LAMA5 (laminin subunit alpha 5) - Rat Genome Database

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Gene: LAMA5 (laminin subunit alpha 5) Homo sapiens
Analyze
Symbol: LAMA5
Name: laminin subunit alpha 5
RGD ID: 1354079
HGNC Page HGNC
Description: Exhibits integrin binding activity. Involved in cell migration; integrin-mediated signaling pathway; and substrate adhesion-dependent cell spreading. Localizes to extracellular space and laminin-10 complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA1907; laminin alpha-5 chain; laminin subunit alpha-5; laminin, alpha 5; laminin-10 subunit alpha; laminin-11 subunit alpha; laminin-15 subunit alpha
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 Ensembl2062,307,955 - 62,367,312 (-)EnsemblGRCh38hg38GRCh38
GRCh382062,309,060 - 62,367,318 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372060,884,121 - 60,942,368 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362060,317,516 - 60,375,763 (-)NCBINCBI36hg18NCBI36
Build 342060,317,515 - 60,375,763NCBI
Celera2057,619,270 - 57,677,579 (-)NCBI
Cytogenetic Map20q13.33NCBI
HuRef2057,659,916 - 57,715,071 (-)NCBIHuRef
CHM1_12060,784,876 - 60,843,394 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
2-nitrofluorene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
anthracen-2-amine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
boric acid  (EXP,ISO)
butanal  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP)
carbonyl sulfide  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fenvalerate  (ISO)
fipronil  (ISO)
folic acid  (ISO)
gossypol  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
menadione  (EXP)
mifepristone  (ISO)
N-nitrosodiethylamine  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (EXP)
potassium dichromate  (ISO)
retinyl acetate  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
T-2 toxin  (ISO)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
triclosan  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zalcitabine  (ISO)
zinc atom  (EXP)
zinc(0)  (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
References

Additional References at PubMed
PMID:7499364   PMID:9006922   PMID:9245798   PMID:9271224   PMID:9353324   PMID:9597096   PMID:9628581   PMID:10207021   PMID:10617638   PMID:10620696   PMID:10671376   PMID:10964500  
PMID:10964957   PMID:11104726   PMID:11133776   PMID:11159210   PMID:11311202   PMID:11352943   PMID:11572484   PMID:11780052   PMID:11821406   PMID:11891225   PMID:11964076   PMID:11985661  
PMID:12242717   PMID:12244066   PMID:12366691   PMID:12379663   PMID:12382139   PMID:12393739   PMID:12477932   PMID:12682087   PMID:12691260   PMID:12743034   PMID:12817023   PMID:14557481  
PMID:14691145   PMID:15231748   PMID:15302884   PMID:15579904   PMID:15774758   PMID:15967115   PMID:15975931   PMID:16169070   PMID:16226104   PMID:16236823   PMID:16289162   PMID:16339173  
PMID:16460839   PMID:16581764   PMID:16723698   PMID:16940506   PMID:17888902   PMID:18496706   PMID:18523231   PMID:18635166   PMID:18654987   PMID:18694491   PMID:19056867   PMID:19199708  
PMID:19615022   PMID:19752234   PMID:19913121   PMID:20019771   PMID:20433883   PMID:20551380   PMID:20628086   PMID:20819124   PMID:20951195   PMID:20972440   PMID:21067603   PMID:21195710  
PMID:21461966   PMID:21630459   PMID:21858073   PMID:21873635   PMID:21921666   PMID:22099024   PMID:22199357   PMID:22268729   PMID:22666383   PMID:22898364   PMID:23022198   PMID:23264881  
PMID:23376485   PMID:23533145   PMID:23535732   PMID:23658023   PMID:23715200   PMID:24036115   PMID:24503541   PMID:24737748   PMID:24742657   PMID:25037231   PMID:25241761   PMID:26186194  
PMID:26235893   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26968355   PMID:27068509   PMID:27143691   PMID:27559042   PMID:27614294   PMID:28077445   PMID:28190767   PMID:28412362  
PMID:28514442   PMID:28544784   PMID:28618934   PMID:28675934   PMID:28735299   PMID:28926760   PMID:29117863   PMID:29198708   PMID:29344581   PMID:29377152   PMID:29509190   PMID:29534211  
PMID:29764427   PMID:29906214   PMID:29908552   PMID:30021884   PMID:30200802   PMID:30389143   PMID:30522103   PMID:30589377   PMID:30808327   PMID:31343575   PMID:31343991   PMID:31527615  
PMID:31530475   PMID:31978696   PMID:32017712   PMID:32334043  


Genomics

Comparative Map Data
LAMA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2062,307,955 - 62,367,312 (-)EnsemblGRCh38hg38GRCh38
GRCh382062,309,060 - 62,367,318 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372060,884,121 - 60,942,368 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362060,317,516 - 60,375,763 (-)NCBINCBI36hg18NCBI36
Build 342060,317,515 - 60,375,763NCBI
Celera2057,619,270 - 57,677,579 (-)NCBI
Cytogenetic Map20q13.33NCBI
HuRef2057,659,916 - 57,715,071 (-)NCBIHuRef
CHM1_12060,784,876 - 60,843,394 (-)NCBICHM1_1
Lama5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392179,818,166 - 179,868,092 (-)NCBIGRCm39mm39
GRCm39 Ensembl2179,818,166 - 179,867,652 (-)Ensembl
GRCm382180,176,373 - 180,225,904 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2180,176,373 - 180,225,859 (-)EnsemblGRCm38mm10GRCm38
MGSCv372179,911,078 - 179,960,564 (-)NCBIGRCm37mm9NCBIm37
MGSCv362180,105,781 - 180,155,267 (-)NCBImm8
Celera2184,258,583 - 184,308,017 (-)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2102.7NCBI
Lama5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23167,270,296 - 167,318,370 (-)NCBI
Rnor_6.0 Ensembl3175,553,045 - 175,601,127 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03175,553,042 - 175,601,112 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03181,517,512 - 181,565,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43169,233,897 - 169,282,410 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13169,144,153 - 169,145,258 (-)NCBI
Celera3165,261,840 - 165,309,879 (+)NCBICelera
Cytogenetic Map3q43NCBI
Lama5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555281,713,125 - 1,753,116 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555281,713,110 - 1,753,374 (+)NCBIChiLan1.0ChiLan1.0
LAMA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12059,991,859 - 60,052,486 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2059,992,130 - 60,055,765 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02058,673,850 - 58,677,760 (-)NCBIMhudiblu_PPA_v0panPan3
LAMA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12446,315,008 - 46,351,279 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2445,552,009 - 45,597,798 (-)NCBI
ROS_Cfam_1.02447,171,634 - 47,217,418 (-)NCBI
UMICH_Zoey_3.12446,272,834 - 46,318,659 (-)NCBI
UNSW_CanFamBas_1.02446,396,082 - 46,441,995 (-)NCBI
UU_Cfam_GSD_1.02447,150,451 - 47,196,224 (-)NCBI
Lama5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640194,474,591 - 194,519,778 (-)NCBI
SpeTri2.0NW_0049365149,928,234 - 9,973,425 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11761,698,370 - 61,747,795 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LAMA5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121,872,740 - 1,930,037 (+)NCBI
ChlSab1.1 Ensembl21,872,832 - 1,929,854 (+)Ensembl
Lama5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474128,156,956 - 28,217,133 (-)NCBI

Position Markers
RH17482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372060,884,179 - 60,884,310UniSTSGRCh37
Build 362060,317,574 - 60,317,705RGDNCBI36
Celera2057,619,328 - 57,619,459RGD
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2057,659,979 - 57,660,110UniSTS
GeneMap99-GB4 RH Map20353.99UniSTS
NCBI RH Map20583.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
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Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4425
Count of miRNA genes:1104
Interacting mature miRNAs:1389
Transcripts:ENST00000252999, ENST00000370677, ENST00000370691, ENST00000370692, ENST00000462415, ENST00000464134, ENST00000468786, ENST00000471042, ENST00000474128, ENST00000481120, ENST00000491036, ENST00000492698, ENST00000495695, ENST00000497053, ENST00000497363
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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
High 8
Medium 2337 2168 1491 405 588 249 3863 1689 2110 361 1318 1564 170 1204 2351 4
Low 97 437 230 217 772 216 488 502 1597 57 126 46 1 437 1
Below cutoff 2 384 1 573 5 3 19 1 6 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB010099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB011105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB067494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF443072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC085017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252999   ⟹   ENSP00000252999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,309,065 - 62,367,312 (-)Ensembl
RefSeq Acc Id: ENST00000370677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,345,414 - 62,367,270 (-)Ensembl
RefSeq Acc Id: ENST00000370691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,309,059 - 62,314,879 (-)Ensembl
RefSeq Acc Id: ENST00000462415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,311,257 - 62,312,146 (-)Ensembl
RefSeq Acc Id: ENST00000464134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,323,776 - 62,324,871 (-)Ensembl
RefSeq Acc Id: ENST00000468786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,313,180 - 62,313,580 (-)Ensembl
RefSeq Acc Id: ENST00000471042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,315,096 - 62,316,322 (-)Ensembl
RefSeq Acc Id: ENST00000474128   ⟹   ENSP00000420069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,334,302 - 62,337,626 (-)Ensembl
RefSeq Acc Id: ENST00000481120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,318,535 - 62,319,112 (-)Ensembl
RefSeq Acc Id: ENST00000491036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,311,930 - 62,312,961 (-)Ensembl
RefSeq Acc Id: ENST00000492698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,307,955 - 62,309,257 (-)Ensembl
RefSeq Acc Id: ENST00000495695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,309,145 - 62,310,412 (-)Ensembl
RefSeq Acc Id: ENST00000497053   ⟹   ENSP00000481814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,346,558 - 62,351,989 (-)Ensembl
RefSeq Acc Id: ENST00000497363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2062,325,140 - 62,326,631 (-)Ensembl
RefSeq Acc Id: NM_005560   ⟹   NP_005551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,309,065 - 62,367,312 (-)NCBI
GRCh372060,884,116 - 60,942,368 (-)NCBI
Build 362060,317,516 - 60,375,763 (-)NCBI Archive
HuRef2057,659,916 - 57,715,071 (-)NCBI
CHM1_12060,784,876 - 60,843,394 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006723796   ⟹   XP_006723859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,309,060 - 62,367,315 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006723798   ⟹   XP_006723861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,319,449 - 62,367,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528818   ⟹   XP_011527120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,309,060 - 62,367,315 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528819   ⟹   XP_011527121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,309,060 - 62,367,315 (-)NCBI
Sequence:
RefSeq Acc Id: XR_936532
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,309,065 - 62,367,316 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005551   ⟸   NM_005560
- Peptide Label: precursor
- UniProtKB: O15230 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006723859   ⟸   XM_006723796
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006723861   ⟸   XM_006723798
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011527121   ⟸   XM_011528819
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011527120   ⟸   XM_011528818
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000252999   ⟸   ENST00000252999
RefSeq Acc Id: ENSP00000481814   ⟸   ENST00000497053
RefSeq Acc Id: ENSP00000420069   ⟸   ENST00000474128
Promoters
RGD ID:6798837
Promoter ID:HG_KWN:40087
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000080019
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,321,031 - 60,321,982 (-)MPROMDB
RGD ID:6798836
Promoter ID:HG_KWN:40088
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000080018
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,322,991 - 60,323,782 (-)MPROMDB
RGD ID:6798833
Promoter ID:HG_KWN:40089
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000080015
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,333,181 - 60,334,082 (-)MPROMDB
RGD ID:6798835
Promoter ID:HG_KWN:40090
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000080017
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,360,431 - 60,361,132 (-)MPROMDB
RGD ID:6798834
Promoter ID:HG_KWN:40092
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000370677,   ENST00000370691,   ENST00000370692,   NM_005560
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,375,631 - 60,376,482 (-)MPROMDB
RGD ID:13602320
Promoter ID:EPDNEW_H27344
Type:initiation region
Name:LAMA5_3
Description:laminin subunit alpha 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27345  EPDNEW_H27346  EPDNEW_H27347  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,314,963 - 62,315,023EPDNEW
RGD ID:13602322
Promoter ID:EPDNEW_H27345
Type:initiation region
Name:LAMA5_1
Description:laminin subunit alpha 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27344  EPDNEW_H27346  EPDNEW_H27347  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,367,312 - 62,367,372EPDNEW
RGD ID:13602324
Promoter ID:EPDNEW_H27346
Type:initiation region
Name:LAMA5_4
Description:laminin subunit alpha 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27344  EPDNEW_H27345  EPDNEW_H27347  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,368,298 - 62,368,358EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_005560.4(LAMA5):c.10864G>A (p.Asp3622Asn) single nucleotide variant Malignant melanoma [RCV000072748] Chr20:62309800 [GRCh38]
Chr20:60884856 [GRCh37]
Chr20:60318251 [NCBI36]
Chr20:20q13.33
not provided
NM_005560.4(LAMA5):c.5160C>T (p.Thr1720=) single nucleotide variant Malignant melanoma [RCV000063788] Chr20:62326919 [GRCh38]
Chr20:60901975 [GRCh37]
Chr20:60335370 [NCBI36]
Chr20:20q13.33
not provided
NC_000020.10:g.(?_60831241)_(62664346_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316934]|Neuronal ceroid lipofuscinosis [RCV001316688] Chr20:60831241..62664346 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.2479C>T (p.Arg827Cys) single nucleotide variant Malignant tumor of prostate [RCV000149172] Chr20:62335024 [GRCh38]
Chr20:60910080 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1 copy number loss Ductal breast carcinoma [RCV000207130] Chr20:60882468..62045494 [GRCh37]
Chr20:20q13.33
uncertain significance
chr20:60885242-61929348 complex variant complex Ductal breast carcinoma [RCV000207152] Chr20:60885242..61929348 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.11053G>A (p.Gly3685Arg) single nucleotide variant not specified [RCV000372225] Chr20:62309371 [GRCh38]
Chr20:60884427 [GRCh37]
Chr20:20q13.33
likely benign|uncertain significance
NM_005560.5(LAMA5):c.5460C>T (p.Gly1820=) single nucleotide variant not provided [RCV000599121] Chr20:62325385 [GRCh38]
Chr20:60900441 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.6101A>G (p.Asp2034Gly) single nucleotide variant Short stature [RCV000736126] Chr20:62322722 [GRCh38]
Chr20:60897778 [GRCh37]
Chr20:20q13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.7132G>A (p.Glu2378Lys) single nucleotide variant not provided [RCV000482435] Chr20:62318561 [GRCh38]
Chr20:60893617 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.2240G>A (p.Arg747Gln) single nucleotide variant not provided [RCV000478409] Chr20:62336423 [GRCh38]
Chr20:60911479 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.3728C>T (p.Pro1243Leu) single nucleotide variant Familial hematuria [RCV000494691] Chr20:62330867 [GRCh38]
Chr20:60905923 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_005560.5(LAMA5):c.10726G>A (p.Glu3576Lys) single nucleotide variant Polymicrogyria [RCV000656107]|not provided [RCV000949857] Chr20:62310186 [GRCh38]
Chr20:60885242 [GRCh37]
Chr20:20q13.33
likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_005560.5(LAMA5):c.7114G>A (p.Asp2372Asn) single nucleotide variant Polymicrogyria [RCV000656108]|not provided [RCV000954193] Chr20:62318579 [GRCh38]
Chr20:60893635 [GRCh37]
Chr20:20q13.33
benign|likely benign|uncertain significance
GRCh37/hg19 20q13.33(chr20:60691126-60920798)x3 copy number gain not provided [RCV000684108] Chr20:60691126..60920798 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.1249A>T (p.Asn417Tyr) single nucleotide variant Short stature [RCV000736127] Chr20:62346539 [GRCh38]
Chr20:60921595 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.6226G>T (p.Ala2076Ser) single nucleotide variant Short stature [RCV000736130] Chr20:62322389 [GRCh38]
Chr20:60897445 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met) single nucleotide variant Short stature [RCV000736131]|not provided [RCV000919823] Chr20:62310789 [GRCh38]
Chr20:60885845 [GRCh37]
Chr20:20q13.33
likely pathogenic|likely benign
NM_005560.5(LAMA5):c.10433G>A (p.Ser3478Asn) single nucleotide variant Short stature [RCV000736125] Chr20:62310678 [GRCh38]
Chr20:60885734 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.6301G>A (p.Glu2101Lys) single nucleotide variant Short stature [RCV000736128] Chr20:62322314 [GRCh38]
Chr20:60897370 [GRCh37]
Chr20:20q13.33
likely pathogenic
NM_005560.5(LAMA5):c.3244C>A (p.Pro1082Thr) single nucleotide variant Short stature [RCV000736129] Chr20:62333128 [GRCh38]
Chr20:60908184 [GRCh37]
Chr20:20q13.33
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60872280-60908969)x3 copy number gain not provided [RCV000741339] Chr20:60872280..60908969 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60872280-60989527)x3 copy number gain not provided [RCV000741340] Chr20:60872280..60989527 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60872280-60990900)x3 copy number gain not provided [RCV000741341] Chr20:60872280..60990900 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891045-60899206)x1 copy number loss not provided [RCV000741342] Chr20:60891045..60899206 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891045-60899513)x1 copy number loss not provided [RCV000741343] Chr20:60891045..60899513 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891045-60899525)x1 copy number loss not provided [RCV000741344] Chr20:60891045..60899525 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891045-60900490)x1 copy number loss not provided [RCV000741345] Chr20:60891045..60900490 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891783-60899513)x1 copy number loss not provided [RCV000741346] Chr20:60891783..60899513 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891783-60900490)x1 copy number loss not provided [RCV000741347] Chr20:60891783..60900490 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60891783-60900578)x1 copy number loss not provided [RCV000741348] Chr20:60891783..60900578 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60892077-60900579)x1 copy number loss not provided [RCV000741349] Chr20:60892077..60900579 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:60892746-60901762)x1 copy number loss not provided [RCV000741350] Chr20:60892746..60901762 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_005560.6(LAMA5):c.638C>T (p.Ala213Val) single nucleotide variant not provided [RCV000962821] Chr20:62352291 [GRCh38]
Chr20:60927347 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9722C>A (p.Pro3241His) single nucleotide variant not provided [RCV000997793] Chr20:62311698 [GRCh38]
Chr20:60886754 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.8955+5G>A single nucleotide variant not provided [RCV000902690] Chr20:62313083 [GRCh38]
Chr20:60888139 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7461C>T (p.Ala2487=) single nucleotide variant not provided [RCV000929432] Chr20:62317395 [GRCh38]
Chr20:60892451 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.1541G>A (p.Arg514His) single nucleotide variant not provided [RCV000921490] Chr20:62338545 [GRCh38]
Chr20:60913601 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.11067C>T (p.Ala3689=) single nucleotide variant not provided [RCV000969740] Chr20:62309357 [GRCh38]
Chr20:60884413 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9733C>T (p.Leu3245Phe) single nucleotide variant not provided [RCV000969741] Chr20:62311687 [GRCh38]
Chr20:60886743 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.4251C>T (p.Ser1417=) single nucleotide variant not provided [RCV000967566] Chr20:62329040 [GRCh38]
Chr20:60904096 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9318G>A (p.Leu3106=) single nucleotide variant not provided [RCV000949442] Chr20:62312442 [GRCh38]
Chr20:60887498 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.9377C>T (p.Thr3126Ile) single nucleotide variant not provided [RCV000950022] Chr20:62312300 [GRCh38]
Chr20:60887356 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6760-5C>T single nucleotide variant not provided [RCV000879195] Chr20:62319800 [GRCh38]
Chr20:60894856 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7059G>A (p.Gln2353=) single nucleotide variant not provided [RCV000884369] Chr20:62318634 [GRCh38]
Chr20:60893690 [GRCh37]
Chr20:20q13.33
benign|likely benign
NM_005560.6(LAMA5):c.10002C>G (p.Leu3334=) single nucleotide variant not provided [RCV000879192] Chr20:62311248 [GRCh38]
Chr20:60886304 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8622C>T (p.Phe2874=) single nucleotide variant not provided [RCV000879194] Chr20:62313685 [GRCh38]
Chr20:60888741 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6762C>T (p.Ala2254=) single nucleotide variant not provided [RCV000892421] Chr20:62319793 [GRCh38]
Chr20:60894849 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6150C>T (p.Arg2050=) single nucleotide variant not provided [RCV000905742] Chr20:62322673 [GRCh38]
Chr20:60897729 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.5946C>T (p.Ser1982=) single nucleotide variant not provided [RCV000905743] Chr20:62323574 [GRCh38]
Chr20:60898630 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.4569C>T (p.Val1523=) single nucleotide variant not provided [RCV000879251] Chr20:62328324 [GRCh38]
Chr20:60903380 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.5148G>C (p.Leu1716=) single nucleotide variant not provided [RCV000906377] Chr20:62326931 [GRCh38]
Chr20:60901987 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7857C>T (p.Ala2619=) single nucleotide variant not provided [RCV000920516] Chr20:62315958 [GRCh38]
Chr20:60891014 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10997G>A (p.Arg3666Lys) single nucleotide variant not provided [RCV000948061] Chr20:62309427 [GRCh38]
Chr20:60884483 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.4754C>T (p.Ala1585Val) single nucleotide variant not provided [RCV000948064] Chr20:62327909 [GRCh38]
Chr20:60902965 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1891+8G>A single nucleotide variant not provided [RCV000948065] Chr20:62338008 [GRCh38]
Chr20:60913064 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1724C>T (p.Ala575Val) single nucleotide variant not provided [RCV000906430] Chr20:62338264 [GRCh38]
Chr20:60913320 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6982G>A (p.Ala2328Thr) single nucleotide variant not provided [RCV000966492] Chr20:62318903 [GRCh38]
Chr20:60893959 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.3885G>A (p.Thr1295=) single nucleotide variant not provided [RCV000905331] Chr20:62330582 [GRCh38]
Chr20:60905638 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6388C>T (p.Arg2130Cys) single nucleotide variant not provided [RCV000880237] Chr20:62322127 [GRCh38]
Chr20:60897183 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.7448G>A (p.Arg2483His) single nucleotide variant not provided [RCV000882692] Chr20:62317408 [GRCh38]
Chr20:60892464 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.3066C>T (p.Leu1022=) single nucleotide variant not provided [RCV000902137] Chr20:62333437 [GRCh38]
Chr20:60908493 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.10093A>G (p.Ser3365Gly) single nucleotide variant not provided [RCV000965479] Chr20:62311090 [GRCh38]
Chr20:60886146 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7647G>A (p.Thr2549=) single nucleotide variant not provided [RCV000943145] Chr20:62316888 [GRCh38]
Chr20:60891944 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.4695T>C (p.Ser1565=) single nucleotide variant not provided [RCV000976779] Chr20:62327968 [GRCh38]
Chr20:60903024 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.3283-8C>G single nucleotide variant not provided [RCV000883571] Chr20:62332725 [GRCh38]
Chr20:60907781 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.4757C>T (p.Pro1586Leu) single nucleotide variant not provided [RCV000882968] Chr20:62327906 [GRCh38]
Chr20:60902962 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.2588C>T (p.Ala863Val) single nucleotide variant not provided [RCV000882969] Chr20:62334337 [GRCh38]
Chr20:60909393 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1299C>T (p.Ser433=) single nucleotide variant not provided [RCV000882970] Chr20:62346199 [GRCh38]
Chr20:60921255 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7314C>T (p.Ala2438=) single nucleotide variant not provided [RCV000916022] Chr20:62317704 [GRCh38]
Chr20:60892760 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6553C>T (p.Leu2185Phe) single nucleotide variant not provided [RCV000904859] Chr20:62320834 [GRCh38]
Chr20:60895890 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.5(LAMA5):c.7975C>T (p.Arg2659Trp) single nucleotide variant Presynaptic congenital myasthenic syndrome [RCV001291038]|not provided [RCV000758707] Chr20:62315100 [GRCh38]
Chr20:60890156 [GRCh37]
Chr20:20q13.33
likely pathogenic|uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33
pathogenic
NM_005560.6(LAMA5):c.6798C>T (p.Ala2266=) single nucleotide variant not provided [RCV000907938] Chr20:62319757 [GRCh38]
Chr20:60894813 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.9390C>T (p.His3130=) single nucleotide variant not provided [RCV000888367] Chr20:62312287 [GRCh38]
Chr20:60887343 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6981G>A (p.Arg2327=) single nucleotide variant not provided [RCV000925162] Chr20:62318904 [GRCh38]
Chr20:60893960 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2919G>A (p.Thr973=) single nucleotide variant not provided [RCV000969743] Chr20:62333666 [GRCh38]
Chr20:60908722 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.10261C>A (p.Arg3421=) single nucleotide variant not provided [RCV000903069] Chr20:62310922 [GRCh38]
Chr20:60885978 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1281C>T (p.Arg427=) single nucleotide variant not provided [RCV000904328] Chr20:62346507 [GRCh38]
Chr20:60921563 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.5709G>A (p.Arg1903=) single nucleotide variant not provided [RCV000962819] Chr20:62324139 [GRCh38]
Chr20:60899195 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.10238G>A (p.Arg3413His) single nucleotide variant not provided [RCV000896065] Chr20:62310945 [GRCh38]
Chr20:60886001 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10968C>T (p.Pro3656=) single nucleotide variant not provided [RCV000918274] Chr20:62309456 [GRCh38]
Chr20:60884512 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6024C>T (p.Pro2008=) single nucleotide variant not provided [RCV000969742] Chr20:62323496 [GRCh38]
Chr20:60898552 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.207_215del (p.Ala70_Gly72del) deletion not provided [RCV000962837] Chr20:62367031..62367039 [GRCh38]
Chr20:60942087..60942095 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7926C>T (p.Thr2642=) single nucleotide variant not provided [RCV000915979] Chr20:62315149 [GRCh38]
Chr20:60890205 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.4678C>T (p.Arg1560Cys) single nucleotide variant not provided [RCV000899250] Chr20:62327985 [GRCh38]
Chr20:60903041 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.5203G>A (p.Val1735Met) single nucleotide variant not provided [RCV000880058] Chr20:62326876 [GRCh38]
Chr20:60901932 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.4120-7C>T single nucleotide variant not provided [RCV000943803] Chr20:62329260 [GRCh38]
Chr20:60904316 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2412C>T (p.Cys804=) single nucleotide variant not provided [RCV000895102] Chr20:62335091 [GRCh38]
Chr20:60910147 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10840G>C (p.Gly3614Arg) single nucleotide variant not provided [RCV000963209] Chr20:62309824 [GRCh38]
Chr20:60884880 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8048-8C>G single nucleotide variant not provided [RCV000969124] Chr20:62314955 [GRCh38]
Chr20:60890011 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.2285T>G (p.Phe762Cys) single nucleotide variant not provided [RCV000909458] Chr20:62336378 [GRCh38]
Chr20:60911434 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.8857C>T (p.Arg2953Cys) single nucleotide variant not provided [RCV000894175] Chr20:62313186 [GRCh38]
Chr20:60888242 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.4947T>C (p.Asp1649=) single nucleotide variant not provided [RCV000982751] Chr20:62327398 [GRCh38]
Chr20:60902454 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2049C>G (p.Gly683=) single nucleotide variant not provided [RCV000961231] Chr20:62337705 [GRCh38]
Chr20:60912761 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7434G>A (p.Ala2478=) single nucleotide variant not provided [RCV000896716] Chr20:62317422 [GRCh38]
Chr20:60892478 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2829C>T (p.Ser943=) single nucleotide variant not provided [RCV000971831] Chr20:62333950 [GRCh38]
Chr20:60909006 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6740C>T (p.Ala2247Val) single nucleotide variant not provided [RCV000884650] Chr20:62320578 [GRCh38]
Chr20:60895634 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9938G>A (p.Arg3313Gln) single nucleotide variant not provided [RCV000879193] Chr20:62311405 [GRCh38]
Chr20:60886461 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9033C>T (p.Ala3011=) single nucleotide variant not provided [RCV000948062] Chr20:62312933 [GRCh38]
Chr20:60887989 [GRCh37]
Chr20:20q13.33
benign
NM_005560.5(LAMA5):c.9418G>A (p.Val3140Met) single nucleotide variant not provided [RCV000758708] Chr20:62312259 [GRCh38]
Chr20:60887315 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.1134C>T (p.Arg378=) single nucleotide variant not provided [RCV000914236] Chr20:62346739 [GRCh38]
Chr20:60921795 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8091G>C (p.Leu2697=) single nucleotide variant not provided [RCV000961229] Chr20:62314904 [GRCh38]
Chr20:60889960 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7656G>C (p.Thr2552=) single nucleotide variant not provided [RCV000961230] Chr20:62316771 [GRCh38]
Chr20:60891827 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6637G>A (p.Ala2213Thr) single nucleotide variant not provided [RCV000898708] Chr20:62320750 [GRCh38]
Chr20:60895806 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8070G>A (p.Leu2690=) single nucleotide variant not provided [RCV000916276] Chr20:62314925 [GRCh38]
Chr20:60889981 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.5(LAMA5):c.6221C>T (p.Pro2074Leu) single nucleotide variant Severe Myopia [RCV000785728] Chr20:62322394 [GRCh38]
Chr20:60897450 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.950C>T (p.Pro317Leu) single nucleotide variant not provided [RCV000962820] Chr20:62351710 [GRCh38]
Chr20:60926766 [GRCh37]
Chr20:20q13.33
benign
NM_005560.5(LAMA5):c.2239C>T (p.Arg747Trp) single nucleotide variant Nephrotic syndrome [RCV000845201] Chr20:62336424 [GRCh38]
Chr20:60911480 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.3002A>G (p.Glu1001Gly) single nucleotide variant Nephrotic syndrome [RCV000845202] Chr20:62333583 [GRCh38]
Chr20:60908639 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.5(LAMA5):c.8842G>A (p.Gly2948Ser) single nucleotide variant Nephrotic syndrome [RCV000845203] Chr20:62313201 [GRCh38]
Chr20:60888257 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.7211G>C (p.Arg2404Pro) single nucleotide variant not provided [RCV000897228] Chr20:62318482 [GRCh38]
Chr20:60893538 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8665C>T (p.Pro2889Ser) single nucleotide variant not provided [RCV000964048] Chr20:62313454 [GRCh38]
Chr20:60888510 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10735-3_10735-2insCCCTTCCTACCCCT insertion not provided [RCV000997792] Chr20:62310083..62310084 [GRCh38]
Chr20:60885139..60885140 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.6952G>A (p.Glu2318Lys) single nucleotide variant not provided [RCV001090868] Chr20:62318933 [GRCh38]
Chr20:60893989 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.3252C>T (p.His1084=) single nucleotide variant not provided [RCV000914504] Chr20:62333120 [GRCh38]
Chr20:60908176 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8368-5C>T single nucleotide variant not provided [RCV001172146] Chr20:62314445 [GRCh38]
Chr20:60889501 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.7112G>A (p.Arg2371His) single nucleotide variant not provided [RCV001090867] Chr20:62318581 [GRCh38]
Chr20:60893637 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6543C>T (p.Ala2181=) single nucleotide variant not provided [RCV000895704] Chr20:62320844 [GRCh38]
Chr20:60895900 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.3318A>G (p.Pro1106=) single nucleotide variant not provided [RCV000899913] Chr20:62332682 [GRCh38]
Chr20:60907738 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.7179C>T (p.Asp2393=) single nucleotide variant not provided [RCV000894620] Chr20:62318514 [GRCh38]
Chr20:60893570 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1638T>C (p.Pro546=) single nucleotide variant not provided [RCV000887193] Chr20:62338350 [GRCh38]
Chr20:60913406 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2382C>T (p.Thr794=) single nucleotide variant not provided [RCV000965480] Chr20:62335121 [GRCh38]
Chr20:60910177 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.2126C>T (p.Thr709Ile) single nucleotide variant not provided [RCV000965481] Chr20:62337628 [GRCh38]
Chr20:60912684 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.501G>A (p.Pro167=) single nucleotide variant not provided [RCV000887204] Chr20:62353201 [GRCh38]
Chr20:60928257 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.3655G>A (p.Ala1219Thr) single nucleotide variant not provided [RCV000898709] Chr20:62330940 [GRCh38]
Chr20:60905996 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.2349A>G (p.Thr783=) single nucleotide variant not provided [RCV000907777] Chr20:62335244 [GRCh38]
Chr20:60910300 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.7575C>T (p.Tyr2525=) single nucleotide variant not provided [RCV000930465] Chr20:62316960 [GRCh38]
Chr20:60892016 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10948+8C>T single nucleotide variant not provided [RCV000887291] Chr20:62309708 [GRCh38]
Chr20:60884764 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10464C>T (p.Ser3488=) single nucleotide variant not provided [RCV000963031] Chr20:62310555 [GRCh38]
Chr20:60885611 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.8521C>T (p.His2841Tyr) single nucleotide variant not provided [RCV000914503] Chr20:62313786 [GRCh38]
Chr20:60888842 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.10453G>A (p.Val3485Ile) single nucleotide variant not provided [RCV000967565] Chr20:62310566 [GRCh38]
Chr20:60885622 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2007C>T (p.His669=) single nucleotide variant not provided [RCV000967567] Chr20:62337823 [GRCh38]
Chr20:60912879 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7118G>A (p.Arg2373Gln) single nucleotide variant not provided [RCV000974151] Chr20:62318575 [GRCh38]
Chr20:60893631 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9636-10C>T single nucleotide variant not provided [RCV000887483] Chr20:62311794 [GRCh38]
Chr20:60886850 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.5713G>A (p.Asp1905Asn) single nucleotide variant not provided [RCV000974456] Chr20:62324135 [GRCh38]
Chr20:60899191 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.5513G>A (p.Arg1838Gln) single nucleotide variant not provided [RCV000894660] Chr20:62325332 [GRCh38]
Chr20:60900388 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.5907C>T (p.Cys1969=) single nucleotide variant not provided [RCV000948063] Chr20:62323613 [GRCh38]
Chr20:60898669 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.10877A>G (p.Asn3626Ser) single nucleotide variant not provided [RCV000909403] Chr20:62309787 [GRCh38]
Chr20:60884843 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.3060G>A (p.Ala1020=) single nucleotide variant not provided [RCV000915185] Chr20:62333443 [GRCh38]
Chr20:60908499 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6819C>A (p.Gly2273=) single nucleotide variant not provided [RCV000897229] Chr20:62319736 [GRCh38]
Chr20:60894792 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7888G>A (p.Ala2630Thr) single nucleotide variant not provided [RCV000904073] Chr20:62315187 [GRCh38]
Chr20:60890243 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.4311A>T (p.Pro1437=) single nucleotide variant not provided [RCV000959794] Chr20:62328980 [GRCh38]
Chr20:60904036 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.8832C>T (p.Ser2944=) single nucleotide variant not provided [RCV000887710] Chr20:62313211 [GRCh38]
Chr20:60888267 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.5790G>A (p.Leu1930=) single nucleotide variant not provided [RCV000887711] Chr20:62323835 [GRCh38]
Chr20:60898891 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.2367G>A (p.Glu789=) single nucleotide variant not provided [RCV000960993] Chr20:62335226 [GRCh38]
Chr20:60910282 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1789G>A (p.Glu597Lys) single nucleotide variant not provided [RCV000894176] Chr20:62338118 [GRCh38]
Chr20:60913174 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.3538G>T (p.Ala1180Ser) single nucleotide variant not provided [RCV000962742] Chr20:62332386 [GRCh38]
Chr20:60907442 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.5124C>T (p.Tyr1708=) single nucleotide variant not provided [RCV000899610] Chr20:62326955 [GRCh38]
Chr20:60902011 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.3295C>T (p.Leu1099Phe) single nucleotide variant not provided [RCV000899611] Chr20:62332705 [GRCh38]
Chr20:60907761 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1478-4C>G single nucleotide variant not provided [RCV000907583] Chr20:62338612 [GRCh38]
Chr20:60913668 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7131C>T (p.His2377=) single nucleotide variant not provided [RCV000982514] Chr20:62318562 [GRCh38]
Chr20:60893618 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.8793-9G>A single nucleotide variant not provided [RCV000880773] Chr20:62313259 [GRCh38]
Chr20:60888315 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7374C>T (p.Ala2458=) single nucleotide variant not provided [RCV000971440] Chr20:62317482 [GRCh38]
Chr20:60892538 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.5627G>T (p.Gly1876Val) single nucleotide variant not provided [RCV000963048] Chr20:62324457 [GRCh38]
Chr20:60899513 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.9063C>T (p.Thr3021=) single nucleotide variant not provided [RCV000974455] Chr20:62312903 [GRCh38]
Chr20:60887959 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.10868C>T (p.Ala3623Val) single nucleotide variant not provided [RCV000955048] Chr20:62309796 [GRCh38]
Chr20:60884852 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.4652+7G>A single nucleotide variant not provided [RCV001172147] Chr20:62328234 [GRCh38]
Chr20:60903290 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.6577C>T (p.Arg2193Cys) single nucleotide variant not provided [RCV001090869] Chr20:62320810 [GRCh38]
Chr20:60895866 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.7305C>T (p.Asp2435=) single nucleotide variant not provided [RCV000955587] Chr20:62317713 [GRCh38]
Chr20:60892769 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7138G>A (p.Gly2380Ser) single nucleotide variant not provided [RCV000955588] Chr20:62318555 [GRCh38]
Chr20:60893611 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.3027C>T (p.Tyr1009=) single nucleotide variant not provided [RCV000891423] Chr20:62333476 [GRCh38]
Chr20:60908532 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.2583-8G>T single nucleotide variant not provided [RCV000997794] Chr20:62334350 [GRCh38]
Chr20:60909406 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.9943-8G>T single nucleotide variant not provided [RCV000889292] Chr20:62311315 [GRCh38]
Chr20:60886371 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6887C>T (p.Thr2296Met) single nucleotide variant not provided [RCV000889293] Chr20:62318998 [GRCh38]
Chr20:60894054 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.5772C>T (p.Phe1924=) single nucleotide variant not provided [RCV000911335] Chr20:62323853 [GRCh38]
Chr20:60898909 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6282C>T (p.Thr2094=) single nucleotide variant not provided [RCV000933766] Chr20:62322333 [GRCh38]
Chr20:60897389 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.7698G>A (p.Leu2566=) single nucleotide variant not provided [RCV000913784] Chr20:62316729 [GRCh38]
Chr20:60891785 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.11007G>A (p.Ala3669=) single nucleotide variant not provided [RCV000958104] Chr20:62309417 [GRCh38]
Chr20:60884473 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.1443C>T (p.Thr481=) single nucleotide variant not provided [RCV000958257] Chr20:62345852 [GRCh38]
Chr20:60920908 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6754G>A (p.Gly2252Ser) single nucleotide variant not provided [RCV000912587] Chr20:62320564 [GRCh38]
Chr20:60895620 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.10770C>T (p.Phe3590=) single nucleotide variant not provided [RCV000934478] Chr20:62310046 [GRCh38]
Chr20:60885102 [GRCh37]
Chr20:20q13.33
likely benign
NM_005560.6(LAMA5):c.8898C>T (p.Phe2966=) single nucleotide variant not provided [RCV000957465] Chr20:62313145 [GRCh38]
Chr20:60888201 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.6165+6del deletion not provided [RCV000891233] Chr20:62322652 [GRCh38]
Chr20:60897708 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7052G>A (p.Arg2351Gln) single nucleotide variant not provided [RCV000955589] Chr20:62318641 [GRCh38]
Chr20:60893697 [GRCh37]
Chr20:20q13.33
benign
NM_005560.6(LAMA5):c.7137C>T (p.Ala2379=) single nucleotide variant not provided [RCV000955846] Chr20:62318556 [GRCh38]
Chr20:60893612 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33
pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33
pathogenic
NM_005560.6(LAMA5):c.10013G>A (p.Arg3338Gln) single nucleotide variant not provided [RCV001090866] Chr20:62311237 [GRCh38]
Chr20:60886293 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.8356G>A (p.Gly2786Ser) single nucleotide variant not specified [RCV001251310] Chr20:62314566 [GRCh38]
Chr20:60889622 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) single nucleotide variant Congenital omphalocele [RCV001267708] Chr20:62351910 [GRCh38]
Chr20:60926966 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys) single nucleotide variant Holoprosencephaly sequence [RCV001257379] Chr20:62324168 [GRCh38]
Chr20:60899224 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.5635G>A (p.Val1879Ile) single nucleotide variant Holoprosencephaly sequence [RCV001257401] Chr20:62324449 [GRCh38]
Chr20:60899505 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.3859G>A (p.Val1287Met) single nucleotide variant not provided [RCV001345123] Chr20:62330608 [GRCh38]
Chr20:60905664 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_005560.6(LAMA5):c.6206C>T (p.Pro2069Leu) single nucleotide variant not provided [RCV001311994] Chr20:62322409 [GRCh38]
Chr20:60897465 [GRCh37]
Chr20:20q13.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6485 AgrOrtholog
COSMIC LAMA5 COSMIC
Ensembl Genes ENSG00000130702 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000252999 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420069 UniProtKB/TrEMBL
  ENSP00000481814 UniProtKB/TrEMBL
Ensembl Transcript ENST00000252999 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000474128 UniProtKB/TrEMBL
  ENST00000497053 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130702 GTEx
HGNC ID HGNC:6485 ENTREZGENE
Human Proteome Map LAMA5 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  Laminin_aI UniProtKB/Swiss-Prot
  Laminin_dom_II UniProtKB/Swiss-Prot
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot
  Laminin_IV UniProtKB/Swiss-Prot
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot
KEGG Report hsa:3911 UniProtKB/Swiss-Prot
NCBI Gene 3911 ENTREZGENE
OMIM 601033 OMIM
Pfam Laminin_B UniProtKB/Swiss-Prot
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot
  Laminin_I UniProtKB/Swiss-Prot
  Laminin_II UniProtKB/Swiss-Prot
  Laminin_N UniProtKB/Swiss-Prot
PharmGKB PA30274 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_2 UniProtKB/Swiss-Prot
  LAM_G_DOMAIN UniProtKB/Swiss-Prot
  LAMININ_IVA UniProtKB/Swiss-Prot
  LAMININ_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot
  EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamB UniProtKB/Swiss-Prot
  LamG UniProtKB/Swiss-Prot
  LamNT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot
UniProt A0A087WYH7_HUMAN UniProtKB/TrEMBL
  H7C5J6_HUMAN UniProtKB/TrEMBL
  L8EAG2_HUMAN UniProtKB/TrEMBL
  LAMA5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5U4N9 UniProtKB/Swiss-Prot
  Q8TDF8 UniProtKB/Swiss-Prot
  Q8WZA7 UniProtKB/Swiss-Prot
  Q9H1P1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LAMA5  laminin subunit alpha 5  LAMA5  laminin, alpha 5  Symbol and/or name change 5135510 APPROVED