LMAN1 (lectin, mannose binding 1) - Rat Genome Database

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Gene: LMAN1 (lectin, mannose binding 1) Homo sapiens
Analyze
Symbol: LMAN1
Name: lectin, mannose binding 1
RGD ID: 732234
HGNC Page HGNC:6631
Description: Enables metal ion binding activity. Involved in Golgi organization and positive regulation of organelle organization. Located in endoplasmic reticulum and endoplasmic reticulum-Golgi intermediate compartment. Implicated in factor V deficiency and factor XIII deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endoplasmic reticulum-golgi intermediate compartment protein 53; ER-Golgi intermediate compartment 53 kDa protein; ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58; intracellular mannose specific lectin; intracellular mannose-specific lectin MR60; lectin mannose-binding 1; lectin, mannose-binding, 1; MCFD1; MR60
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,327,823 - 59,359,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,327,823 - 59,359,265 (-)EnsemblGRCh38hg38GRCh38
GRCh371856,995,055 - 57,026,497 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,148,088 - 55,177,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 341855,148,087 - 55,177,461NCBI
Celera1853,712,874 - 53,744,326 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,704,319 - 53,735,757 (-)NCBIHuRef
CHM1_11856,990,302 - 57,021,756 (-)NCBICHM1_1
T2T-CHM13v2.01859,529,314 - 59,560,731 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
clofibrate  (ISO)
cyclosporin A  (EXP)
dimethylarsinic acid  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
geldanamycin  (EXP)
glafenine  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hexachlorobenzene  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
mercury dibromide  (EXP)
Mesaconitine  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP,ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Nichols WC, etal., Cell. 1998 Apr 3;93(1):61-70.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7876089   PMID:8125298   PMID:8205612   PMID:8223692   PMID:8267903   PMID:8666845   PMID:8854877   PMID:9245995   PMID:9774442   PMID:10090935   PMID:10725420   PMID:11333866  
PMID:11561111   PMID:11607788   PMID:11840567   PMID:11992290   PMID:12175909   PMID:12477932   PMID:12487819   PMID:12560567   PMID:12665801   PMID:12672193   PMID:12717434   PMID:12727195  
PMID:12941144   PMID:14593599   PMID:14629470   PMID:14732744   PMID:15117939   PMID:15145932   PMID:15166951   PMID:15292203   PMID:15308636   PMID:15489334   PMID:15572157   PMID:15632110  
PMID:15716605   PMID:15728497   PMID:15886209   PMID:16044454   PMID:16054885   PMID:16114131   PMID:16257008   PMID:16304051   PMID:16670774   PMID:16735443   PMID:16938437   PMID:17010120  
PMID:17496053   PMID:17535801   PMID:17805346   PMID:17971482   PMID:18025080   PMID:18287528   PMID:18391077   PMID:18508857   PMID:18577465   PMID:18974842   PMID:19118014   PMID:19199708  
PMID:19322201   PMID:19342655   PMID:19380618   PMID:19401338   PMID:19423540   PMID:19787799   PMID:19913121   PMID:19946888   PMID:20007547   PMID:20138881   PMID:20142513   PMID:20237496  
PMID:20406964   PMID:20438785   PMID:20460353   PMID:20628086   PMID:21525244   PMID:21757827   PMID:21832049   PMID:21873635   PMID:22190034   PMID:22337587   PMID:22764119   PMID:22939629  
PMID:23709226   PMID:23852824   PMID:24237698   PMID:24270810   PMID:24498414   PMID:24806965   PMID:25037231   PMID:25544563   PMID:25664598   PMID:25921289   PMID:26150355   PMID:26344197  
PMID:26638075   PMID:27173435   PMID:27342126   PMID:27375898   PMID:27432908   PMID:27880917   PMID:28097447   PMID:28366632   PMID:28514442   PMID:28675297   PMID:28675934   PMID:28685749  
PMID:28692057   PMID:29082580   PMID:29180619   PMID:29395067   PMID:29507755   PMID:29568061   PMID:29679592   PMID:30097533   PMID:30194290   PMID:30397336   PMID:30463901   PMID:30728747  
PMID:30884312   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31142615   PMID:31536960   PMID:31586073   PMID:31732153   PMID:31871319   PMID:32235678   PMID:32423001  
PMID:32687490   PMID:32788342   PMID:32877691   PMID:32913203   PMID:32941674   PMID:32994395   PMID:33024031   PMID:33060197   PMID:33545068   PMID:33766124   PMID:33845483   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34189442   PMID:34226595   PMID:34349018   PMID:34432599   PMID:34597346   PMID:34709266   PMID:34709727   PMID:34766420   PMID:34779586   PMID:35007762  
PMID:35256949   PMID:35271311   PMID:35322856   PMID:35384245   PMID:35509820   PMID:35696571   PMID:35944360   PMID:36042349   PMID:36180527   PMID:36215168   PMID:36217030   PMID:36225252  
PMID:36527092   PMID:36610398   PMID:36779763   PMID:36870056   PMID:36966971   PMID:37120454   PMID:37223481   PMID:37774976   PMID:37827155   PMID:37931956   PMID:38569033   PMID:39147351  
PMID:39231216  


Genomics

Comparative Map Data
LMAN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,327,823 - 59,359,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,327,823 - 59,359,265 (-)EnsemblGRCh38hg38GRCh38
GRCh371856,995,055 - 57,026,497 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,148,088 - 55,177,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 341855,148,087 - 55,177,461NCBI
Celera1853,712,874 - 53,744,326 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,704,319 - 53,735,757 (-)NCBIHuRef
CHM1_11856,990,302 - 57,021,756 (-)NCBICHM1_1
T2T-CHM13v2.01859,529,314 - 59,560,731 (-)NCBIT2T-CHM13v2.0
Lman1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,113,810 - 66,135,706 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1866,113,809 - 66,155,651 (-)EnsemblGRCm39 Ensembl
GRCm381865,980,739 - 66,002,635 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1865,980,738 - 66,022,580 (-)EnsemblGRCm38mm10GRCm38
MGSCv371866,140,393 - 66,162,289 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361866,106,123 - 66,127,980 (-)NCBIMGSCv36mm8
Celera1867,256,677 - 67,278,706 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.08NCBI
Lman1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81861,778,971 - 61,800,960 (-)NCBIGRCr8
mRatBN7.21859,508,996 - 59,530,873 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1859,508,996 - 59,530,851 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1861,604,527 - 61,624,705 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01862,303,213 - 62,323,391 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01860,131,092 - 60,151,186 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01861,683,377 - 61,707,344 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1861,685,117 - 61,707,317 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01860,880,943 - 60,901,877 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41862,504,296 - 62,524,151 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11862,577,496 - 62,597,352 (+)NCBI
Celera1857,631,372 - 57,651,369 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Lman1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540243,464,722 - 43,496,048 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540243,465,556 - 43,495,789 (-)NCBIChiLan1.0ChiLan1.0
LMAN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21776,873,237 - 76,904,670 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11862,565,851 - 62,597,200 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01852,722,735 - 52,754,013 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11856,049,292 - 56,080,531 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1856,049,292 - 56,080,533 (-)Ensemblpanpan1.1panPan2
LMAN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1116,869,106 - 16,897,911 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl116,869,121 - 16,894,786 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha117,844,723 - 17,873,524 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0116,746,349 - 16,775,132 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl116,746,354 - 16,773,529 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1116,781,955 - 16,810,766 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0116,702,460 - 16,731,329 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0116,964,186 - 16,993,012 (+)NCBIUU_Cfam_GSD_1.0
Lman1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494430,144,591 - 30,169,193 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364975,383,524 - 5,408,452 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364975,383,636 - 5,409,347 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LMAN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1161,607,143 - 161,631,651 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11161,607,122 - 161,631,650 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21179,184,985 - 179,209,552 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LMAN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11820,377,259 - 20,409,565 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1820,377,255 - 20,409,741 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660605,179,049 - 5,212,921 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lman1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247924,732,446 - 4,776,041 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247924,732,476 - 4,775,946 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LMAN1
153 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005570.4(LMAN1):c.89dup (p.Asp31fs) duplication Factor V and factor VIII, combined deficiency of, type 1 [RCV000008528] Chr18:59359155..59359156 [GRCh38]
Chr18:57026387..57026388 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_005570.4(LMAN1):c.1149+2T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000008529] Chr18:59338758 [GRCh38]
Chr18:57005990 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_005570.4(LMAN1):c.796del (p.Gln266fs) deletion Factor V and factor VIII, combined deficiency of, type 1 [RCV000008530] Chr18:59347539 [GRCh38]
Chr18:57014771 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) deletion Factor V and factor VIII, combined deficiency of, type 1 [RCV000008531]|LMAN1-related disorder [RCV003398471] Chr18:59333109 [GRCh38]
Chr18:57000341 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000008532] Chr18:59359243 [GRCh38]
Chr18:57026475 [GRCh37]
Chr18:18q21.32		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1		 pathogenic
NM_005570.3(LMAN1):c.648C>T (p.Ile216=) single nucleotide variant Malignant melanoma [RCV000063398] Chr18:59349228 [GRCh38]
Chr18:57016460 [GRCh37]
Chr18:55167440 [NCBI36]
Chr18:18q21.32		 not provided
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3 copy number gain See cases [RCV000136915] Chr18:58939804..59720672 [GRCh38]
Chr18:56607036..57387904 [GRCh37]
Chr18:54758016..55538884 [NCBI36]
Chr18:18q21.32		 uncertain significance
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005570.4(LMAN1):c.116T>C (p.Val39Ala) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000387764]|not provided [RCV001610664]|not specified [RCV000246141] Chr18:59359129 [GRCh38]
Chr18:57026361 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000366036]|not provided [RCV001689855]|not specified [RCV000251037] Chr18:59333237 [GRCh38]
Chr18:59333237..59333238 [GRCh38]
Chr18:57000469 [GRCh37]
Chr18:57000469..57000470 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.351A>G (p.Arg117=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000278265]|not provided [RCV001722322]|not specified [RCV000251338] Chr18:59355522 [GRCh38]
Chr18:57022754 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.399G>A (p.Leu133=) single nucleotide variant not provided [RCV004717116]|not specified [RCV000241711] Chr18:59355391 [GRCh38]
Chr18:57022623 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.539+5GT[3] microsatellite Factor V and factor VIII, combined deficiency of, type 1 [RCV000283539]|not provided [RCV001683053]|not specified [RCV000246703] Chr18:59354507..59354508 [GRCh38]
Chr18:57021739..57021740 [GRCh37]
Chr18:18q21.32		 benign|likely benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_005570.4(LMAN1):c.1374+20C>T single nucleotide variant not provided [RCV001610665]|not specified [RCV000243042] Chr18:59333071 [GRCh38]
Chr18:57000303 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1461G>A (p.Val487=) single nucleotide variant not provided [RCV004717115]|not specified [RCV000247996] Chr18:59331453 [GRCh38]
Chr18:56998685 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.*2923C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000290780] Chr18:59328170 [GRCh38]
Chr18:56995402 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1616A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000274189] Chr18:59329477 [GRCh38]
Chr18:56996709 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2044A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000298613] Chr18:59329049 [GRCh38]
Chr18:56996281 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2217G>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000357073]|not provided [RCV004717156] Chr18:59328876 [GRCh38]
Chr18:56996108 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*939C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000392671] Chr18:59330154 [GRCh38]
Chr18:56997386 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1221-4T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000271673]|LMAN1-related disorder [RCV003957674] Chr18:59333248 [GRCh38]
Chr18:57000480 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.663A>G (p.Thr221=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000323349] Chr18:59349213 [GRCh38]
Chr18:57016445 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000311386]|Inborn genetic diseases [RCV002521174] Chr18:59333146 [GRCh38]
Chr18:57000378 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.846G>A (p.Ser282=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000362712] Chr18:59346028 [GRCh38]
Chr18:57013260 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*57G>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000314982]|not provided [RCV004694412] Chr18:59331036 [GRCh38]
Chr18:56998268 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.27C>G (p.Leu9=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000348339]|LMAN1-related disorder [RCV003912368] Chr18:59359218 [GRCh38]
Chr18:57026450 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.539+3A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000319897] Chr18:59354516 [GRCh38]
Chr18:57021748 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1799A>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000368787]|not provided [RCV004717158] Chr18:59329294 [GRCh38]
Chr18:56996526 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*48G>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000369393] Chr18:59331045 [GRCh38]
Chr18:56998277 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*490C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000280859] Chr18:59330603 [GRCh38]
Chr18:56997835 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.478-15T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000374608] Chr18:59354595 [GRCh38]
Chr18:57021827 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1298A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000284024] Chr18:59329795 [GRCh38]
Chr18:56997027 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1332C>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000323910] Chr18:59329761 [GRCh38]
Chr18:56996993 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000326778]|LMAN1-related disorder [RCV003922394] Chr18:59338859 [GRCh38]
Chr18:57006091 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.*1565C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000327565] Chr18:59329528 [GRCh38]
Chr18:56996760 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000402728]|not provided [RCV003422299] Chr18:59331522 [GRCh38]
Chr18:56998754 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.*2387A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000403522]|not provided [RCV004717155] Chr18:59328706 [GRCh38]
Chr18:56995938 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*1390T>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000287630] Chr18:59329703 [GRCh38]
Chr18:56996935 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1822G>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000332666] Chr18:59329271 [GRCh38]
Chr18:56996503 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*2929T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000385215]|not provided [RCV004717153] Chr18:59328164 [GRCh38]
Chr18:56995396 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.214+7C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000335623] Chr18:59359024 [GRCh38]
Chr18:57026256 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.*1168C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000338942] Chr18:59329925 [GRCh38]
Chr18:56997157 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*164A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000392659]|not provided [RCV004703751] Chr18:59330929 [GRCh38]
Chr18:56998161 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.*1970T>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000277660] Chr18:59329123 [GRCh38]
Chr18:56996355 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.-5C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000408195] Chr18:59359249 [GRCh38]
Chr18:57026481 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.41G>A (p.Arg14Gln) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000295723]|not provided [RCV004717159] Chr18:59359204 [GRCh38]
Chr18:57026436 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*2405C>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000342158]|not provided [RCV004717154] Chr18:59328688 [GRCh38]
Chr18:56995920 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*2893G>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000345869] Chr18:59328200 [GRCh38]
Chr18:56995432 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*3107T>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000348290] Chr18:59327986 [GRCh38]
Chr18:56995218 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.*2063C>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000403750]|not provided [RCV004717157] Chr18:59329030 [GRCh38]
Chr18:56996262 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000268134]|not provided [RCV004703752] Chr18:59347514 [GRCh38]
Chr18:57014746 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_005570.4(LMAN1):c.*2259A>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000302584] Chr18:59328834 [GRCh38]
Chr18:56996066 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1452_*1455del deletion Factor V and factor VIII, combined deficiency of, type 1 [RCV000382184] Chr18:59329638..59329641 [GRCh38]
Chr18:56996870..56996873 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*424T>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000335879] Chr18:59330669 [GRCh38]
Chr18:56997901 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1988C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000353524] Chr18:59329105 [GRCh38]
Chr18:56996337 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2602G>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000287140] Chr18:59328491 [GRCh38]
Chr18:56995723 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2650G>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000392174] Chr18:59328443 [GRCh38]
Chr18:56995675 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000377974] Chr18:59353301 [GRCh38]
Chr18:57020533 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1305A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000378483] Chr18:59329788 [GRCh38]
Chr18:56997020 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.32(chr18:56589023-57506331)x3 copy number gain See cases [RCV000445786] Chr18:56589023..57506331 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56623382-57545665)x3 copy number gain See cases [RCV000511151] Chr18:56623382..57545665 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005570.4(LMAN1):c.946G>A (p.Gly316Arg) single nucleotide variant Inborn genetic diseases [RCV003274439] Chr18:59345928 [GRCh38]
Chr18:57013160 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56590414-57506331)x3 copy number gain not provided [RCV000684015] Chr18:56590414..57506331 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_005570.4(LMAN1):c.823-159del deletion not provided [RCV001691101] Chr18:59346210 [GRCh38]
Chr18:57013442 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1220+134A>G single nucleotide variant not provided [RCV001649077] Chr18:59338423 [GRCh38]
Chr18:57005655 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.822+32C>A single nucleotide variant not provided [RCV001641051] Chr18:59347481 [GRCh38]
Chr18:57014713 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala) single nucleotide variant Factor V deficiency [RCV000984329] Chr18:59338599 [GRCh38]
Chr18:57005831 [GRCh37]
Chr18:18q21.32		 pathogenic|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_005570.4(LMAN1):c.1438C>T (p.His480Tyr) single nucleotide variant Inborn genetic diseases [RCV003288974] Chr18:59331476 [GRCh38]
Chr18:56998708 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV000852241] Chr18:59345970 [GRCh38]
Chr18:57013202 [GRCh37]
Chr18:18q21.32		 likely pathogenic
NM_005570.4(LMAN1):c.*480A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127204] Chr18:59330613 [GRCh38]
Chr18:56997845 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127309] Chr18:59353203 [GRCh38]
Chr18:57020435 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.597T>C (p.Tyr199=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127310] Chr18:59353244 [GRCh38]
Chr18:57020476 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127311] Chr18:59354546 [GRCh38]
Chr18:57021778 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.477+10T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127312] Chr18:59355303 [GRCh38]
Chr18:57022535 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*319A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123135] Chr18:59330774 [GRCh38]
Chr18:56998006 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1164A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126794] Chr18:59329929 [GRCh38]
Chr18:56997161 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.539+202C>A single nucleotide variant not provided [RCV001688915] Chr18:59354317 [GRCh38]
Chr18:57021549 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1374+282C>T single nucleotide variant not provided [RCV001619993] Chr18:59332809 [GRCh38]
Chr18:57000041 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.477+342C>G single nucleotide variant not provided [RCV001649961] Chr18:59354971 [GRCh38]
Chr18:57022203 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.214+168G>A single nucleotide variant not provided [RCV001618935] Chr18:59358863 [GRCh38]
Chr18:57026095 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.*860T>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126795] Chr18:59330233 [GRCh38]
Chr18:56997465 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.*794A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126796] Chr18:59330299 [GRCh38]
Chr18:56997531 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*492T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127203] Chr18:59330601 [GRCh38]
Chr18:56997833 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1921T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123057] Chr18:59329172 [GRCh38]
Chr18:56996404 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.*1862A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123058] Chr18:59329231 [GRCh38]
Chr18:56996463 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1556C>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124125] Chr18:59329537 [GRCh38]
Chr18:56996769 [GRCh37]
Chr18:18q21.32		 uncertain significance
NC_000018.10:g.59359346dup duplication not provided [RCV001595484] Chr18:59359341..59359342 [GRCh38]
Chr18:57026573..57026574 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.823-161_823-159del deletion not provided [RCV001721751] Chr18:59346210..59346212 [GRCh38]
Chr18:57013442..57013444 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1375-130G>A single nucleotide variant not provided [RCV001541437] Chr18:59331669 [GRCh38]
Chr18:56998901 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.822+244T>A single nucleotide variant not provided [RCV001722892] Chr18:59347269 [GRCh38]
Chr18:57014501 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.823-199C>T single nucleotide variant not provided [RCV001722896] Chr18:59346250 [GRCh38]
Chr18:57013482 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.640-142A>G single nucleotide variant not provided [RCV001656297] Chr18:59349378 [GRCh38]
Chr18:57016610 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1221-43del deletion not provided [RCV001638287] Chr18:59333287 [GRCh38]
Chr18:57000519 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.*210G>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123136] Chr18:59330883 [GRCh38]
Chr18:56998115 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123139] Chr18:59331099 [GRCh38]
Chr18:56998331 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.169C>G (p.Leu57Val) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123234] Chr18:59359076 [GRCh38]
Chr18:57026308 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124221] Chr18:59331503 [GRCh38]
Chr18:56998735 [GRCh37]
Chr18:18q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_005570.4(LMAN1):c.*2670G>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126690] Chr18:59328423 [GRCh38]
Chr18:56995655 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2637T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126691] Chr18:59328456 [GRCh38]
Chr18:56995688 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*763T>A single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126797] Chr18:59330330 [GRCh38]
Chr18:56997562 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.957G>A (p.Ala319=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126898]|not provided [RCV004717750] Chr18:59338952 [GRCh38]
Chr18:57006184 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.775G>A (p.Val259Ile) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126900] Chr18:59347560 [GRCh38]
Chr18:57014792 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2359A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127082] Chr18:59328734 [GRCh38]
Chr18:56995966 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2099C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127084] Chr18:59328994 [GRCh38]
Chr18:56996226 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2021A>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127085] Chr18:59329072 [GRCh38]
Chr18:56996304 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*571T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127202] Chr18:59330522 [GRCh38]
Chr18:56997754 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.463G>C (p.Asp155His) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127313] Chr18:59355327 [GRCh38]
Chr18:57022559 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*21T>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123138] Chr18:59331072 [GRCh38]
Chr18:56998304 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1434G>A (p.Thr478=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124219]|not provided [RCV004694772] Chr18:59331480 [GRCh38]
Chr18:56998712 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.822+249T>A single nucleotide variant not provided [RCV001710874] Chr18:59347264 [GRCh38]
Chr18:57014496 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_005570.4(LMAN1):c.1374+49A>G single nucleotide variant not provided [RCV001671704] Chr18:59333042 [GRCh38]
Chr18:57000274 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.764-86A>G single nucleotide variant not provided [RCV001711062] Chr18:59347657 [GRCh38]
Chr18:57014889 [GRCh37]
Chr18:18q21.32		 benign
NC_000018.10:g.59359441T>G single nucleotide variant not provided [RCV001645441] Chr18:59359441 [GRCh38]
Chr18:57026673 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.764-21dup duplication not provided [RCV001681638] Chr18:59347580..59347581 [GRCh38]
Chr18:57014812..57014813 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.*1631A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123059] Chr18:59329462 [GRCh38]
Chr18:56996694 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.106G>C (p.Asp36His) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123235] Chr18:59359139 [GRCh38]
Chr18:57026371 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1390T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124127] Chr18:59329703 [GRCh38]
Chr18:56996935 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1300C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124128] Chr18:59329793 [GRCh38]
Chr18:56997025 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*2541T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126692] Chr18:59328552 [GRCh38]
Chr18:56995784 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1271A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126793] Chr18:59329822 [GRCh38]
Chr18:56997054 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.936C>T (p.Pro312=) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001126899]|not provided [RCV002070073] Chr18:59345938 [GRCh38]
Chr18:57013170 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.*2184A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127083] Chr18:59328909 [GRCh38]
Chr18:56996141 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.*753T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127200] Chr18:59330340 [GRCh38]
Chr18:56997572 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*652T>C single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127201] Chr18:59330441 [GRCh38]
Chr18:56997673 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*416C>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001127205] Chr18:59330677 [GRCh38]
Chr18:56997909 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*185A>T single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001123137] Chr18:59330908 [GRCh38]
Chr18:56998140 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.*1493A>G single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124126] Chr18:59329600 [GRCh38]
Chr18:56996832 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124220]|Inborn genetic diseases [RCV002556691] Chr18:59331502 [GRCh38]
Chr18:56998734 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124222]|Inborn genetic diseases [RCV004639474] Chr18:59331523 [GRCh38]
Chr18:56998755 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV001124223] Chr18:59333155 [GRCh38]
Chr18:57000387 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.822+40_822+41insTGGT insertion not provided [RCV001662902] Chr18:59347472..59347473 [GRCh38]
Chr18:57014704..57014705 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_005570.4(LMAN1):c.823-326A>G single nucleotide variant not provided [RCV001688445] Chr18:59346377 [GRCh38]
Chr18:57013609 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.539+273T>A single nucleotide variant not provided [RCV001696112] Chr18:59354246 [GRCh38]
Chr18:57021478 [GRCh37]
Chr18:18q21.32		 benign
NM_005570.4(LMAN1):c.1220+50A>T single nucleotide variant not provided [RCV001687264] Chr18:59338507 [GRCh38]
Chr18:57005739 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|no classifications from unflagged records
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter) single nucleotide variant Factor V and factor VIII, combined deficiency of, type 1 [RCV002465069] Chr18:59355524 [GRCh38]
Chr18:57022756 [GRCh37]
Chr18:18q21.32		 pathogenic
GRCh37/hg19 18q21.32(chr18:56750526-57003096)x3 copy number gain not provided [RCV002475807] Chr18:56750526..57003096 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.29G>A (p.Arg10Gln) single nucleotide variant Inborn genetic diseases [RCV002753724] Chr18:59359216 [GRCh38]
Chr18:57026448 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.653A>G (p.Asn218Ser) single nucleotide variant Inborn genetic diseases [RCV002924043] Chr18:59349223 [GRCh38]
Chr18:57016455 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1490T>C (p.Met497Thr) single nucleotide variant Inborn genetic diseases [RCV002821624] Chr18:59331424 [GRCh38]
Chr18:56998656 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.535_539+2del deletion not provided [RCV002638307] Chr18:59354517..59354523 [GRCh38]
Chr18:57021749..57021755 [GRCh37]
Chr18:18q21.32		 likely pathogenic
NM_005570.4(LMAN1):c.190G>A (p.Val64Met) single nucleotide variant Inborn genetic diseases [RCV002738546] Chr18:59359055 [GRCh38]
Chr18:57026287 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.517C>G (p.Gln173Glu) single nucleotide variant Inborn genetic diseases [RCV002826003] Chr18:59354541 [GRCh38]
Chr18:57021773 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.133C>T (p.Arg45Cys) single nucleotide variant Inborn genetic diseases [RCV002789465] Chr18:59359112 [GRCh38]
Chr18:57026344 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.421G>C (p.Ala141Pro) single nucleotide variant Inborn genetic diseases [RCV002812235] Chr18:59355369 [GRCh38]
Chr18:57022601 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1528T>A (p.Phe510Ile) single nucleotide variant Inborn genetic diseases [RCV002807628] Chr18:59331098 [GRCh38]
Chr18:56998330 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.829C>G (p.Pro277Ala) single nucleotide variant Inborn genetic diseases [RCV002672634] Chr18:59346045 [GRCh38]
Chr18:57013277 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.655G>A (p.Gly219Ser) single nucleotide variant Inborn genetic diseases [RCV002703311] Chr18:59349221 [GRCh38]
Chr18:57016453 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.718G>A (p.Ala240Thr) single nucleotide variant Inborn genetic diseases [RCV002921713] Chr18:59349158 [GRCh38]
Chr18:57016390 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1240G>A (p.Val414Ile) single nucleotide variant Inborn genetic diseases [RCV002719446] Chr18:59333225 [GRCh38]
Chr18:57000457 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1202G>A (p.Arg401Lys) single nucleotide variant Inborn genetic diseases [RCV002897297] Chr18:59338575 [GRCh38]
Chr18:57005807 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.888T>G (p.Phe296Leu) single nucleotide variant Inborn genetic diseases [RCV002900836] Chr18:59345986 [GRCh38]
Chr18:57013218 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002652344] Chr18:59359240 [GRCh38]
Chr18:57026472 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.964A>C (p.Ile322Leu) single nucleotide variant Inborn genetic diseases [RCV003200916] Chr18:59338945 [GRCh38]
Chr18:57006177 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.599C>T (p.Pro200Leu) single nucleotide variant Inborn genetic diseases [RCV003215687] Chr18:59353242 [GRCh38]
Chr18:57020474 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.645G>A (p.Met215Ile) single nucleotide variant Inborn genetic diseases [RCV003218729] Chr18:59349231 [GRCh38]
Chr18:57016463 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.945A>T (p.Gln315His) single nucleotide variant Inborn genetic diseases [RCV003342753] Chr18:59345929 [GRCh38]
Chr18:57013161 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1373T>C (p.Met458Thr) single nucleotide variant Inborn genetic diseases [RCV003352528] Chr18:59333092 [GRCh38]
Chr18:57000324 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.477+3A>G single nucleotide variant LMAN1-related disorder [RCV003427831] Chr18:59355310 [GRCh38]
Chr18:57022542 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.877T>A (p.Phe293Ile) single nucleotide variant LMAN1-related disorder [RCV003410440] Chr18:59345997 [GRCh38]
Chr18:57013229 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_005570.4(LMAN1):c.605G>A (p.Arg202Gln) single nucleotide variant LMAN1-related disorder [RCV003927240] Chr18:59353236 [GRCh38]
Chr18:57020468 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.764-11_764-10del deletion LMAN1-related disorder [RCV003927252] Chr18:59347581..59347582 [GRCh38]
Chr18:57014813..57014814 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.764-11_764-10dup duplication LMAN1-related disorder [RCV003951871] Chr18:59347580..59347581 [GRCh38]
Chr18:57014812..57014813 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.1468G>A (p.Val490Ile) single nucleotide variant Inborn genetic diseases [RCV004407538] Chr18:59331446 [GRCh38]
Chr18:56998678 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.207C>G (p.His69Gln) single nucleotide variant Inborn genetic diseases [RCV004407539] Chr18:59359038 [GRCh38]
Chr18:57026270 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.244G>T (p.Val82Leu) single nucleotide variant Inborn genetic diseases [RCV004407540] Chr18:59355629 [GRCh38]
Chr18:57022861 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.29G>C (p.Arg10Pro) single nucleotide variant Inborn genetic diseases [RCV004407541] Chr18:59359216 [GRCh38]
Chr18:57026448 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.521T>C (p.Ile174Thr) single nucleotide variant Inborn genetic diseases [RCV004407542] Chr18:59354537 [GRCh38]
Chr18:57021769 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.544G>A (p.Gly182Arg) single nucleotide variant Inborn genetic diseases [RCV004407543] Chr18:59353297 [GRCh38]
Chr18:57020529 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.617C>T (p.Thr206Ile) single nucleotide variant Inborn genetic diseases [RCV004407544] Chr18:59353224 [GRCh38]
Chr18:57020456 [GRCh37]
Chr18:18q21.32		 likely benign
NM_005570.4(LMAN1):c.832G>A (p.Asp278Asn) single nucleotide variant Inborn genetic diseases [RCV004407545] Chr18:59346042 [GRCh38]
Chr18:57013274 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.837A>C (p.Lys279Asn) single nucleotide variant Inborn genetic diseases [RCV004407546] Chr18:59346037 [GRCh38]
Chr18:57013269 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.997C>G (p.Gln333Glu) single nucleotide variant Inborn genetic diseases [RCV004407547] Chr18:59338912 [GRCh38]
Chr18:57006144 [GRCh37]
Chr18:18q21.32		 uncertain significance
NC_000018.9:g.(?_56936236)_(57147490_?)dup duplication not provided [RCV004579869] Chr18:56936236..57147490 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.464A>G (p.Asp155Gly) single nucleotide variant Inborn genetic diseases [RCV004634025] Chr18:59355326 [GRCh38]
Chr18:57022558 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1073A>G (p.Glu358Gly) single nucleotide variant Inborn genetic diseases [RCV004637180] Chr18:59338836 [GRCh38]
Chr18:57006068 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_005570.4(LMAN1):c.1306T>G (p.Phe436Val) single nucleotide variant Inborn genetic diseases [RCV004637181] Chr18:59333159 [GRCh38]
Chr18:57000391 [GRCh37]
Chr18:18q21.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2511
Count of miRNA genes:1000
Interacting mature miRNAs:1219
Transcripts:ENST00000251047, ENST00000587561, ENST00000587918, ENST00000587940, ENST00000592562
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407237731GWAS886707_Hbody height QTL GWAS886707 (human)7e-18body height (VT:0001253)body height (CMO:0000106)185934084859340849Human
407006697GWAS655673_Hcardiac troponin I measurement QTL GWAS655673 (human)1e-11cardiac troponin I measurementblood troponin level (CMO:0001283)185933323759333238Human
407187721GWAS836697_Hblood protein measurement QTL GWAS836697 (human)2e-28blood protein measurementblood protein measurement (CMO:0000028)185933323759333238Human
407215850GWAS864826_Hcardiac troponin I measurement QTL GWAS864826 (human)1e-11cardiac troponin I measurementblood troponin level (CMO:0001283)185935397459353975Human

Markers in Region
D18S896E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,997,250 - 56,997,364UniSTSGRCh37
Build 361855,148,230 - 55,148,344RGDNCBI36
Celera1853,715,069 - 53,715,183RGD
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,706,514 - 53,706,628UniSTS
GeneMap99-GB4 RH Map18399.4UniSTS
NCBI RH Map18753.2UniSTS
D18928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,995,100 - 56,995,187UniSTSGRCh37
Build 361855,146,080 - 55,146,167RGDNCBI36
Celera1853,712,919 - 53,713,006RGD
Celera1861,910,406 - 61,910,493UniSTS
HuRef1853,704,364 - 53,704,451UniSTS
D18S948E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,996,434 - 56,996,518UniSTSGRCh37
Build 361855,147,414 - 55,147,498RGDNCBI36
Celera1853,714,253 - 53,714,337RGD
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,705,698 - 53,705,782UniSTS
RH48271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,996,705 - 56,996,866UniSTSGRCh37
Build 361855,147,685 - 55,147,846RGDNCBI36
Celera1853,714,524 - 53,714,685RGD
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,705,969 - 53,706,130UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
NCBI RH Map18745.0UniSTS
STS-U09716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,997,872 - 56,998,043UniSTSGRCh37
Build 361855,148,852 - 55,149,023RGDNCBI36
Celera1853,715,691 - 53,715,862RGD
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,707,136 - 53,707,307UniSTS
GeneMap99-GB4 RH Map18400.62UniSTS
RH47264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,995,797 - 56,995,951UniSTSGRCh37
Build 361855,146,777 - 55,146,931RGDNCBI36
Celera1853,713,616 - 53,713,770RGD
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,705,061 - 53,705,215UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
NCBI RH Map18745.0UniSTS
SHGC-12001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,997,963 - 56,998,115UniSTSGRCh37
Build 361855,148,943 - 55,149,095RGDNCBI36
Celera1853,715,782 - 53,715,934RGD
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,707,227 - 53,707,379UniSTS
Stanford-G3 RH Map182303.0UniSTS
NCBI RH Map18746.1UniSTS
GeneMap99-G3 RH Map182303.0UniSTS
WI-11993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371856,995,069 - 56,995,196UniSTSGRCh37
Build 361855,146,049 - 55,146,176RGDNCBI36
Celera1853,712,888 - 53,713,015RGD
Celera1861,910,375 - 61,910,502UniSTS
Cytogenetic Map18q21.3-q22UniSTS
HuRef1853,704,333 - 53,704,460UniSTS
GeneMap99-GB4 RH Map18402.82UniSTS
Whitehead-RH Map18445.5UniSTS
NCBI RH Map18745.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI280513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC308886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U09716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X71661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000251047   ⟹   ENSP00000251047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,327,823 - 59,359,265 (-)Ensembl
Ensembl Acc Id: ENST00000587561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,352,681 - 59,359,265 (-)Ensembl
Ensembl Acc Id: ENST00000587918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,331,463 - 59,333,691 (-)Ensembl
Ensembl Acc Id: ENST00000587940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,345,971 - 59,351,589 (-)Ensembl
Ensembl Acc Id: ENST00000592562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,330,776 - 59,331,639 (-)Ensembl
RefSeq Acc Id: NM_005570   ⟹   NP_005561
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,327,823 - 59,359,265 (-)NCBI
GRCh371856,995,055 - 57,026,508 (-)ENTREZGENE
Build 361855,148,088 - 55,177,463 (-)NCBI Archive
HuRef1853,704,319 - 53,735,757 (-)ENTREZGENE
CHM1_11856,990,302 - 57,021,756 (-)NCBI
T2T-CHM13v2.01859,529,314 - 59,560,731 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005561   ⟸   NM_005570
- Peptide Label: precursor
- UniProtKB: Q9UQH1 (UniProtKB/Swiss-Prot),   Q9UQH0 (UniProtKB/Swiss-Prot),   Q9UQG9 (UniProtKB/Swiss-Prot),   Q9UQG8 (UniProtKB/Swiss-Prot),   Q9UQG7 (UniProtKB/Swiss-Prot),   Q9UQG6 (UniProtKB/Swiss-Prot),   Q9UQG5 (UniProtKB/Swiss-Prot),   Q9UQG4 (UniProtKB/Swiss-Prot),   Q9UQG3 (UniProtKB/Swiss-Prot),   Q9UQG2 (UniProtKB/Swiss-Prot),   Q9UQG1 (UniProtKB/Swiss-Prot),   Q8N5I7 (UniProtKB/Swiss-Prot),   Q12895 (UniProtKB/Swiss-Prot),   Q9UQH2 (UniProtKB/Swiss-Prot),   P49257 (UniProtKB/Swiss-Prot),   B2R774 (UniProtKB/TrEMBL),   Q53FS4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000251047   ⟸   ENST00000251047
Protein Domains
L-type lectin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49257-F1-model_v2 AlphaFold P49257 1-510 view protein structure

Promoters
RGD ID:6794902
Promoter ID:HG_KWN:28113
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256129
Position:
Human AssemblyChrPosition (strand)Source
Build 361855,177,054 - 55,177,554 (-)MPROMDB
RGD ID:7237463
Promoter ID:EPDNEW_H24477
Type:initiation region
Name:LMAN1_1
Description:lectin, mannose binding 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,359,254 - 59,359,314EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6631 AgrOrtholog
COSMIC LMAN1 COSMIC
Ensembl Genes ENSG00000074695 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000251047 ENTREZGENE
  ENST00000251047.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000074695 GTEx
HGNC ID HGNC:6631 ENTREZGENE
Human Proteome Map LMAN1 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intracellular_Lectin-GPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lectin_leg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3998 UniProtKB/Swiss-Prot
NCBI Gene 3998 ENTREZGENE
OMIM 601567 OMIM
PANTHER PTHR12223:SF32 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VESICULAR MANNOSE-BINDING LECTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lectin_leg-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30399 PharmGKB
PROSITE L_LECTIN_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0PJ85_HUMAN UniProtKB/TrEMBL
  B2R774 ENTREZGENE, UniProtKB/TrEMBL
  LMAN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q12895 ENTREZGENE
  Q53FS4 ENTREZGENE, UniProtKB/TrEMBL
  Q8N5I7 ENTREZGENE
  Q9UQG1 ENTREZGENE
  Q9UQG2 ENTREZGENE
  Q9UQG3 ENTREZGENE
  Q9UQG4 ENTREZGENE
  Q9UQG5 ENTREZGENE
  Q9UQG6 ENTREZGENE
  Q9UQG7 ENTREZGENE
  Q9UQG8 ENTREZGENE
  Q9UQG9 ENTREZGENE
  Q9UQH0 ENTREZGENE
  Q9UQH1 ENTREZGENE
  Q9UQH2 ENTREZGENE
UniProt Secondary Q12895 UniProtKB/Swiss-Prot
  Q8N5I7 UniProtKB/Swiss-Prot
  Q9UQG1 UniProtKB/Swiss-Prot
  Q9UQG2 UniProtKB/Swiss-Prot
  Q9UQG3 UniProtKB/Swiss-Prot
  Q9UQG4 UniProtKB/Swiss-Prot
  Q9UQG5 UniProtKB/Swiss-Prot
  Q9UQG6 UniProtKB/Swiss-Prot
  Q9UQG7 UniProtKB/Swiss-Prot
  Q9UQG8 UniProtKB/Swiss-Prot
  Q9UQG9 UniProtKB/Swiss-Prot
  Q9UQH0 UniProtKB/Swiss-Prot
  Q9UQH1 UniProtKB/Swiss-Prot
  Q9UQH2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 LMAN1  lectin, mannose binding 1  LMAN1  lectin, mannose-binding, 1  Symbol and/or name change 5135510 APPROVED