1200,179,164 - 200,221,182 (+)NCBICelera
Cytogenetic Map1H6NCBI
cM Map197.71NCBI
Lamb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.213104,833,810 - 104,875,405 (+)NCBI
Rnor_6.0 Ensembl13112,031,594 - 112,073,186 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.013112,031,614 - 112,073,187 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013116,587,097 - 116,628,803 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413109,148,815 - 109,190,322 (+)NCBIRGSC3.4rn4RGSC3.4
Celera13104,263,258 - 104,304,743 (+)NCBICelera
Cytogenetic Map13q27NCBI
Lamb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554892,568,650 - 2,607,595 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554892,547,611 - 2,603,079 (+)NCBIChiLan1.0ChiLan1.0
LAMB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11189,996,634 - 190,034,206 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1189,996,639 - 190,034,206 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01185,191,401 - 185,245,154 (-)NCBIMhudiblu_PPA_v0panPan3
LAMB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.178,272,326 - 8,313,322 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl78,272,736 - 8,310,474 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha77,849,692 - 7,976,332 (-)NCBI
ROS_Cfam_1.077,973,087 - 8,099,489 (-)NCBI
UMICH_Zoey_3.177,902,916 - 8,029,231 (-)NCBI
UNSW_CanFamBas_1.078,000,050 - 8,126,276 (-)NCBI
UU_Cfam_GSD_1.078,060,953 - 8,187,735 (-)NCBI
Lamb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934466,190,090 - 66,247,713 (+)NCBI
SpeTri2.0NW_0049365573,429,488 - 3,487,995 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9133,311,834 - 133,351,197 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19133,298,009 - 133,351,162 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29146,594,591 - 146,598,263 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAMB3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12519,805,234 - 19,856,025 (+)NCBI
ChlSab1.1 Ensembl2519,807,045 - 19,846,684 (+)Ensembl
Vero_WHO_p1.0NW_02366605520,402,855 - 20,458,028 (+)NCBI
Lamb3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248072,320,168 - 2,378,349 (+)NCBI

Position Markers
D1S1735E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,788,355 - 209,788,438UniSTSGRCh37
Build 361207,854,978 - 207,855,061RGDNCBI36
Celera1183,019,264 - 183,019,347RGD
Cytogenetic Map1q32UniSTS
HuRef1180,463,643 - 180,463,726UniSTS
GDB:574129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,798,910 - 209,799,224UniSTSGRCh37
Build 361207,865,533 - 207,865,847RGDNCBI36
Celera1183,029,812 - 183,030,126RGD
Cytogenetic Map1q32UniSTS
HuRef1180,474,195 - 180,474,509UniSTS
PMC310500P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,811,856 - 209,811,998UniSTSGRCh37
Build 361207,878,479 - 207,878,621RGDNCBI36
Celera1183,042,754 - 183,042,896RGD
Cytogenetic Map1q32UniSTS
HuRef1180,487,133 - 180,487,275UniSTS
PMC310500P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,796,282 - 209,796,407UniSTSGRCh37
Build 361207,862,905 - 207,863,030RGDNCBI36
Celera1183,027,192 - 183,027,317RGD
Cytogenetic Map1q32UniSTS
HuRef1180,471,571 - 180,471,696UniSTS
PMC310500P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,803,883 - 209,804,078UniSTSGRCh37
Build 361207,870,506 - 207,870,701RGDNCBI36
Celera1183,034,785 - 183,034,980RGD
Cytogenetic Map1q32UniSTS
HuRef1180,479,168 - 180,479,363UniSTS
RH68249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,788,354 - 209,788,519UniSTSGRCh37
Build 361207,854,977 - 207,855,142RGDNCBI36
Celera1183,019,263 - 183,019,428RGD
Cytogenetic Map1q32UniSTS
HuRef1180,463,642 - 180,463,807UniSTS
GeneMap99-GB4 RH Map1691.06UniSTS
NCBI RH Map11870.1UniSTS
LAMB3__4002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,788,125 - 209,788,696UniSTSGRCh37
Build 361207,854,748 - 207,855,319RGDNCBI36
Celera1183,019,034 - 183,019,605RGD
HuRef1180,463,413 - 180,463,984UniSTS
RH48497  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q32UniSTS
GeneMap99-GB4 RH Map1693.19UniSTS
NCBI RH Map11804.7UniSTS
G60380  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q32UniSTS
HuRef1180,463,614 - 180,463,807UniSTS
TNG Radiation Hybrid Map1103162.0UniSTS
WI-7944  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q32UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pMirtarbaseexternal_infoqRT-PCR//Western blot//Northern blot//Luciferase rFunctional MTI17998940
MIR218-2hsa-miR-218-5pOncomiRDBexternal_infoNANA23159910

Predicted Target Of
Summary Value
Count of predictions:1178
Count of miRNA genes:552
Interacting mature miRNAs:637
Transcripts:ENST00000356082, ENST00000367030, ENST00000391911, ENST00000415782, ENST00000455193
Prediction methods: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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 2 1 1 2 7 11 2
Medium 771 59 307 242 173 85 1742 47 76 134 581 809 167 428 727 2
Low 898 2513 1364 368 1351 366 2300 1270 3388 271 745 724 3 766 1798 1 1
Below cutoff 759 411 48 11 335 12 311 873 245 14 116 57 10 263 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001017402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH006683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL555685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY035783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP350980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX345166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN414822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D37766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356082   ⟹   ENSP00000348384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1209,614,870 - 209,652,425 (-)Ensembl
RefSeq Acc Id: ENST00000367030   ⟹   ENSP00000355997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1209,614,977 - 209,652,329 (-)Ensembl
RefSeq Acc Id: ENST00000391911   ⟹   ENSP00000375778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1209,614,875 - 209,651,334 (-)Ensembl
RefSeq Acc Id: ENST00000415782   ⟹   ENSP00000388960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1209,634,447 - 209,651,394 (-)Ensembl
RefSeq Acc Id: ENST00000455193   ⟹   ENSP00000398683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1209,616,581 - 209,618,798 (-)Ensembl
RefSeq Acc Id: NM_000228   ⟹   NP_000219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,614,870 - 209,652,425 (-)NCBI
GRCh371209,788,215 - 209,825,820 (-)ENTREZGENE
Build 361207,854,838 - 207,892,443 (-)NCBI Archive
HuRef1180,463,503 - 180,501,095 (-)ENTREZGENE
CHM1_11211,060,621 - 211,098,219 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001017402   ⟹   NP_001017402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,614,870 - 209,651,374 (-)NCBI
GRCh371209,788,215 - 209,825,820 (-)ENTREZGENE
Build 361207,854,838 - 207,891,302 (-)NCBI Archive
HuRef1180,463,503 - 180,501,095 (-)ENTREZGENE
CHM1_11211,060,621 - 211,097,078 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127641   ⟹   NP_001121113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,614,870 - 209,652,329 (-)NCBI
GRCh371209,788,215 - 209,825,820 (-)ENTREZGENE
HuRef1180,463,503 - 180,501,095 (-)ENTREZGENE
CHM1_11211,060,621 - 211,098,073 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005273124   ⟹   XP_005273181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,614,870 - 209,651,376 (-)NCBI
GRCh371209,788,215 - 209,825,820 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001272   ⟹   XP_016856761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,614,870 - 209,652,467 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000219   ⟸   NM_000228
- Peptide Label: precursor
- UniProtKB: Q13751 (UniProtKB/Swiss-Prot),   A0A0S2Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121113   ⟸   NM_001127641
- Peptide Label: precursor
- UniProtKB: Q13751 (UniProtKB/Swiss-Prot),   A0A0S2Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001017402   ⟸   NM_001017402
- Peptide Label: precursor
- UniProtKB: Q13751 (UniProtKB/Swiss-Prot),   A0A0S2Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273181   ⟸   XM_005273124
- Peptide Label: isoform X1
- UniProtKB: Q13751 (UniProtKB/Swiss-Prot),   A0A0S2Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856761   ⟸   XM_017001272
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000388960   ⟸   ENST00000415782
RefSeq Acc Id: ENSP00000398683   ⟸   ENST00000455193
RefSeq Acc Id: ENSP00000375778   ⟸   ENST00000391911
RefSeq Acc Id: ENSP00000355997   ⟸   ENST00000367030
RefSeq Acc Id: ENSP00000348384   ⟸   ENST00000356082
Promoters
RGD ID:6785903
Promoter ID:HG_KWN:7162
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_001017402,   OTTHUMT00000088727
Position:
Human AssemblyChrPosition (strand)Source
Build 361207,891,109 - 207,891,609 (-)MPROMDB
RGD ID:6785904
Promoter ID:HG_KWN:7163
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_000228,   NM_001127641,   UC009XCP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361207,892,211 - 207,892,711 (-)MPROMDB
RGD ID:6858854
Promoter ID:EPDNEW_H2592
Type:initiation region
Name:LAMB3_2
Description:laminin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2593  EPDNEW_H2594  EPDNEW_H2595  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,651,372 - 209,651,432EPDNEW
RGD ID:6858856
Promoter ID:EPDNEW_H2593
Type:initiation region
Name:LAMB3_1
Description:laminin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2592  EPDNEW_H2594  EPDNEW_H2595  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,652,425 - 209,652,485EPDNEW
RGD ID:6858858
Promoter ID:EPDNEW_H2594
Type:initiation region
Name:LAMB3_3
Description:laminin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2592  EPDNEW_H2593  EPDNEW_H2595  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,653,066 - 209,653,126EPDNEW
RGD ID:6858860
Promoter ID:EPDNEW_H2595
Type:initiation region
Name:LAMB3_4
Description:laminin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2592  EPDNEW_H2593  EPDNEW_H2594  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,654,034 - 209,654,094EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV001336739]|Junctional epidermolysis bullosa [RCV001201255]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000020223]|not provided [RCV000578876] Chr1:209632678 [GRCh38]
Chr1:209806023 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.2(LAMB3):c.957_958ins77 (p.?) insertion Junctional epidermolysis bullosa gravis of Herlitz [RCV000020224] Chr1:209629911..209629912 [GRCh38]
Chr1:209803256..209803257 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2709C>T (p.Asp903=) single nucleotide variant not provided [RCV001394552] Chr1:209618652 [GRCh38]
Chr1:209791997 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV000762876]|Junctional epidermolysis bullosa [RCV000778963]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000015638]|Junctional epidermolysis bullosa, non-Herlitz type [RCV000015639]|not provided [RCV000255105] Chr1:209625721 [GRCh38]
Chr1:209799066 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV000762879]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000015641]|Junctional epidermolysis bullosa, non-Herlitz type [RCV001193779]|not provided [RCV000261136] Chr1:209650023 [GRCh38]
Chr1:209823368 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.904del (p.Trp302fs) deletion Junctional epidermolysis bullosa, non-Herlitz type [RCV000015643] Chr1:209630654 [GRCh38]
Chr1:209803999 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) single nucleotide variant Junctional epidermolysis bullosa, non-Herlitz type [RCV000015644] Chr1:209633070 [GRCh38]
Chr1:209806415 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000015645] Chr1:209634515 [GRCh38]
Chr1:209807860 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000015646] Chr1:209625794 [GRCh38]
Chr1:209799139 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000015647] Chr1:209618555 [GRCh38]
Chr1:209791900 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) deletion Junctional epidermolysis bullosa, non-Herlitz type [RCV000015648] Chr1:209627425..209627429 [GRCh38]
Chr1:209800770..209800774 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000015649] Chr1:209626876..209626877 [GRCh38]
Chr1:209800221..209800222 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.628+42G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000675171]|Junctional epidermolysis bullosa, non-Herlitz type [RCV000015650] Chr1:209633028 [GRCh38]
Chr1:209806373 [GRCh37]
Chr1:1q32.2
pathogenic|likely benign|other
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000675069]|Junctional epidermolysis bullosa, non-Herlitz type [RCV000015651] Chr1:209633102 [GRCh38]
Chr1:209806447 [GRCh37]
Chr1:1q32.2
pathogenic|uncertain significance|other
NM_000228.3(LAMB3):c.565-3T>C single nucleotide variant Junctional epidermolysis bullosa, non-Herlitz type [RCV000015652] Chr1:209633136 [GRCh38]
Chr1:209806481 [GRCh37]
Chr1:1q32.2
pathogenic|other
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln) single nucleotide variant Junctional epidermolysis bullosa, non-Herlitz type [RCV000015653] Chr1:209633079 [GRCh38]
Chr1:209806424 [GRCh37]
Chr1:1q32.2
pathogenic|other
NM_000228.3(LAMB3):c.629-1G>A single nucleotide variant Junctional epidermolysis bullosa, non-Herlitz type [RCV000015654] Chr1:209632777 [GRCh38]
Chr1:209806122 [GRCh37]
Chr1:1q32.2
pathogenic|other
NM_000228.3(LAMB3):c.2271AGG[3] (p.Gly761del) microsatellite not provided [RCV000722293] Chr1:209623581..209623583 [GRCh38]
Chr1:209796926..209796928 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.372+10C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000304902]|not provided [RCV000958868] Chr1:209637898 [GRCh38]
Chr1:209811243 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.3383-1G>A single nucleotide variant Amelogenesis imperfecta, type IA [RCV000519434] Chr1:209615408 [GRCh38]
Chr1:209788753 [GRCh37]
Chr1:1q32.2
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_000228.3(LAMB3):c.2694C>T (p.Phe898=) single nucleotide variant not provided [RCV000975625] Chr1:209622543 [GRCh38]
Chr1:209795888 [GRCh37]
Chr1:207862511 [NCBI36]
Chr1:1q32.2
likely benign|not provided
NM_000228.2(LAMB3):c.2640G>A (p.Gln880=) single nucleotide variant Malignant melanoma [RCV000064504] Chr1:209622597 [GRCh38]
Chr1:209795942 [GRCh37]
Chr1:207862565 [NCBI36]
Chr1:1q32.2
not provided
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000673331] Chr1:209628173 [GRCh38]
Chr1:209801518 [GRCh37]
Chr1:207868141 [NCBI36]
Chr1:1q32.2
uncertain significance|not provided
NM_000228.2(LAMB3):c.2432G>A (p.Gly811Asp) single nucleotide variant Malignant melanoma [RCV000060072] Chr1:209623106 [GRCh38]
Chr1:209796451 [GRCh37]
Chr1:207863074 [NCBI36]
Chr1:1q32.2
not provided
NM_000228.2(LAMB3):c.2013G>A (p.Leu671=) single nucleotide variant Malignant melanoma [RCV000060073] Chr1:209623964 [GRCh38]
Chr1:209797309 [GRCh37]
Chr1:207863932 [NCBI36]
Chr1:1q32.2
not provided
NM_000228.3(LAMB3):c.1312T>A (p.Ser438Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000363400] Chr1:209627556 [GRCh38]
Chr1:209800901 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.1977-1G>A single nucleotide variant not provided [RCV000171166] Chr1:209624001 [GRCh38]
Chr1:209797346 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1792C>T (p.Arg598Cys) single nucleotide variant not specified [RCV000202766] Chr1:209625832 [GRCh38]
Chr1:209799177 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh38/hg38 1q32.2-32.3(chr1:208063461-211907812)x1 copy number loss See cases [RCV000138122] Chr1:208063461..211907812 [GRCh38]
Chr1:208236806..212081154 [GRCh37]
Chr1:206303429..210147777 [NCBI36]
Chr1:1q32.2-32.3
likely benign
GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1 copy number loss See cases [RCV000139025] Chr1:207583527..210159181 [GRCh38]
Chr1:207756872..210332526 [GRCh37]
Chr1:205823495..208399149 [NCBI36]
Chr1:1q32.2
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) deletion Amelogenesis imperfecta, type IA [RCV000157635] Chr1:209615337..209615344 [GRCh38]
Chr1:209788682..209788689 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) duplication Amelogenesis imperfecta, type IA [RCV000157637] Chr1:209615395..209615396 [GRCh38]
Chr1:209788740..209788741 [GRCh37]
Chr1:1q32.2
pathogenic|not provided
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV000157636] Chr1:209615359 [GRCh38]
Chr1:209788704 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.29-2A>G single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000169049]|not provided [RCV001064232] Chr1:209650120 [GRCh38]
Chr1:209823465 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000169086]|not provided [RCV000254699] Chr1:209625919 [GRCh38]
Chr1:209799264 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.565-2A>G single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000169196]|not provided [RCV000812274] Chr1:209633135 [GRCh38]
Chr1:209806480 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000169311]|not provided [RCV000818902] Chr1:209634547..209634548 [GRCh38]
Chr1:209807892..209807893 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000169387]|Junctional epidermolysis bullosa, non-Herlitz type [RCV000586480]|not provided [RCV001222091] Chr1:209627502..209627503 [GRCh38]
Chr1:209800847..209800848 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000169424]|not provided [RCV000579120] Chr1:209623999 [GRCh38]
Chr1:209797344 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) single nucleotide variant Autistic disorder of childhood onset [RCV000186216] Chr1:209650014 [GRCh38]
Chr1:209823359 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.867T>C (p.Asn289=) single nucleotide variant Junctional epidermolysis bullosa [RCV000407025]|not provided [RCV000905953] Chr1:209630691 [GRCh38]
Chr1:209804036 [GRCh37]
Chr1:1q32.2
benign|likely benign|uncertain significance
NM_000228.3(LAMB3):c.927C>T (p.Asp309=) single nucleotide variant Junctional epidermolysis bullosa [RCV000407169]|not provided [RCV000902468] Chr1:209630631 [GRCh38]
Chr1:209803976 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.3151C>T (p.Arg1051Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV000408061] Chr1:209617487 [GRCh38]
Chr1:209790832 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.582G>T (p.Met194Ile) single nucleotide variant Junctional epidermolysis bullosa [RCV000385628] Chr1:209633116 [GRCh38]
Chr1:209806461 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_000228.3(LAMB3):c.564+10G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000389664] Chr1:209634437 [GRCh38]
Chr1:209807782 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV000392295]|not provided [RCV000969148] Chr1:209622996 [GRCh38]
Chr1:209796341 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.2564C>G (p.Ala855Gly) single nucleotide variant Junctional epidermolysis bullosa [RCV000392342] Chr1:209622673 [GRCh38]
Chr1:209796018 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.271C>A (p.Pro91Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000392415] Chr1:209638561 [GRCh38]
Chr1:209811906 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1615C>T (p.Arg539Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV000392698] Chr1:209626009 [GRCh38]
Chr1:209799354 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV000392704] Chr1:209626899 [GRCh38]
Chr1:209800244 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3211G>A (p.Ala1071Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000399102] Chr1:209617427 [GRCh38]
Chr1:209790772 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.978del (p.Phe327fs) deletion Junctional epidermolysis bullosa [RCV000399329]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000409820] Chr1:209629891 [GRCh38]
Chr1:209803236 [GRCh37]
Chr1:1q32.2
likely pathogenic|uncertain significance
NM_000228.3(LAMB3):c.541A>G (p.Asn181Asp) single nucleotide variant Junctional epidermolysis bullosa [RCV000401058] Chr1:209634470 [GRCh38]
Chr1:209807815 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000402851] Chr1:209617942 [GRCh38]
Chr1:209791287 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2556+13G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000302727] Chr1:209622969 [GRCh38]
Chr1:209796314 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.3204C>T (p.Ser1068=) single nucleotide variant Junctional epidermolysis bullosa [RCV000295758] Chr1:209617434 [GRCh38]
Chr1:209790779 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2702-14G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000295972] Chr1:209618673 [GRCh38]
Chr1:209792018 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.858C>T (p.Ala286=) single nucleotide variant Junctional epidermolysis bullosa [RCV000303233]|not provided [RCV000898184] Chr1:209630700 [GRCh38]
Chr1:209804045 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.2496G>A (p.Ala832=) single nucleotide variant Junctional epidermolysis bullosa [RCV000296986] Chr1:209623042 [GRCh38]
Chr1:209796387 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000294349]|not provided [RCV000892333] Chr1:209650080 [GRCh38]
Chr1:209823425 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.267C>T (p.Ser89=) single nucleotide variant Junctional epidermolysis bullosa [RCV000298947]|not provided [RCV000896826] Chr1:209638565 [GRCh38]
Chr1:209811910 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.2419C>A (p.Pro807Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000300658] Chr1:209623119 [GRCh38]
Chr1:209796464 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=) single nucleotide variant Junctional epidermolysis bullosa [RCV000283420] Chr1:209625860 [GRCh38]
Chr1:209799205 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2873G>A (p.Arg958His) single nucleotide variant Junctional epidermolysis bullosa [RCV000260993] Chr1:209618488 [GRCh38]
Chr1:209791833 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2447C>T (p.Ser816Phe) single nucleotide variant Junctional epidermolysis bullosa [RCV000261918] Chr1:209623091 [GRCh38]
Chr1:209796436 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.689G>C (p.Arg230Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000261990]|not provided [RCV000955853] Chr1:209632716 [GRCh38]
Chr1:209806061 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
NM_000228.3(LAMB3):c.2359-15G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000276557] Chr1:209623194 [GRCh38]
Chr1:209796539 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) single nucleotide variant Junctional epidermolysis bullosa [RCV000276955]|not provided [RCV000955278]|not specified [RCV001251314] Chr1:209627429 [GRCh38]
Chr1:209800774 [GRCh37]
Chr1:1q32.2
benign|likely benign|uncertain significance
NM_000228.3(LAMB3):c.1667G>A (p.Arg556His) single nucleotide variant Junctional epidermolysis bullosa [RCV000287198]|not provided [RCV000948239] Chr1:209625957 [GRCh38]
Chr1:209799302 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV000278862]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000664565]|not provided [RCV000900424] Chr1:209629779 [GRCh38]
Chr1:209803124 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.557G>A (p.Gly186Glu) single nucleotide variant Junctional epidermolysis bullosa [RCV000288295] Chr1:209634454 [GRCh38]
Chr1:209807799 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2646G>A (p.Glu882=) single nucleotide variant Junctional epidermolysis bullosa [RCV000290229]|not provided [RCV000930519] Chr1:209622591 [GRCh38]
Chr1:209795936 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.813C>T (p.Thr271=) single nucleotide variant Junctional epidermolysis bullosa [RCV000267550] Chr1:209632592 [GRCh38]
Chr1:209805937 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.388G>T (p.Gly130Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000291610] Chr1:209634623 [GRCh38]
Chr1:209807968 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His) single nucleotide variant Junctional epidermolysis bullosa [RCV000282236] Chr1:209629854 [GRCh38]
Chr1:209803199 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser) single nucleotide variant Junctional epidermolysis bullosa [RCV000270485] Chr1:209623908 [GRCh38]
Chr1:209797253 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1267G>A (p.Ala423Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000271976] Chr1:209628056 [GRCh38]
Chr1:209801401 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1670C>T (p.Pro557Leu) single nucleotide variant Junctional epidermolysis bullosa [RCV000379413] Chr1:209625954 [GRCh38]
Chr1:209799299 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=) single nucleotide variant Junctional epidermolysis bullosa [RCV000380669]|not specified [RCV001251313] Chr1:209615342 [GRCh38]
Chr1:209788687 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) single nucleotide variant Junctional epidermolysis bullosa [RCV000381457] Chr1:209623853 [GRCh38]
Chr1:209797198 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.3068G>A (p.Arg1023Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV000365805] Chr1:209617570 [GRCh38]
Chr1:209790915 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1807C>T (p.Arg603Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000384836] Chr1:209625817 [GRCh38]
Chr1:209799162 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met) single nucleotide variant Junctional epidermolysis bullosa [RCV000368767] Chr1:209623141 [GRCh38]
Chr1:209796486 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1536C>T (p.Ser512=) single nucleotide variant Junctional epidermolysis bullosa [RCV000369104] Chr1:209626928 [GRCh38]
Chr1:209800273 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1016A>G (p.Tyr339Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000374318] Chr1:209629853 [GRCh38]
Chr1:209803198 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1132+5G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000778964]|not provided [RCV000255633] Chr1:209629732 [GRCh38]
Chr1:209803077 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000588290]|not provided [RCV000318696] Chr1:209629834..209629835 [GRCh38]
Chr1:209803179..209803180 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2831A>G (p.Asn944Ser) single nucleotide variant Junctional epidermolysis bullosa [RCV000318642] Chr1:209618530 [GRCh38]
Chr1:209791875 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.671T>C (p.Leu224Pro) single nucleotide variant Junctional epidermolysis bullosa [RCV000319455] Chr1:209632734 [GRCh38]
Chr1:209806079 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2615C>A (p.Thr872Asn) single nucleotide variant Junctional epidermolysis bullosa [RCV000347557] Chr1:209622622 [GRCh38]
Chr1:209795967 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) single nucleotide variant Junctional epidermolysis bullosa [RCV000329333]|not provided [RCV000892047]|not specified [RCV000363394] Chr1:209628135 [GRCh38]
Chr1:209801480 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile) single nucleotide variant Junctional epidermolysis bullosa [RCV000331258]|not provided [RCV000884973] Chr1:209618638 [GRCh38]
Chr1:209791983 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.2933G>C (p.Gly978Ala) single nucleotide variant Junctional epidermolysis bullosa [RCV000324569]|not provided [RCV000950619] Chr1:209618025 [GRCh38]
Chr1:209791370 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.3124C>T (p.Arg1042Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV000306429]|not provided [RCV000903505] Chr1:209617514 [GRCh38]
Chr1:209790859 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.1413G>A (p.Lys471=) single nucleotide variant Junctional epidermolysis bullosa [RCV000306338]|not provided [RCV000903506] Chr1:209627455 [GRCh38]
Chr1:209800800 [GRCh37]
Chr1:1q32.2
benign|likely benign|uncertain significance
NM_000228.3(LAMB3):c.1546A>G (p.Ile516Val) single nucleotide variant Junctional epidermolysis bullosa [RCV000312125] Chr1:209626918 [GRCh38]
Chr1:209800263 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) single nucleotide variant Junctional epidermolysis bullosa [RCV000336074]|not provided [RCV000895334] Chr1:209629818 [GRCh38]
Chr1:209803163 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.2157C>T (p.Ser719=) single nucleotide variant Junctional epidermolysis bullosa [RCV000333879] Chr1:209623706 [GRCh38]
Chr1:209797051 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1666C>T (p.Arg556Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000335162] Chr1:209625958 [GRCh38]
Chr1:209799303 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1868G>A (p.Arg623Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV000327856] Chr1:209625756 [GRCh38]
Chr1:209799101 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.777C>T (p.Cys259=) single nucleotide variant Junctional epidermolysis bullosa [RCV000315681]|not provided [RCV000918338] Chr1:209632628 [GRCh38]
Chr1:209805973 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.3404G>A (p.Arg1135Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV000317847] Chr1:209615386 [GRCh38]
Chr1:209788731 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.911C>T (p.Pro304Leu) single nucleotide variant Junctional epidermolysis bullosa [RCV000309090] Chr1:209630647 [GRCh38]
Chr1:209803992 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.823-1G>T single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000669255]|not provided [RCV001053592] Chr1:209630736 [GRCh38]
Chr1:209804081 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000669859] Chr1:209630690 [GRCh38]
Chr1:209804035 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.547C>T (p.Arg183Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV000345567] Chr1:209634464 [GRCh38]
Chr1:209807809 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.773G>A (p.Arg258His) single nucleotide variant Junctional epidermolysis bullosa [RCV000354178] Chr1:209632632 [GRCh38]
Chr1:209805977 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2473G>A (p.Ala825Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV000354237] Chr1:209623065 [GRCh38]
Chr1:209796410 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1008G>A (p.Gln336=) single nucleotide variant Junctional epidermolysis bullosa [RCV000348952]|not provided [RCV000913042] Chr1:209629861 [GRCh38]
Chr1:209803206 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg) single nucleotide variant Junctional epidermolysis bullosa [RCV000321360]|not provided [RCV000957522] Chr1:209615311 [GRCh38]
Chr1:209788656 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
NM_000228.2(LAMB3):c.-110G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000281293] Chr1:209652441 [GRCh38]
Chr1:209825786 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2702-12dup duplication Junctional epidermolysis bullosa [RCV000388135]|not provided [RCV000589851]|not specified [RCV000253478] Chr1:209618670..209618671 [GRCh38]
Chr1:209792015..209792016 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.*392C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000269377] Chr1:209614879 [GRCh38]
Chr1:209788224 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1149G>A (p.Pro383=) single nucleotide variant Junctional epidermolysis bullosa [RCV000376933]|not specified [RCV000244552] Chr1:209628174 [GRCh38]
Chr1:209801519 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1258C>G (p.Leu420Val) single nucleotide variant not specified [RCV000249479] Chr1:209628065 [GRCh38]
Chr1:209801410 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) single nucleotide variant Junctional epidermolysis bullosa [RCV000381931]|not specified [RCV000254480] Chr1:209650009 [GRCh38]
Chr1:209823354 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.298+50T>A single nucleotide variant not specified [RCV000242438] Chr1:209638484 [GRCh38]
Chr1:209811829 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) single nucleotide variant not provided [RCV000955854]|not specified [RCV000247413] Chr1:209637948 [GRCh38]
Chr1:209811293 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) single nucleotide variant Junctional epidermolysis bullosa [RCV000339606]|not specified [RCV000242747] Chr1:209634627 [GRCh38]
Chr1:209807972 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) single nucleotide variant Junctional epidermolysis bullosa [RCV000359939]|not specified [RCV000245176] Chr1:209622984 [GRCh38]
Chr1:209796329 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.822+33G>C single nucleotide variant not specified [RCV000247734] Chr1:209632550 [GRCh38]
Chr1:209805895 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=) single nucleotide variant Junctional epidermolysis bullosa [RCV000402190]|not specified [RCV000250142] Chr1:209622564 [GRCh38]
Chr1:209795909 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.823-15C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000359844]|not specified [RCV000252690] Chr1:209630750 [GRCh38]
Chr1:209804095 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp) single nucleotide variant Junctional epidermolysis bullosa [RCV000292603]|not specified [RCV000245502] Chr1:209618584 [GRCh38]
Chr1:209791929 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) single nucleotide variant Junctional epidermolysis bullosa [RCV000361905]|not specified [RCV000250461] Chr1:209638541 [GRCh38]
Chr1:209811886 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.*102C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000266238] Chr1:209615169 [GRCh38]
Chr1:209788514 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1486-18G>A single nucleotide variant not specified [RCV000243210] Chr1:209626996 [GRCh38]
Chr1:209800341 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) single nucleotide variant Junctional epidermolysis bullosa [RCV000338796]|not specified [RCV000248182] Chr1:209626885 [GRCh38]
Chr1:209800230 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=) single nucleotide variant Junctional epidermolysis bullosa [RCV000286254]|not specified [RCV000250773] Chr1:209615358 [GRCh38]
Chr1:209788703 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) single nucleotide variant Junctional epidermolysis bullosa [RCV000341091]|not specified [RCV000253193] Chr1:209625908 [GRCh38]
Chr1:209799253 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.-55G>A single nucleotide variant Junctional epidermolysis bullosa [RCV000375832] Chr1:209652386 [GRCh38]
Chr1:209825731 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.*275C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000365461] Chr1:209614996 [GRCh38]
Chr1:209788341 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2320A>T (p.Met774Leu) single nucleotide variant not provided [RCV000306785] Chr1:209623543 [GRCh38]
Chr1:209796888 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) single nucleotide variant Junctional epidermolysis bullosa [RCV000282666]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000670329] Chr1:209616524 [GRCh38]
Chr1:209789869 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2288del (p.Gly763fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000665799]|not provided [RCV000309681] Chr1:209623575 [GRCh38]
Chr1:209796920 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.476G>A (p.Arg159Gln) single nucleotide variant not provided [RCV000359824] Chr1:209634535 [GRCh38]
Chr1:209807880 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.404G>A (p.Arg135His) single nucleotide variant not provided [RCV000325799] Chr1:209634607 [GRCh38]
Chr1:209807952 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser) single nucleotide variant not provided [RCV000490089] Chr1:209629742 [GRCh38]
Chr1:209803087 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser) single nucleotide variant Junctional epidermolysis bullosa [RCV000302393]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000670239] Chr1:209617951 [GRCh38]
Chr1:209791296 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.2(LAMB3):c.*403A>G single nucleotide variant Junctional epidermolysis bullosa [RCV000307061] Chr1:209614868 [GRCh38]
Chr1:209788213 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.-53C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000330609] Chr1:209652384 [GRCh38]
Chr1:209825729 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.876C>T (p.Arg292=) single nucleotide variant Junctional epidermolysis bullosa [RCV000366128] Chr1:209630682 [GRCh38]
Chr1:209804027 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3318G>C (p.Gln1106His) single nucleotide variant Junctional epidermolysis bullosa [RCV000349491] Chr1:209616535 [GRCh38]
Chr1:209789880 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3154C>A (p.Gln1052Lys) single nucleotide variant Junctional epidermolysis bullosa [RCV000350650] Chr1:209617484 [GRCh38]
Chr1:209790829 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.970A>G (p.Thr324Ala) single nucleotide variant Junctional epidermolysis bullosa [RCV000296033] Chr1:209629899 [GRCh38]
Chr1:209803244 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.2(LAMB3):c.*402C>T single nucleotide variant Junctional epidermolysis bullosa [RCV000364108] Chr1:209614869 [GRCh38]
Chr1:209788214 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3382+8A>G single nucleotide variant Junctional epidermolysis bullosa [RCV000372483] Chr1:209616463 [GRCh38]
Chr1:209789808 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.225_226del (p.His75fs) microsatellite Junctional epidermolysis bullosa [RCV000356272]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000675161]|not provided [RCV001209779] Chr1:209638606..209638607 [GRCh38]
Chr1:209811951..209811952 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic|uncertain significance
NM_000228.3(LAMB3):c.1592G>T (p.Cys531Phe) single nucleotide variant Junctional epidermolysis bullosa [RCV000300337] Chr1:209626872 [GRCh38]
Chr1:209800217 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2968G>A (p.Gly990Arg) single nucleotide variant Junctional epidermolysis bullosa [RCV000359442] Chr1:209617990 [GRCh38]
Chr1:209791335 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000626233] Chr1:209627523..209627524 [GRCh38]
Chr1:209800868..209800869 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.943A>C (p.Arg315=) single nucleotide variant Junctional epidermolysis bullosa [RCV000343912] Chr1:209630615 [GRCh38]
Chr1:209803960 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.76dup (p.Cys26fs) duplication Junctional epidermolysis bullosa, non-Herlitz type [RCV000585707]|not provided [RCV001388929] Chr1:209650070..209650071 [GRCh38]
Chr1:209823415..209823416 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000409210] Chr1:209630688 [GRCh38]
Chr1:209804033 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs) microsatellite Junctional epidermolysis bullosa gravis of Herlitz [RCV000409301]|not provided [RCV000413390] Chr1:209634511..209634512 [GRCh38]
Chr1:209807856..209807857 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.298+2T>C single nucleotide variant Junctional epidermolysis bullosa [RCV000778966]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000409851] Chr1:209638532 [GRCh38]
Chr1:209811877 [GRCh37]
Chr1:1q32.2
likely pathogenic|uncertain significance
NM_000228.3(LAMB3):c.1007del (p.Gln336fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000410143] Chr1:209629862 [GRCh38]
Chr1:209803207 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000410326]|not provided [RCV001385671] Chr1:209617934 [GRCh38]
Chr1:209791279 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000410367] Chr1:209617924 [GRCh38]
Chr1:209791269 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2358+2T>C single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000410456] Chr1:209623503 [GRCh38]
Chr1:209796848 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs) microsatellite Junctional epidermolysis bullosa gravis of Herlitz [RCV000410525] Chr1:209629838..209629839 [GRCh38]
Chr1:209803183..209803184 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000410580]|not provided [RCV000813187] Chr1:209625800..209625801 [GRCh38]
Chr1:209799145..209799146 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.565-1G>T single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000410699] Chr1:209633134 [GRCh38]
Chr1:209806479 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000410707]|not provided [RCV000412898] Chr1:209623517 [GRCh38]
Chr1:209796862 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.561del (p.Lys188fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000410915] Chr1:209634450 [GRCh38]
Chr1:209807795 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000410937] Chr1:209623693 [GRCh38]
Chr1:209797038 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2768_2769del (p.Thr923fs) microsatellite not provided [RCV000731496] Chr1:209618592..209618593 [GRCh38]
Chr1:209791937..209791938 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000411400] Chr1:209634506 [GRCh38]
Chr1:209807851 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.565-2A>C single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000411405] Chr1:209633135 [GRCh38]
Chr1:209806480 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.372+2T>G single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000411435] Chr1:209637906 [GRCh38]
Chr1:209811251 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) single nucleotide variant Junctional epidermolysis bullosa [RCV001449796]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000411623]|not provided [RCV001383059] Chr1:209617519 [GRCh38]
Chr1:209790864 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV001336737]|Junctional epidermolysis bullosa [RCV000778965]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000411684]|not provided [RCV001383403] Chr1:209629752 [GRCh38]
Chr1:209803097 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) deletion Junctional epidermolysis bullosa [RCV000778219]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000411821] Chr1:209623966 [GRCh38]
Chr1:209797311 [GRCh37]
Chr1:1q32.2
likely pathogenic|uncertain significance
NM_000228.3(LAMB3):c.628+1G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000411875]|not provided [RCV000523835] Chr1:209633069 [GRCh38]
Chr1:209806414 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000412071] Chr1:209629840 [GRCh38]
Chr1:209803185 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.920del (p.Gly307fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000412191] Chr1:209630638 [GRCh38]
Chr1:209803983 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.373-2A>G single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000412253] Chr1:209634640 [GRCh38]
Chr1:209807985 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000412261] Chr1:209650077..209650078 [GRCh38]
Chr1:209823422..209823423 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2842del (p.Val948fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000984194]|Junctional epidermolysis bullosa, non-Herlitz type [RCV000780371]|not provided [RCV000413231] Chr1:209618519 [GRCh38]
Chr1:209791864 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.3229-1G>T single nucleotide variant not provided [RCV000723200] Chr1:209616625 [GRCh38]
Chr1:209789970 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV000762878]|not provided [RCV000414030] Chr1:209629852 [GRCh38]
Chr1:209803197 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000408972] Chr1:209615272..209615273 [GRCh38]
Chr1:209788617..209788618 [GRCh37]
Chr1:1q32.2
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1 copy number loss See cases [RCV000446748] Chr1:209742722..210774573 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) single nucleotide variant Junctional epidermolysis bullosa, non-Herlitz type [RCV001193780]|not provided [RCV000522804] Chr1:209618044 [GRCh38]
Chr1:209791389 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.174G>A (p.Gln58=) single nucleotide variant not provided [RCV001412257] Chr1:209649973 [GRCh38]
Chr1:209823318 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) single nucleotide variant Junctional epidermolysis bullosa [RCV001269275]|not provided [RCV000485788] Chr1:209638591 [GRCh38]
Chr1:209811936 [GRCh37]
Chr1:1q32.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000228.3(LAMB3):c.1288+1G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000670229] Chr1:209628034 [GRCh38]
Chr1:209801379 [GRCh37]
Chr1:1q32.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000228.2(LAMB3):c.2138_2140delGAG (p.Gly713del) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000668852] Chr1:209623723..209623725 [GRCh38]
Chr1:209797068..209797070 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.822+2dup duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000668936] Chr1:209632580..209632581 [GRCh38]
Chr1:209805925..209805926 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1597+1G>T single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000672331] Chr1:209626866 [GRCh38]
Chr1:209800211 [GRCh37]
Chr1:1q32.2
likely pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3
pathogenic
NM_000228.3(LAMB3):c.2556+1G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000672296] Chr1:209622981 [GRCh38]
Chr1:209796326 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) single nucleotide variant Junctional epidermolysis bullosa [RCV001352730]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000984193]|not provided [RCV000578521] Chr1:209634581 [GRCh38]
Chr1:209807926 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) single nucleotide variant Amelogenesis imperfecta, type IA [RCV000520930] Chr1:209616513 [GRCh38]
Chr1:209789858 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr) single nucleotide variant not provided [RCV000586284] Chr1:209629922 [GRCh38]
Chr1:209803267 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000664736] Chr1:209623948..209623950 [GRCh38]
Chr1:209797293..209797295 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.183+2T>C single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000671158] Chr1:209649962 [GRCh38]
Chr1:209823307 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3434C>T (p.Ala1145Val) single nucleotide variant not provided [RCV000658544] Chr1:209615356 [GRCh38]
Chr1:209788701 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup) duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000670309] Chr1:209627406..209627407 [GRCh38]
Chr1:209800751..209800752 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup) microsatellite Junctional epidermolysis bullosa gravis of Herlitz [RCV000668170] Chr1:209623580..209623581 [GRCh38]
Chr1:209796925..209796926 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000668491] Chr1:209618471..209618497 [GRCh38]
Chr1:209791816..209791842 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000668635] Chr1:209616602..209616603 [GRCh38]
Chr1:209789947..209789948 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.372+1G>C single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000668741] Chr1:209637907 [GRCh38]
Chr1:209811252 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.308del (p.Pro103fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000664862] Chr1:209637972 [GRCh38]
Chr1:209811317 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000667415] Chr1:209623941 [GRCh38]
Chr1:209797286 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2137+37G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000667598] Chr1:209623803 [GRCh38]
Chr1:209797148 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup) microsatellite Junctional epidermolysis bullosa gravis of Herlitz [RCV000665944] Chr1:209623580..209623581 [GRCh38]
Chr1:209796925..209796926 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2182del (p.Ala728fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000665739] Chr1:209623681 [GRCh38]
Chr1:209797026 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) single nucleotide variant Junctional epidermolysis bullosa [RCV001096869]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000671935]|not provided [RCV000882135] Chr1:209618013 [GRCh38]
Chr1:209791358 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.1486-1G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000674594] Chr1:209626979 [GRCh38]
Chr1:209800324 [GRCh37]
Chr1:1q32.2
pathogenic|likely pathogenic
NM_000228.3(LAMB3):c.2701+1G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000668519] Chr1:209622535 [GRCh38]
Chr1:209795880 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.943+2T>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000666343] Chr1:209630613 [GRCh38]
Chr1:209803958 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2516del (p.Leu839fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000668707] Chr1:209623022 [GRCh38]
Chr1:209796367 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3052-1G>A single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV000666475] Chr1:209617587 [GRCh38]
Chr1:209790932 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000674996] Chr1:209623850..209623869 [GRCh38]
Chr1:209797195..209797214 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer) microsatellite Junctional epidermolysis bullosa gravis of Herlitz [RCV000674753] Chr1:209629803..209629804 [GRCh38]
Chr1:209803148..209803149 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1288+1G>T single nucleotide variant Amelogenesis imperfecta, type IA [RCV000762877]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000666447] Chr1:209628034 [GRCh38]
Chr1:209801379 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.977del (p.His326fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000666564] Chr1:209629892 [GRCh38]
Chr1:209803237 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1283_1288+14del deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000674106] Chr1:209628021..209628040 [GRCh38]
Chr1:209801366..209801385 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs) deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV000664480] Chr1:209623166..209623176 [GRCh38]
Chr1:209796511..209796521 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2396dup (p.Ser800fs) duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000666381] Chr1:209623141..209623142 [GRCh38]
Chr1:209796486..209796487 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV001096868]|Junctional epidermolysis bullosa gravis of Herlitz [RCV000664965] Chr1:209617996 [GRCh38]
Chr1:209791341 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3432_3434delinsGGT (p.Ala1145Val) indel not provided [RCV000722504] Chr1:209615356..209615358 [GRCh38]
Chr1:209788701..209788703 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_000228.3(LAMB3):c.912G>A (p.Pro304=) single nucleotide variant not provided [RCV000915746] Chr1:209630646 [GRCh38]
Chr1:209803991 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1603G>A (p.Asp535Asn) single nucleotide variant not provided [RCV000917168] Chr1:209626021 [GRCh38]
Chr1:209799366 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.387C>T (p.Ala129=) single nucleotide variant not provided [RCV000978286] Chr1:209634624 [GRCh38]
Chr1:209807969 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2275G>T (p.Gly759Ter) single nucleotide variant not provided [RCV000760834] Chr1:209623588 [GRCh38]
Chr1:209796933 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter) single nucleotide variant not provided [RCV000760426] Chr1:209638547 [GRCh38]
Chr1:209811892 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.337A>C (p.Arg113=) single nucleotide variant not provided [RCV000981949] Chr1:209637943 [GRCh38]
Chr1:209811288 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1486-5C>T single nucleotide variant not provided [RCV000945136] Chr1:209626983 [GRCh38]
Chr1:209800328 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2229G>A (p.Arg743=) single nucleotide variant not provided [RCV000928561] Chr1:209623634 [GRCh38]
Chr1:209796979 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1845G>A (p.Leu615=) single nucleotide variant not provided [RCV000900579] Chr1:209625779 [GRCh38]
Chr1:209799124 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2745C>T (p.Ala915=) single nucleotide variant not provided [RCV000966136] Chr1:209618616 [GRCh38]
Chr1:209791961 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2076C>T (p.Leu692=) single nucleotide variant not provided [RCV000879051] Chr1:209623901 [GRCh38]
Chr1:209797246 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.875G>T (p.Arg292Leu) single nucleotide variant not provided [RCV000924056] Chr1:209630683 [GRCh38]
Chr1:209804028 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.558G>A (p.Gly186=) single nucleotide variant not provided [RCV000945135] Chr1:209634453 [GRCh38]
Chr1:209807798 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1194G>A (p.Gln398=) single nucleotide variant Junctional epidermolysis bullosa [RCV001097077]|not provided [RCV000903507] Chr1:209628129 [GRCh38]
Chr1:209801474 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.2403C>T (p.Cys801=) single nucleotide variant Junctional epidermolysis bullosa [RCV001102376]|not provided [RCV000942078] Chr1:209623135 [GRCh38]
Chr1:209796480 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1440G>A (p.Pro480=) single nucleotide variant not provided [RCV000942079] Chr1:209627428 [GRCh38]
Chr1:209800773 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1677G>T (p.Leu559Phe) single nucleotide variant not provided [RCV000897632] Chr1:209625947 [GRCh38]
Chr1:209799292 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1924G>A (p.Ala642Thr) single nucleotide variant not provided [RCV000921221] Chr1:209625700 [GRCh38]
Chr1:209799045 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1347G>A (p.Gly449=) single nucleotide variant not provided [RCV000981176] Chr1:209627521 [GRCh38]
Chr1:209800866 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.708C>T (p.Ser236=) single nucleotide variant not provided [RCV000926902] Chr1:209632697 [GRCh38]
Chr1:209806042 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2202C>T (p.Asp734=) single nucleotide variant Junctional epidermolysis bullosa [RCV001102381]|not provided [RCV000927652] Chr1:209623661 [GRCh38]
Chr1:209797006 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.3435G>A (p.Ala1145=) single nucleotide variant not provided [RCV000898509] Chr1:209615355 [GRCh38]
Chr1:209788700 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=) single nucleotide variant not provided [RCV000976521] Chr1:209627413 [GRCh38]
Chr1:209800758 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1968C>T (p.Leu656=) single nucleotide variant not provided [RCV000944123] Chr1:209625656 [GRCh38]
Chr1:209799001 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2706C>T (p.Pro902=) single nucleotide variant not provided [RCV000904724] Chr1:209618655 [GRCh38]
Chr1:209792000 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1236A>G (p.Leu412=) single nucleotide variant Junctional epidermolysis bullosa [RCV001097076]|not provided [RCV000915937] Chr1:209628087 [GRCh38]
Chr1:209801432 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.1348C>T (p.Arg450Cys) single nucleotide variant not provided [RCV000942224] Chr1:209627520 [GRCh38]
Chr1:209800865 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2133T>G (p.Pro711=) single nucleotide variant not provided [RCV000983769] Chr1:209623844 [GRCh38]
Chr1:209797189 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3368T>A (p.Met1123Lys) single nucleotide variant Junctional epidermolysis bullosa [RCV001100301]|not provided [RCV000927920] Chr1:209616485 [GRCh38]
Chr1:209789830 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.1140G>A (p.Glu380=) single nucleotide variant not provided [RCV000898750] Chr1:209628183 [GRCh38]
Chr1:209801528 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2286C>T (p.Thr762=) single nucleotide variant Junctional epidermolysis bullosa [RCV001102379]|not provided [RCV000965586] Chr1:209623577 [GRCh38]
Chr1:209796922 [GRCh37]
Chr1:1q32.2
benign|likely benign
NM_000228.3(LAMB3):c.217C>T (p.Gln73Ter) single nucleotide variant not provided [RCV001044038] Chr1:209638615 [GRCh38]
Chr1:209811960 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2533C>T (p.Gln845Ter) single nucleotide variant not provided [RCV001007983] Chr1:209623005 [GRCh38]
Chr1:209796350 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1133-22G>A single nucleotide variant not provided [RCV001035229] Chr1:209628212 [GRCh38]
Chr1:209801557 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1500C>A (p.Cys500Ter) single nucleotide variant not provided [RCV001048653] Chr1:209626964 [GRCh38]
Chr1:209800309 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.943+1G>C single nucleotide variant not provided [RCV001066662] Chr1:209630614 [GRCh38]
Chr1:209803959 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) duplication Junctional epidermolysis bullosa gravis of Herlitz [RCV000781492]|not provided [RCV000792432] Chr1:209650115..209650116 [GRCh38]
Chr1:209823460..209823461 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.831T>C (p.Asp277=) single nucleotide variant not provided [RCV000944378] Chr1:209630727 [GRCh38]
Chr1:209804072 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.417C>T (p.Phe139=) single nucleotide variant not provided [RCV000932827] Chr1:209634594 [GRCh38]
Chr1:209807939 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2601C>T (p.Ala867=) single nucleotide variant not provided [RCV000977600] Chr1:209622636 [GRCh38]
Chr1:209795981 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1251C>T (p.Phe417=) single nucleotide variant not provided [RCV000941538] Chr1:209628072 [GRCh38]
Chr1:209801417 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3444A>G (p.Thr1148=) single nucleotide variant not provided [RCV000939924] Chr1:209615346 [GRCh38]
Chr1:209788691 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1275G>A (p.Pro425=) single nucleotide variant not provided [RCV000928311] Chr1:209628048 [GRCh38]
Chr1:209801393 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1896G>A (p.Glu632=) single nucleotide variant not provided [RCV000977238] Chr1:209625728 [GRCh38]
Chr1:209799073 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1680C>T (p.Thr560=) single nucleotide variant not provided [RCV000936649] Chr1:209625944 [GRCh38]
Chr1:209799289 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1873C>T (p.Leu625=) single nucleotide variant not provided [RCV000942245] Chr1:209625751 [GRCh38]
Chr1:209799096 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.168C>T (p.Cys56=) single nucleotide variant not provided [RCV000978299] Chr1:209649979 [GRCh38]
Chr1:209823324 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2556+10G>A single nucleotide variant not provided [RCV000945033] Chr1:209622972 [GRCh38]
Chr1:209796317 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.15C>T (p.Phe5=) single nucleotide variant Junctional epidermolysis bullosa [RCV001098930]|not provided [RCV000963420] Chr1:209650930 [GRCh38]
Chr1:209824275 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
NM_000228.3(LAMB3):c.548G>A (p.Arg183His) single nucleotide variant Junctional epidermolysis bullosa [RCV001100917]|not provided [RCV000894504] Chr1:209634463 [GRCh38]
Chr1:209807808 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.2605C>A (p.Arg869Ser) single nucleotide variant not provided [RCV000925734] Chr1:209622632 [GRCh38]
Chr1:209795977 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV001098719]|not provided [RCV000942247] Chr1:209626008 [GRCh38]
Chr1:209799353 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1449C>T (p.Cys483=) single nucleotide variant not provided [RCV000981265] Chr1:209627419 [GRCh38]
Chr1:209800764 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2005C>T (p.Leu669=) single nucleotide variant not provided [RCV000919276] Chr1:209623972 [GRCh38]
Chr1:209797317 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2871G>A (p.Ala957=) single nucleotide variant not provided [RCV000894986] Chr1:209618490 [GRCh38]
Chr1:209791835 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1275G>T (p.Pro425=) single nucleotide variant not provided [RCV000917448] Chr1:209628048 [GRCh38]
Chr1:209801393 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.734G>A (p.Arg245His) single nucleotide variant Junctional epidermolysis bullosa [RCV001100915]|not provided [RCV000937269] Chr1:209632671 [GRCh38]
Chr1:209806016 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2577T>C (p.Ser859=) single nucleotide variant not provided [RCV000976720] Chr1:209622660 [GRCh38]
Chr1:209796005 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2697A>G (p.Leu899=) single nucleotide variant Junctional epidermolysis bullosa [RCV001098625]|not provided [RCV000976380] Chr1:209622540 [GRCh38]
Chr1:209795885 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.2551C>T (p.Gln851Ter) single nucleotide variant not provided [RCV000822097] Chr1:209622987 [GRCh38]
Chr1:209796332 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1149G>T (p.Pro383=) single nucleotide variant not provided [RCV000975319] Chr1:209628174 [GRCh38]
Chr1:209801519 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.405C>T (p.Arg135=) single nucleotide variant not provided [RCV000976444] Chr1:209634606 [GRCh38]
Chr1:209807951 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2685_2701+2del deletion Junctional epidermolysis bullosa [RCV000826114] Chr1:209622534..209622552 [GRCh38]
Chr1:209795879..209795897 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.79T>C (p.Tyr27His) single nucleotide variant Junctional epidermolysis bullosa [RCV001098929] Chr1:209650068 [GRCh38]
Chr1:209823413 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.475C>T (p.Arg159Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV001097180] Chr1:209634536 [GRCh38]
Chr1:209807881 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.55C>T (p.Gln19Ter) single nucleotide variant not provided [RCV000795875] Chr1:209650092 [GRCh38]
Chr1:209823437 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1970C>A (p.Ser657Tyr) single nucleotide variant Junctional epidermolysis bullosa [RCV001096980] Chr1:209625654 [GRCh38]
Chr1:209798999 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1734C>T (p.Cys578=) single nucleotide variant Junctional epidermolysis bullosa [RCV001098718] Chr1:209625890 [GRCh38]
Chr1:209799235 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2138-7G>A single nucleotide variant not provided [RCV000942903] Chr1:209623732 [GRCh38]
Chr1:209797077 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2448C>T (p.Ser816=) single nucleotide variant not provided [RCV000917712] Chr1:209623090 [GRCh38]
Chr1:209796435 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.68G>A (p.Arg23His) single nucleotide variant not provided [RCV000894212] Chr1:209650079 [GRCh38]
Chr1:209823424 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.*279G>A single nucleotide variant Junctional epidermolysis bullosa [RCV001096781] Chr1:209614992 [GRCh38]
Chr1:209788337 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.242G>A (p.Arg81Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV001098928] Chr1:209638590 [GRCh38]
Chr1:209811935 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3
uncertain significance
NM_000228.3(LAMB3):c.2665C>T (p.Arg889Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV001098626] Chr1:209622572 [GRCh38]
Chr1:209795917 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001193781] Chr1:209634582 [GRCh38]
Chr1:209807927 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1075C>T (p.Gln359Ter) single nucleotide variant not provided [RCV001230932] Chr1:209629794 [GRCh38]
Chr1:209803139 [GRCh37]
Chr1:1q32.2
pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
NM_000228.3(LAMB3):c.2300_2301dup (p.Val768fs) duplication not provided [RCV001237963] Chr1:209623561..209623562 [GRCh38]
Chr1:209796906..209796907 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1191del (p.Gln398fs) deletion not provided [RCV001225450] Chr1:209628132 [GRCh38]
Chr1:209801477 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001174997] Chr1:209626870 [GRCh38]
Chr1:209800215 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.*137T>C single nucleotide variant Junctional epidermolysis bullosa [RCV001096784] Chr1:209615134 [GRCh38]
Chr1:209788479 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.*124C>T single nucleotide variant Junctional epidermolysis bullosa [RCV001096786] Chr1:209615147 [GRCh38]
Chr1:209788492 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1151A>G (p.Asp384Gly) single nucleotide variant Junctional epidermolysis bullosa [RCV001097078] Chr1:209628172 [GRCh38]
Chr1:209801517 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1450G>T (p.Asp484Tyr) single nucleotide variant Junctional epidermolysis bullosa [RCV001102475] Chr1:209627418 [GRCh38]
Chr1:209800763 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001193782] Chr1:209627532 [GRCh38]
Chr1:209800877 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1748C>A (p.Pro583His) single nucleotide variant Junctional epidermolysis bullosa [RCV001098717] Chr1:209625876 [GRCh38]
Chr1:209799221 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1786G>T (p.Ala596Ser) single nucleotide variant not provided [RCV000944335] Chr1:209625838 [GRCh38]
Chr1:209799183 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2962C>A (p.Arg988=) single nucleotide variant not provided [RCV000922350] Chr1:209617996 [GRCh38]
Chr1:209791341 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3192G>A (p.Ala1064=) single nucleotide variant not provided [RCV000930859] Chr1:209617446 [GRCh38]
Chr1:209790791 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2472G>A (p.Arg824=) single nucleotide variant not provided [RCV000930868] Chr1:209623066 [GRCh38]
Chr1:209796411 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2475C>T (p.Ala825=) single nucleotide variant Junctional epidermolysis bullosa [RCV001100414]|not provided [RCV000929661] Chr1:209623063 [GRCh38]
Chr1:209796408 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.948C>T (p.Cys316=) single nucleotide variant not provided [RCV000983584] Chr1:209629921 [GRCh38]
Chr1:209803266 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1132+7A>G single nucleotide variant not provided [RCV000931621] Chr1:209629730 [GRCh38]
Chr1:209803075 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1335C>T (p.Asp445=) single nucleotide variant not provided [RCV000932360] Chr1:209627533 [GRCh38]
Chr1:209800878 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2613G>A (p.Glu871=) single nucleotide variant not provided [RCV000980140] Chr1:209622624 [GRCh38]
Chr1:209795969 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.402G>A (p.Glu134=) single nucleotide variant not provided [RCV000979864] Chr1:209634609 [GRCh38]
Chr1:209807954 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1605C>T (p.Asp535=) single nucleotide variant not provided [RCV000932612] Chr1:209626019 [GRCh38]
Chr1:209799364 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1549C>T (p.Arg517Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV001100531]|not provided [RCV000941854] Chr1:209626915 [GRCh38]
Chr1:209800260 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.2166C>T (p.Tyr722=) single nucleotide variant not provided [RCV000981051] Chr1:209623697 [GRCh38]
Chr1:209797042 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1770G>A (p.Ala590=) single nucleotide variant not provided [RCV000896945] Chr1:209625854 [GRCh38]
Chr1:209799199 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3252G>A (p.Lys1084=) single nucleotide variant not provided [RCV000939960] Chr1:209616601 [GRCh38]
Chr1:209789946 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2147G>A (p.Arg716Gln) single nucleotide variant not provided [RCV000888395] Chr1:209623716 [GRCh38]
Chr1:209797061 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3501C>T (p.Tyr1167=) single nucleotide variant not provided [RCV000978308] Chr1:209615289 [GRCh38]
Chr1:209788634 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.171C>A (p.Thr57=) single nucleotide variant not provided [RCV000976336] Chr1:209649976 [GRCh38]
Chr1:209823321 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2094G>A (p.Arg698=) single nucleotide variant not provided [RCV000932850] Chr1:209623883 [GRCh38]
Chr1:209797228 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1862C>T (p.Ala621Val) single nucleotide variant not provided [RCV000892982] Chr1:209625762 [GRCh38]
Chr1:209799107 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.444C>T (p.Tyr148=) single nucleotide variant not provided [RCV000929271] Chr1:209634567 [GRCh38]
Chr1:209807912 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.453C>T (p.Ala151=) single nucleotide variant not provided [RCV000940518] Chr1:209634558 [GRCh38]
Chr1:209807903 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1586C>T (p.Thr529Ile) single nucleotide variant Junctional epidermolysis bullosa [RCV001100530] Chr1:209626878 [GRCh38]
Chr1:209800223 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.859G>A (p.Gly287Ser) single nucleotide variant Junctional epidermolysis bullosa [RCV001100641] Chr1:209630699 [GRCh38]
Chr1:209804044 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.-72C>A single nucleotide variant Junctional epidermolysis bullosa [RCV001100746] Chr1:209652403 [GRCh38]
Chr1:209825748 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3061G>C (p.Val1021Leu) single nucleotide variant Junctional epidermolysis bullosa [RCV001102272] Chr1:209617577 [GRCh38]
Chr1:209790922 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001175307] Chr1:209625685 [GRCh38]
Chr1:209799030 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.3323T>G (p.Val1108Gly) single nucleotide variant Junctional epidermolysis bullosa [RCV001100302] Chr1:209616530 [GRCh38]
Chr1:209789875 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2568C>T (p.Ala856=) single nucleotide variant Junctional epidermolysis bullosa [RCV001098628]|not provided [RCV000912239] Chr1:209622669 [GRCh38]
Chr1:209796014 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.628+7G>A single nucleotide variant not provided [RCV000935168] Chr1:209633063 [GRCh38]
Chr1:209806408 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2298G>A (p.Lys766=) single nucleotide variant Junctional epidermolysis bullosa [RCV001102378]|not provided [RCV000934459] Chr1:209623565 [GRCh38]
Chr1:209796910 [GRCh37]
Chr1:1q32.2
likely benign|uncertain significance
NM_000228.3(LAMB3):c.822+9C>T single nucleotide variant not provided [RCV000912276] Chr1:209632574 [GRCh38]
Chr1:209805919 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3006A>G (p.Gln1002=) single nucleotide variant not provided [RCV000935337] Chr1:209617952 [GRCh38]
Chr1:209791297 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2260C>T (p.Arg754Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV001102380]|not provided [RCV000955852] Chr1:209623603 [GRCh38]
Chr1:209796948 [GRCh37]
Chr1:1q32.2
benign
NM_000228.3(LAMB3):c.2359-3C>T single nucleotide variant Junctional epidermolysis bullosa [RCV001102377] Chr1:209623182 [GRCh38]
Chr1:209796527 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NM_000228.3(LAMB3):c.1536C>A (p.Ser512Arg) single nucleotide variant Junctional epidermolysis bullosa [RCV001100532] Chr1:209626928 [GRCh38]
Chr1:209800273 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.-38+14C>T single nucleotide variant Junctional epidermolysis bullosa [RCV001100745] Chr1:209652355 [GRCh38]
Chr1:209825700 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1516T>A (p.Phe506Ile) single nucleotide variant Junctional epidermolysis bullosa [RCV001102474] Chr1:209626948 [GRCh38]
Chr1:209800293 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3025C>T (p.Arg1009Trp) single nucleotide variant Junctional epidermolysis bullosa [RCV001102274] Chr1:209617933 [GRCh38]
Chr1:209791278 [GRCh37]
Chr1:1q32.2
uncertain significance
NC_000001.11:g.209617587del deletion Junctional epidermolysis bullosa gravis of Herlitz [RCV001004139] Chr1:209617586 [GRCh38]
Chr1:209790931 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.*224G>A single nucleotide variant Junctional epidermolysis bullosa [RCV001096783] Chr1:209615047 [GRCh38]
Chr1:209788392 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.*132G>A single nucleotide variant Junctional epidermolysis bullosa [RCV001096785] Chr1:209615139 [GRCh38]
Chr1:209788484 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1793G>A (p.Arg598His) single nucleotide variant Junctional epidermolysis bullosa [RCV001096981] Chr1:209625831 [GRCh38]
Chr1:209799176 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3228+1G>A single nucleotide variant not provided [RCV001041797] Chr1:209617409 [GRCh38]
Chr1:209790754 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.*70G>A single nucleotide variant Junctional epidermolysis bullosa [RCV001098536] Chr1:209615201 [GRCh38]
Chr1:209788546 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3416C>T (p.Ala1139Val) single nucleotide variant Junctional epidermolysis bullosa [RCV001098537] Chr1:209615374 [GRCh38]
Chr1:209788719 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.914C>T (p.Ala305Val) single nucleotide variant Junctional epidermolysis bullosa [RCV001098830]|not provided [RCV001355596] Chr1:209630644 [GRCh38]
Chr1:209803989 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1266C>A (p.Tyr422Ter) single nucleotide variant not provided [RCV001236187] Chr1:209628057 [GRCh38]
Chr1:209801402 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1328C>T (p.Pro443Leu) single nucleotide variant Junctional epidermolysis bullosa [RCV001102476] Chr1:209627540 [GRCh38]
Chr1:209800885 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1288C>T (p.Arg430Cys) single nucleotide variant Junctional epidermolysis bullosa [RCV001102477] Chr1:209628035 [GRCh38]
Chr1:209801380 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.*262G>A single nucleotide variant Junctional epidermolysis bullosa [RCV001096782] Chr1:209615009 [GRCh38]
Chr1:209788354 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.373-15C>T single nucleotide variant Junctional epidermolysis bullosa [RCV001097181] Chr1:209634653 [GRCh38]
Chr1:209807998 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.436dup (p.Tyr146fs) duplication not provided [RCV001071826] Chr1:209634574..209634575 [GRCh38]
Chr1:209807919..209807920 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2640G>C (p.Gln880His) single nucleotide variant Junctional epidermolysis bullosa [RCV001098627] Chr1:209622597 [GRCh38]
Chr1:209795942 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3152G>A (p.Arg1051Gln) single nucleotide variant Junctional epidermolysis bullosa [RCV001100303] Chr1:209617486 [GRCh38]
Chr1:209790831 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.707G>C (p.Ser236Thr) single nucleotide variant Junctional epidermolysis bullosa [RCV001100916] Chr1:209632698 [GRCh38]
Chr1:209806043 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3051+9T>C single nucleotide variant Junctional epidermolysis bullosa [RCV001102273] Chr1:209617898 [GRCh38]
Chr1:209791243 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.*19G>A single nucleotide variant not specified [RCV001251315] Chr1:209615252 [GRCh38]
Chr1:209788597 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.3055C>T (p.Gln1019Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263939] Chr1:209617583 [GRCh38]
Chr1:209790928 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3382+1G>A single nucleotide variant Amelogenesis imperfecta, type IA [RCV001332296] Chr1:209616470 [GRCh38]
Chr1:209789815 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.3130G>T (p.Glu1044Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263938] Chr1:209617508 [GRCh38]
Chr1:209790853 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2992C>T (p.Gln998Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263940] Chr1:209617966 [GRCh38]
Chr1:209791311 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1783C>T (p.Gln595Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263941] Chr1:209625841 [GRCh38]
Chr1:209799186 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1665C>A (p.Cys555Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263942] Chr1:209625959 [GRCh38]
Chr1:209799304 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1510G>T (p.Glu504Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263943] Chr1:209626954 [GRCh38]
Chr1:209800299 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1479C>A (p.Cys493Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263944] Chr1:209627389 [GRCh38]
Chr1:209800734 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1474C>T (p.Gln492Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001263945] Chr1:209627394 [GRCh38]
Chr1:209800739 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1426C>T (p.Gln476Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264105] Chr1:209627442 [GRCh38]
Chr1:209800787 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1266C>G (p.Tyr422Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264106] Chr1:209628057 [GRCh38]
Chr1:209801402 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1143T>A (p.Cys381Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264107] Chr1:209628180 [GRCh38]
Chr1:209801525 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.975T>A (p.Cys325Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264108] Chr1:209629894 [GRCh38]
Chr1:209803239 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.948C>A (p.Cys316Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264109] Chr1:209629921 [GRCh38]
Chr1:209803266 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.784A>T (p.Lys262Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264111] Chr1:209632621 [GRCh38]
Chr1:209805966 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.714C>A (p.Tyr238Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264112] Chr1:209632691 [GRCh38]
Chr1:209806036 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.940C>T (p.Gln314Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264110] Chr1:209630618 [GRCh38]
Chr1:209803963 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.459C>A (p.Cys153Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264232] Chr1:209634552 [GRCh38]
Chr1:209807897 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.202A>T (p.Lys68Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264233] Chr1:209638630 [GRCh38]
Chr1:209811975 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.519C>A (p.Cys173Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001264231] Chr1:209634492 [GRCh38]
Chr1:209807837 [GRCh37]
Chr1:1q32.2
likely pathogenic
GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3 copy number gain not provided [RCV001259105] Chr1:208703835..210154164 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001290301] Chr1:209623675 [GRCh38]
Chr1:209797020 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1976+8C>A single nucleotide variant not provided [RCV001433020] Chr1:209625640 [GRCh38]
Chr1:209798985 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3168G>A (p.Glu1056=) single nucleotide variant not provided [RCV001433850] Chr1:209617470 [GRCh38]
Chr1:209790815 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2160A>G (p.Thr720=) single nucleotide variant not provided [RCV001396943] Chr1:209623703 [GRCh38]
Chr1:209797048 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter) single nucleotide variant Junctional epidermolysis bullosa gravis of Herlitz [RCV001374699] Chr1:209625868 [GRCh38]
Chr1:209799213 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) single nucleotide variant Amelogenesis imperfecta, type IA [RCV001336738] Chr1:209617995 [GRCh38]
Chr1:209791340 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1884G>A (p.Lys628=) single nucleotide variant not provided [RCV001413335] Chr1:209625740 [GRCh38]
Chr1:209799085 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1794C>T (p.Arg598=) single nucleotide variant not provided [RCV001415009] Chr1:209625830 [GRCh38]
Chr1:209799175 [GRCh37]
Chr1:1q32.2
likely benign
NC_000001.10:g.(?_209798983)_(209812003_?)del deletion not provided [RCV001383146] Chr1:209798983..209812003 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser) indel Amelogenesis imperfecta, type IA [RCV001332297] Chr1:209632749..209632750 [GRCh38]
Chr1:209806094..209806095 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.2788C>T (p.Gln930Ter) single nucleotide variant not provided [RCV001383257] Chr1:209618573 [GRCh38]
Chr1:209791918 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.3408C>T (p.Gly1136=) single nucleotide variant not provided [RCV001423137] Chr1:209615382 [GRCh38]
Chr1:209788727 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.132A>C (p.Ser44=) single nucleotide variant not provided [RCV001392470] Chr1:209650015 [GRCh38]
Chr1:209823360 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1634del (p.Gly545fs) deletion Junctional epidermolysis bullosa [RCV001352731] Chr1:209625990 [GRCh38]
Chr1:209799335 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2047del (p.Glu683fs) deletion Junctional epidermolysis bullosa [RCV001352732] Chr1:209623930 [GRCh38]
Chr1:209797275 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys) single nucleotide variant not provided [RCV001356996] Chr1:209622605 [GRCh38]
Chr1:209795950 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1198G>C (p.Val400Leu) single nucleotide variant not provided [RCV001320230] Chr1:209628125 [GRCh38]
Chr1:209801470 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_000228.3(LAMB3):c.1578C>T (p.Asp526=) single nucleotide variant not provided [RCV001413307] Chr1:209626886 [GRCh38]
Chr1:209800231 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1407C>T (p.His469=) single nucleotide variant not provided [RCV001412755] Chr1:209627461 [GRCh38]
Chr1:209800806 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.672G>T (p.Leu224=) single nucleotide variant not provided [RCV001412734] Chr1:209632733 [GRCh38]
Chr1:209806078 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro) single nucleotide variant Junctional epidermolysis bullosa [RCV001352729] Chr1:209637957 [GRCh38]
Chr1:209811302 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2250G>A (p.Glu750=) single nucleotide variant not provided [RCV001413272] Chr1:209623613 [GRCh38]
Chr1:209796958 [GRCh37]
Chr1:1q32.2
likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000228.3(LAMB3):c.1257A>T (p.Gly419=) single nucleotide variant not provided [RCV001310897] Chr1:209628066 [GRCh38]
Chr1:209801411 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2412G>A (p.Glu804=) single nucleotide variant not provided [RCV001424564] Chr1:209623126 [GRCh38]
Chr1:209796471 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.193_196del (p.Lys65fs) deletion not provided [RCV001385200] Chr1:209638636..209638639 [GRCh38]
Chr1:209811981..209811984 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.616C>T (p.Gln206Ter) single nucleotide variant not provided [RCV001385416] Chr1:209633082 [GRCh38]
Chr1:209806427 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.135T>C (p.Ser45=) single nucleotide variant not provided [RCV001405228] Chr1:209650012 [GRCh38]
Chr1:209823357 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2355C>T (p.Asn785=) single nucleotide variant not provided [RCV001405399] Chr1:209623508 [GRCh38]
Chr1:209796853 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1597+10C>G single nucleotide variant not provided [RCV001437085] Chr1:209626857 [GRCh38]
Chr1:209800202 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2359-8G>A single nucleotide variant not provided [RCV001434232] Chr1:209623187 [GRCh38]
Chr1:209796532 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.576C>T (p.Asn192=) single nucleotide variant not provided [RCV001397812] Chr1:209633122 [GRCh38]
Chr1:209806467 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2373C>G (p.Ser791=) single nucleotide variant not provided [RCV001428999] Chr1:209623165 [GRCh38]
Chr1:209796510 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1644G>A (p.Lys548=) single nucleotide variant not provided [RCV001393164] Chr1:209625980 [GRCh38]
Chr1:209799325 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1923C>T (p.Pro641=) single nucleotide variant not provided [RCV001418988] Chr1:209625701 [GRCh38]
Chr1:209799046 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2031C>A (p.Ser677=) single nucleotide variant not provided [RCV001406120] Chr1:209623946 [GRCh38]
Chr1:209797291 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2359-6C>T single nucleotide variant not provided [RCV001398113] Chr1:209623185 [GRCh38]
Chr1:209796530 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.28+1G>T single nucleotide variant not provided [RCV001376944] Chr1:209650916 [GRCh38]
Chr1:209824261 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.2910-5C>T single nucleotide variant not provided [RCV001403888] Chr1:209618053 [GRCh38]
Chr1:209791398 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1245G>A (p.Pro415=) single nucleotide variant not provided [RCV001437868] Chr1:209628078 [GRCh38]
Chr1:209801423 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1427dup (p.Cys478fs) duplication not provided [RCV001381745] Chr1:209627440..209627441 [GRCh38]
Chr1:209800785..209800786 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1980A>T (p.Arg660=) single nucleotide variant not provided [RCV001427244] Chr1:209623997 [GRCh38]
Chr1:209797342 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3411C>T (p.Ser1137=) single nucleotide variant not provided [RCV001393860] Chr1:209615379 [GRCh38]
Chr1:209788724 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1814_1827del (p.Ala605fs) deletion not provided [RCV001389058] Chr1:209625797..209625810 [GRCh38]
Chr1:209799142..209799155 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter) single nucleotide variant not provided [RCV001380190] Chr1:209625922 [GRCh38]
Chr1:209799267 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.628+9G>A single nucleotide variant not provided [RCV001448479] Chr1:209633061 [GRCh38]
Chr1:209806406 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.414C>T (p.Asp138=) single nucleotide variant not provided [RCV001439542] Chr1:209634597 [GRCh38]
Chr1:209807942 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1926A>G (p.Ala642=) single nucleotide variant not provided [RCV001411966] Chr1:209625698 [GRCh38]
Chr1:209799043 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.241C>A (p.Arg81=) single nucleotide variant not provided [RCV001440942] Chr1:209638591 [GRCh38]
Chr1:209811936 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2685C>A (p.Val895=) single nucleotide variant not provided [RCV001448869] Chr1:209622552 [GRCh38]
Chr1:209795897 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.495T>C (p.Pro165=) single nucleotide variant not provided [RCV001404848] Chr1:209634516 [GRCh38]
Chr1:209807861 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1185G>T (p.Val395=) single nucleotide variant not provided [RCV001430722] Chr1:209628138 [GRCh38]
Chr1:209801483 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.216G>A (p.Arg72=) single nucleotide variant not provided [RCV001399412] Chr1:209638616 [GRCh38]
Chr1:209811961 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.565-1G>A single nucleotide variant not provided [RCV001387425] Chr1:209633134 [GRCh38]
Chr1:209806479 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1485+8G>A single nucleotide variant not provided [RCV001432898] Chr1:209627375 [GRCh38]
Chr1:209800720 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2268G>A (p.Ala756=) single nucleotide variant not provided [RCV001444054] Chr1:209623595 [GRCh38]
Chr1:209796940 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1056C>G (p.Gly352=) single nucleotide variant not provided [RCV001444056] Chr1:209629813 [GRCh38]
Chr1:209803158 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1929C>A (p.Val643=) single nucleotide variant not provided [RCV001434295] Chr1:209625695 [GRCh38]
Chr1:209799040 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer) deletion not provided [RCV001388400] Chr1:209625948 [GRCh38]
Chr1:209799293 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2937G>A (p.Gln979=) single nucleotide variant not provided [RCV001444290] Chr1:209618021 [GRCh38]
Chr1:209791366 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3414G>A (p.Gln1138=) single nucleotide variant not provided [RCV001449457] Chr1:209615376 [GRCh38]
Chr1:209788721 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1263C>A (p.Thr421=) single nucleotide variant not provided [RCV001439345] Chr1:209628060 [GRCh38]
Chr1:209801405 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1212T>C (p.His404=) single nucleotide variant not provided [RCV001444544] Chr1:209628111 [GRCh38]
Chr1:209801456 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1818C>T (p.Thr606=) single nucleotide variant not provided [RCV001434537] Chr1:209625806 [GRCh38]
Chr1:209799151 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2871G>C (p.Ala957=) single nucleotide variant not provided [RCV001401219] Chr1:209618490 [GRCh38]
Chr1:209791835 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.612A>G (p.Gln204=) single nucleotide variant not provided [RCV001444732] Chr1:209633086 [GRCh38]
Chr1:209806431 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.834C>G (p.Val278=) single nucleotide variant not provided [RCV001434786] Chr1:209630724 [GRCh38]
Chr1:209804069 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3429C>T (p.Arg1143=) single nucleotide variant not provided [RCV001437950] Chr1:209615361 [GRCh38]
Chr1:209788706 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3237G>A (p.Glu1079=) single nucleotide variant not provided [RCV001431491] Chr1:209616616 [GRCh38]
Chr1:209789961 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.642C>T (p.Ile214=) single nucleotide variant not provided [RCV001429289] Chr1:209632763 [GRCh38]
Chr1:209806108 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3015C>T (p.Ser1005=) single nucleotide variant not provided [RCV001442863] Chr1:209617943 [GRCh38]
Chr1:209791288 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1638C>T (p.Cys546=) single nucleotide variant not provided [RCV001408776] Chr1:209625986 [GRCh38]
Chr1:209799331 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3171A>C (p.Ala1057=) single nucleotide variant not provided [RCV001428377] Chr1:209617467 [GRCh38]
Chr1:209790812 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.213C>T (p.Ser71=) single nucleotide variant not provided [RCV001428380] Chr1:209638619 [GRCh38]
Chr1:209811964 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1962C>A (p.Ala654=) single nucleotide variant not provided [RCV001411180] Chr1:209625662 [GRCh38]
Chr1:209799007 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.221_225del (p.Pro74fs) deletion not provided [RCV001386783] Chr1:209638607..209638611 [GRCh38]
Chr1:209811952..209811956 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2622G>A (p.Val874=) single nucleotide variant not provided [RCV001432032] Chr1:209622615 [GRCh38]
Chr1:209795960 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1486-4G>A single nucleotide variant not provided [RCV001445446] Chr1:209626982 [GRCh38]
Chr1:209800327 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3450G>A (p.Leu1150=) single nucleotide variant not provided [RCV001445476] Chr1:209615340 [GRCh38]
Chr1:209788685 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1209G>A (p.Glu403=) single nucleotide variant not provided [RCV001411461] Chr1:209628114 [GRCh38]
Chr1:209801459 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.372+7C>T single nucleotide variant not provided [RCV001418022] Chr1:209637901 [GRCh38]
Chr1:209811246 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2268G>T (p.Ala756=) single nucleotide variant not provided [RCV001427267] Chr1:209623595 [GRCh38]
Chr1:209796940 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1509G>A (p.Arg503=) single nucleotide variant not provided [RCV001416468] Chr1:209626955 [GRCh38]
Chr1:209800300 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2138-4A>G single nucleotide variant not provided [RCV001393851] Chr1:209623729 [GRCh38]
Chr1:209797074 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2295C>G (p.Pro765=) single nucleotide variant not provided [RCV001419628] Chr1:209623568 [GRCh38]
Chr1:209796913 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.422dup (p.Thr142fs) duplication not provided [RCV001382102] Chr1:209634588..209634589 [GRCh38]
Chr1:209807933..209807934 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.1779G>A (p.Arg593=) single nucleotide variant not provided [RCV001440193] Chr1:209625845 [GRCh38]
Chr1:209799190 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.823-1G>A single nucleotide variant not provided [RCV001383404] Chr1:209630736 [GRCh38]
Chr1:209804081 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.792G>A (p.Gly264=) single nucleotide variant not provided [RCV001438232] Chr1:209632613 [GRCh38]
Chr1:209805958 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3279T>C (p.Gly1093=) single nucleotide variant not provided [RCV001423510] Chr1:209616574 [GRCh38]
Chr1:209789919 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2138-1G>A single nucleotide variant not provided [RCV001378595] Chr1:209623726 [GRCh38]
Chr1:209797071 [GRCh37]
Chr1:1q32.2
likely pathogenic
NM_000228.3(LAMB3):c.1329G>A (p.Pro443=) single nucleotide variant not provided [RCV001434159] Chr1:209627539 [GRCh38]
Chr1:209800884 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.939C>T (p.Cys313=) single nucleotide variant not provided [RCV001399863] Chr1:209630619 [GRCh38]
Chr1:209803964 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2413C>T (p.Leu805=) single nucleotide variant not provided [RCV001400477] Chr1:209623125 [GRCh38]
Chr1:209796470 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2070T>C (p.Asn690=) single nucleotide variant not provided [RCV001393459] Chr1:209623907 [GRCh38]
Chr1:209797252 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2664A>G (p.Thr888=) single nucleotide variant not provided [RCV001402159] Chr1:209622573 [GRCh38]
Chr1:209795918 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1398T>C (p.Ala466=) single nucleotide variant not provided [RCV001393803] Chr1:209627470 [GRCh38]
Chr1:209800815 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.342C>T (p.Phe114=) single nucleotide variant not provided [RCV001441460] Chr1:209637938 [GRCh38]
Chr1:209811283 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.1080G>A (p.Leu360=) single nucleotide variant not provided [RCV001430714] Chr1:209629789 [GRCh38]
Chr1:209803134 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.3240A>G (p.Arg1080=) single nucleotide variant not provided [RCV001416889] Chr1:209616613 [GRCh38]
Chr1:209789958 [GRCh37]
Chr1:1q32.2
likely benign
NM_000228.3(LAMB3):c.2872del (p.Arg958fs) deletion not provided [RCV001384549] Chr1:209618489 [GRCh38]
Chr1:209791834 [GRCh37]
Chr1:1q32.2
pathogenic
NM_000228.3(LAMB3):c.2208G>A (p.Ser736=) single nucleotide variant not provided [RCV001394315] Chr1:209623655 [GRCh38]
Chr1:209797000 [GRCh37]
Chr1:1q32.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6490 AgrOrtholog
COSMIC LAMB3 COSMIC
Ensembl Genes ENSG00000196878 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348384 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355997 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000375778 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388960 UniProtKB/TrEMBL
  ENSP00000398683 UniProtKB/TrEMBL
Ensembl Transcript ENST00000356082 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367030 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000391911 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415782 UniProtKB/TrEMBL
  ENST00000455193 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196878 GTEx
HGNC ID HGNC:6490 ENTREZGENE
Human Proteome Map LAMB3 Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3914 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3914 ENTREZGENE
OMIM 104530 OMIM
  150310 OMIM
  226650 OMIM
  226700 OMIM
Pfam Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30278 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMININ_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49785 UniProtKB/TrEMBL
UniProt A0A0S2Z3R6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3Z3_HUMAN UniProtKB/TrEMBL
  LAMB3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5THA1_HUMAN UniProtKB/TrEMBL
  X1WI29_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DT88 UniProtKB/Swiss-Prot
  O14947 UniProtKB/Swiss-Prot
  Q14733 UniProtKB/Swiss-Prot
  Q9UJK4 UniProtKB/Swiss-Prot
  Q9UJL1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LAMB3  laminin subunit beta 3    laminin, beta 3  Symbol and/or name change 5135510 APPROVED
2011-08-16 LAMB3  laminin, beta 3  LAMB3  laminin, beta 3  Symbol and/or name change 5135510 APPROVED