B4GALT1 (beta-1,4-galactosyltransferase 1) - Rat Genome Database

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Gene: B4GALT1 (beta-1,4-galactosyltransferase 1) Homo sapiens
Analyze
Symbol: B4GALT1
Name: beta-1,4-galactosyltransferase 1
RGD ID: 1349315
HGNC Page HGNC:924
Description: Enables several functions, including UDP-galactosyltransferase activity; manganese ion binding activity; and tubulin binding activity. Involved in several processes, including oligosaccharide biosynthetic process; positive regulation of circulating fibrinogen levels; and protein N-linked glycosylation. Located in several cellular components, including Golgi trans cisterna; basolateral plasma membrane; and brush border membrane. Implicated in congenital disorder of glycosylation and congenital disorder of glycosylation type IId.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B4GAL-T1; beta-1,4-GalTase 1; beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase; beta4Gal-T1; CDG2D; CLDLFIB; DKFZp686N19253; GGTB2; glycoprotein-4-beta-galactosyltransferase 2; GT1; GTB; lactose synthase; MGC50983; N-acetyllactosamine synthase; nal synthase; neolactotriaosylceramide beta-1,4-galactosyltransferase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1
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
GRCh38933,104,077 - 33,185,089 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,100,493 - 33,167,336 (-)EnsemblGRCh38hg38GRCh38
GRCh37933,104,075 - 33,167,334 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,100,642 - 33,157,236 (-)NCBINCBI36Build 36hg18NCBI36
Build 34933,100,641 - 33,157,231NCBI
Celera933,041,647 - 33,098,362 (-)NCBICelera
Cytogenetic Map9p21.1NCBI
HuRef933,068,632 - 33,125,120 (-)NCBIHuRef
CHM1_1933,110,422 - 33,167,124 (-)NCBICHM1_1
T2T-CHM13v2.0933,120,636 - 33,185,969 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methoxyethanol  (ISO)
2-tert-butylhydroquinone  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-nonylphenol  (EXP)
4-octylphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
andrographolide  (EXP)
antirheumatic drug  (EXP)
Bardoxolone methyl  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chrysene  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
cyclosporin A  (ISO)
dexamethasone  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
diquat  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
estriol  (EXP)
fenoldopam  (ISO)
fenthion  (ISO)
finasteride  (ISO)
fipronil  (ISO)
folic acid  (ISO)
folpet  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glycidyl methacrylate  (EXP)
ivermectin  (EXP)
keratan sulfate  (EXP)
lipopolysaccharide  (ISO)
lithium chloride  (EXP)
malathion  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
paracetamol  (EXP,ISO)
paricalcitol  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetraphene  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. Hansske B, etal., J Clin Invest. 2002 Mar;109(6):725-33.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:33805   PMID:1384956   PMID:1714903   PMID:1903938   PMID:2120039   PMID:2124683   PMID:2187500   PMID:2541446   PMID:2542563   PMID:2649653   PMID:2829950   PMID:3091013  
PMID:3094506   PMID:3098628   PMID:3144273   PMID:3917437   PMID:6121819   PMID:7540104   PMID:7579794   PMID:7744867   PMID:8540625   PMID:9597550   PMID:10580128   PMID:10900002  
PMID:11295846   PMID:11419947   PMID:11506180   PMID:11947697   PMID:12477932   PMID:12966167   PMID:15164053   PMID:15611127   PMID:15668241   PMID:16157350   PMID:16502470   PMID:16675551  
PMID:16786197   PMID:17021253   PMID:18029348   PMID:18215327   PMID:18314154   PMID:18330979   PMID:18929424   PMID:19056867   PMID:19106107   PMID:19199708   PMID:19204726   PMID:19261593  
PMID:19322201   PMID:19946888   PMID:20202494   PMID:20301507   PMID:20360068   PMID:20378551   PMID:20379614   PMID:20490888   PMID:20619088   PMID:20655926   PMID:20851383   PMID:20886274  
PMID:21750942   PMID:21873635   PMID:22740701   PMID:22847114   PMID:22927297   PMID:22939629   PMID:22982306   PMID:23263486   PMID:23376485   PMID:23382691   PMID:23533145   PMID:23583406  
PMID:23744354   PMID:25223470   PMID:25936519   PMID:26186194   PMID:26191157   PMID:26315939   PMID:26496610   PMID:26840264   PMID:27092876   PMID:27797721   PMID:28319085   PMID:28514442  
PMID:28611215   PMID:28750925   PMID:29117863   PMID:29180619   PMID:29793447   PMID:30352055   PMID:30884312   PMID:31210280   PMID:31800099   PMID:32027290   PMID:32157688   PMID:32296183  
PMID:32344865   PMID:32373974   PMID:32513696   PMID:32902124   PMID:33144569   PMID:33238000   PMID:33287670   PMID:33309857   PMID:33845483   PMID:33961781   PMID:34855475   PMID:35007762  
PMID:35696571   PMID:37198983   PMID:37303063   PMID:37328064  


Genomics

Comparative Map Data
B4GALT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38933,104,077 - 33,185,089 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,100,493 - 33,167,336 (-)EnsemblGRCh38hg38GRCh38
GRCh37933,104,075 - 33,167,334 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,100,642 - 33,157,236 (-)NCBINCBI36Build 36hg18NCBI36
Build 34933,100,641 - 33,157,231NCBI
Celera933,041,647 - 33,098,362 (-)NCBICelera
Cytogenetic Map9p21.1NCBI
HuRef933,068,632 - 33,125,120 (-)NCBIHuRef
CHM1_1933,110,422 - 33,167,124 (-)NCBICHM1_1
T2T-CHM13v2.0933,120,636 - 33,185,969 (-)NCBIT2T-CHM13v2.0
B4galt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39440,804,602 - 40,855,711 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl440,804,602 - 40,854,005 (-)EnsemblGRCm39 Ensembl
GRCm38440,804,602 - 40,853,984 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,804,602 - 40,854,005 (-)EnsemblGRCm38mm10GRCm38
MGSCv37440,751,635 - 40,801,031 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36440,993,273 - 41,042,669 (-)NCBIMGSCv36mm8
Celera440,465,334 - 40,514,995 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map420.46NCBI
B4galt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8560,731,601 - 60,778,456 (-)NCBIGRCr8
mRatBN7.2555,935,614 - 55,982,461 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl555,935,615 - 55,982,461 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx557,902,532 - 57,949,398 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,721,688 - 59,768,553 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,715,682 - 59,762,877 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0557,121,768 - 57,168,610 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl557,121,769 - 57,168,610 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0561,653,278 - 61,700,179 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,196,388 - 58,243,231 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera554,547,735 - 54,594,543 (-)NCBICelera
Cytogenetic Map5q22NCBI
B4galt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554722,490,661 - 2,536,317 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554722,490,649 - 2,536,053 (+)NCBIChiLan1.0ChiLan1.0
B4GALT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21191,435,685 - 91,492,756 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1991,441,627 - 91,498,698 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0932,889,124 - 32,945,759 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1933,697,551 - 33,754,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl933,691,733 - 33,754,192 (-)Ensemblpanpan1.1panPan2
B4GALT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11150,223,880 - 50,276,745 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1150,226,242 - 50,276,730 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1148,852,300 - 48,904,681 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01151,162,293 - 51,214,628 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1151,144,069 - 51,214,773 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11149,827,305 - 49,879,364 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01149,693,975 - 49,746,100 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01150,459,162 - 50,511,219 (-)NCBIUU_Cfam_GSD_1.0
B4galt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,112,211 - 165,166,434 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365241,659,608 - 1,714,102 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365241,659,791 - 1,713,971 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B4GALT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,317,305 - 33,381,285 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,317,295 - 33,381,285 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21037,574,201 - 37,635,284 (+)NCBISscrofa10.2Sscrofa10.2susScr3
B4GALT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603843,998,873 - 44,065,682 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
B4galt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473637,848,117 - 37,927,980 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473637,848,431 - 37,927,291 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in B4GALT1
171 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs) duplication B4GALT1-congenital disorder of glycosylation [RCV000017616] Chr9:33113806..33113807 [GRCh38]
Chr9:33113804..33113805 [GRCh37]
Chr9:9p21.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001497.4(B4GALT1):c.517G>A (p.Val173Ile) single nucleotide variant not provided [RCV000079716] Chr9:33135320 [GRCh38]
Chr9:33135318 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.597C>T (p.His199=) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV001554211]|not provided [RCV001515161]|not specified [RCV000079717] Chr9:33135240 [GRCh38]
Chr9:33135238 [GRCh37]
Chr9:9p21.1		 benign|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001497.4(B4GALT1):c.1064+5A>T single nucleotide variant not provided [RCV000224633] Chr9:33113769 [GRCh38]
Chr9:33113767 [GRCh37]
Chr9:9p21.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001497.3(B4GALT1):c.892C>G (p.Leu298Val) single nucleotide variant Congenital disorder of glycosylation [RCV000300936] Chr9:33116058 [GRCh38]
Chr9:33116056 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*130G>A single nucleotide variant not provided [RCV001714188] Chr9:33113324 [GRCh38]
Chr9:33113324..33113325 [GRCh38]
Chr9:33113322 [GRCh37]
Chr9:33113322..33113323 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.3(B4GALT1):c.*1766C>T single nucleotide variant Congenital disorder of glycosylation [RCV000322254] Chr9:33111688 [GRCh38]
Chr9:33111686 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.412+11G>T single nucleotide variant not provided [RCV001518436]|not specified [RCV000425479] Chr9:33166747 [GRCh38]
Chr9:33166745 [GRCh37]
Chr9:9p21.1		 benign|likely benign
NM_001497.4(B4GALT1):c.*730AGAA[1] microsatellite Congenital disorder of glycosylation [RCV000323528]|not provided [RCV004696137] Chr9:33112717..33112720 [GRCh38]
Chr9:33112715..33112718 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*219C>A single nucleotide variant Congenital disorder of glycosylation [RCV000347455] Chr9:33113235 [GRCh38]
Chr9:33113233 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2104T>C single nucleotide variant Congenital disorder of glycosylation [RCV000270491] Chr9:33111350 [GRCh38]
Chr9:33111348 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.*2613G>A single nucleotide variant Congenital disorder of glycosylation [RCV000325217] Chr9:33110841 [GRCh38]
Chr9:33110839 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.*1499C>T single nucleotide variant Congenital disorder of glycosylation [RCV000373458] Chr9:33111955 [GRCh38]
Chr9:33111953 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*183C>G single nucleotide variant Congenital disorder of glycosylation [RCV000399624] Chr9:33113271 [GRCh38]
Chr9:33113269 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV003225724]|Congenital disorder of glycosylation [RCV000326771]|not provided [RCV001245732]|not specified [RCV002230210] Chr9:33166778 [GRCh38]
Chr9:33166776 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1122C>T single nucleotide variant Congenital disorder of glycosylation [RCV000350633] Chr9:33112332 [GRCh38]
Chr9:33112330 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*414G>C single nucleotide variant Congenital disorder of glycosylation [RCV000374366] Chr9:33113040 [GRCh38]
Chr9:33113038 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1080T>C single nucleotide variant Congenital disorder of glycosylation [RCV000307353] Chr9:33112374 [GRCh38]
Chr9:33112372 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2041G>A single nucleotide variant Congenital disorder of glycosylation [RCV000327881] Chr9:33111413 [GRCh38]
Chr9:33111411 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.*2458C>T single nucleotide variant Congenital disorder of glycosylation [RCV000328851] Chr9:33110996 [GRCh38]
Chr9:33110994 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2441G>A single nucleotide variant Congenital disorder of glycosylation [RCV000376544] Chr9:33111013 [GRCh38]
Chr9:33111011 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2490C>T single nucleotide variant Congenital disorder of glycosylation [RCV000290197] Chr9:33110964 [GRCh38]
Chr9:33110962 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*226G>A single nucleotide variant Congenital disorder of glycosylation [RCV000290133] Chr9:33113228 [GRCh38]
Chr9:33113226 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*331C>T single nucleotide variant Congenital disorder of glycosylation [RCV000330422] Chr9:33113123 [GRCh38]
Chr9:33113121 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.*256C>A single nucleotide variant not provided [RCV001638937] Chr9:33113198 [GRCh38]
Chr9:33113196 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.3(B4GALT1):c.-60C>T single nucleotide variant Congenital disorder of glycosylation [RCV000378044] Chr9:33167229 [GRCh38]
Chr9:33167227 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.-101C>T single nucleotide variant not provided [RCV001786110] Chr9:33167270 [GRCh38]
Chr9:33167268 [GRCh37]
Chr9:9p21.1		 likely benign|uncertain significance
NM_001497.4(B4GALT1):c.770A>G (p.His257Arg) single nucleotide variant B4GALT1-related disorder [RCV003950300]|Inborn genetic diseases [RCV002523790]|not provided [RCV000918400] Chr9:33120485 [GRCh38]
Chr9:33120483 [GRCh37]
Chr9:9p21.1		 benign|likely benign|uncertain significance
NM_001497.4(B4GALT1):c.328C>A (p.Pro110Thr) single nucleotide variant not provided [RCV001066156] Chr9:33166842 [GRCh38]
Chr9:33166840 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2759T>G single nucleotide variant Congenital disorder of glycosylation [RCV000331485] Chr9:33110695 [GRCh38]
Chr9:33110693 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV002488829]|not provided [RCV000963462]|not specified [RCV000437780] Chr9:33113788 [GRCh38]
Chr9:33113786 [GRCh37]
Chr9:9p21.1		 benign|likely benign|uncertain significance
NM_001497.4(B4GALT1):c.621G>A (p.Leu207=) single nucleotide variant not provided [RCV000954407] Chr9:33135216 [GRCh38]
Chr9:33135214 [GRCh37]
Chr9:9p21.1		 likely benign|uncertain significance
NM_001497.3(B4GALT1):c.*879T>C single nucleotide variant Congenital disorder of glycosylation [RCV000358421] Chr9:33112575 [GRCh38]
Chr9:33112573 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*286T>G single nucleotide variant Congenital disorder of glycosylation [RCV000295351] Chr9:33113168 [GRCh38]
Chr9:33113166 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2269C>G single nucleotide variant Congenital disorder of glycosylation [RCV000335878] Chr9:33111185 [GRCh38]
Chr9:33111183 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.1073G>A (p.Arg358Gln) single nucleotide variant Congenital disorder of glycosylation [RCV000408398] Chr9:33113578 [GRCh38]
Chr9:33113576 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.960-12T>C single nucleotide variant not provided [RCV001718794] Chr9:33113890 [GRCh38]
Chr9:33113888 [GRCh37]
Chr9:9p21.1		 benign|likely benign|uncertain significance
NM_001497.3(B4GALT1):c.*386C>T single nucleotide variant Congenital disorder of glycosylation [RCV000263373] Chr9:33113068 [GRCh38]
Chr9:33113066 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2175G>T single nucleotide variant Congenital disorder of glycosylation [RCV000362838] Chr9:33111279 [GRCh38]
Chr9:33111277 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*316G>A single nucleotide variant Congenital disorder of glycosylation [RCV000387288] Chr9:33113138 [GRCh38]
Chr9:33113136 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2729C>T single nucleotide variant Congenital disorder of glycosylation [RCV000388406] Chr9:33110725 [GRCh38]
Chr9:33110723 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1461A>T single nucleotide variant Congenital disorder of glycosylation [RCV000281343] Chr9:33111993 [GRCh38]
Chr9:33111991 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1664A>G single nucleotide variant Congenital disorder of glycosylation [RCV000316544] Chr9:33111790 [GRCh38]
Chr9:33111788 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.39G>A (p.Ala13=) single nucleotide variant Congenital disorder of glycosylation [RCV000339562] Chr9:33167131 [GRCh38]
Chr9:33167129 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1014A>G single nucleotide variant Congenital disorder of glycosylation [RCV000364395] Chr9:33112440 [GRCh38]
Chr9:33112438 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.*829T>G single nucleotide variant Congenital disorder of glycosylation [RCV000266061] Chr9:33112625 [GRCh38]
Chr9:33112623 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.*2402G>A single nucleotide variant Congenital disorder of glycosylation [RCV000341252] Chr9:33111052 [GRCh38]
Chr9:33111050 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.1156T>C (p.Leu386=) single nucleotide variant Congenital disorder of glycosylation [RCV000341317] Chr9:33113495 [GRCh38]
Chr9:33113493 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*1890del deletion Congenital disorder of glycosylation [RCV000366157] Chr9:33111564 [GRCh38]
Chr9:33111562 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.3(B4GALT1):c.*2253G>A single nucleotide variant Congenital disorder of glycosylation [RCV000392408] Chr9:33111201 [GRCh38]
Chr9:33111199 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*2172GTT[1] microsatellite Congenital disorder of glycosylation [RCV000392424]|not provided [RCV004696136] Chr9:33111277..33111279 [GRCh38]
Chr9:33111275..33111277 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.-81G>A single nucleotide variant Congenital disorder of glycosylation [RCV000343268] Chr9:33167250 [GRCh38]
Chr9:33167248 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2178T>G single nucleotide variant Congenital disorder of glycosylation [RCV000367058] Chr9:33111276 [GRCh38]
Chr9:33111274 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.776C>T (p.Ala259Val) single nucleotide variant Inborn genetic diseases [RCV002757327] Chr9:33120479 [GRCh38]
Chr9:33120477 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1005C>A single nucleotide variant Congenital disorder of glycosylation [RCV000393590] Chr9:33112449 [GRCh38]
Chr9:33112447 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*706A>T single nucleotide variant Congenital disorder of glycosylation [RCV000259902] Chr9:33112748 [GRCh38]
Chr9:33112746 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2404dup duplication Congenital disorder of glycosylation [RCV000283956] Chr9:33111049..33111050 [GRCh38]
Chr9:33111047..33111048 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.867C>G (p.Val289=) single nucleotide variant not provided [RCV000273704] Chr9:33116083 [GRCh38]
Chr9:33116081 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*1675dup duplication Congenital disorder of glycosylation [RCV000287084] Chr9:33111778..33111779 [GRCh38]
Chr9:33111776..33111777 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.*705dup duplication Congenital disorder of glycosylation [RCV000317423] Chr9:33112748..33112749 [GRCh38]
Chr9:33112746..33112747 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.864_867delinsGGTG (p.Gly288_Val289=) indel not provided [RCV000319555] Chr9:33116083..33116086 [GRCh38]
Chr9:33116081..33116084 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*1874C>T single nucleotide variant Congenital disorder of glycosylation [RCV000264743] Chr9:33111580 [GRCh38]
Chr9:33111578 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*1087dup duplication Congenital disorder of glycosylation [RCV000393571] Chr9:33112366..33112367 [GRCh38]
Chr9:33112364..33112365 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*2718G>C single nucleotide variant Congenital disorder of glycosylation [RCV000277205] Chr9:33110736 [GRCh38]
Chr9:33110734 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2292A>T single nucleotide variant Congenital disorder of glycosylation [RCV000278596] Chr9:33111162 [GRCh38]
Chr9:33111160 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.864T>G (p.Gly288=) single nucleotide variant not provided [RCV000368422] Chr9:33116086 [GRCh38]
Chr9:33116084 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.1096A>T (p.Met366Leu) single nucleotide variant not provided [RCV000520027] Chr9:33113555 [GRCh38]
Chr9:33113553 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*714G>C single nucleotide variant Congenital disorder of glycosylation [RCV000361915] Chr9:33112740 [GRCh38]
Chr9:33112738 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1332C>A single nucleotide variant Congenital disorder of glycosylation [RCV000398838] Chr9:33112122 [GRCh38]
Chr9:33112120 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*2398del deletion Congenital disorder of glycosylation [RCV000400836] Chr9:33111056 [GRCh38]
Chr9:33111054 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*251C>G single nucleotide variant Congenital disorder of glycosylation [RCV000382180] Chr9:33113203 [GRCh38]
Chr9:33113201 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*2569G>C single nucleotide variant Congenital disorder of glycosylation [RCV000382261] Chr9:33110885 [GRCh38]
Chr9:33110883 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1327T>C single nucleotide variant Congenital disorder of glycosylation [RCV000293400] Chr9:33112127 [GRCh38]
Chr9:33112125 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.357G>T (p.Val119=) single nucleotide variant B4GALT1-related disorder [RCV003933391]|not provided [RCV002097886] Chr9:33166813 [GRCh38]
Chr9:33166811 [GRCh37]
Chr9:9p21.1		 likely benign|uncertain significance
NM_001497.4(B4GALT1):c.143G>A (p.Ser48Asn) single nucleotide variant Inborn genetic diseases [RCV004023586]|not provided [RCV000521835] Chr9:33167027 [GRCh38]
Chr9:33167025 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.-69G>T single nucleotide variant Congenital disorder of glycosylation [RCV000285873] Chr9:33167238 [GRCh38]
Chr9:33167236 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.-132C>G single nucleotide variant Congenital disorder of glycosylation [RCV000337536] Chr9:33167301 [GRCh38]
Chr9:33167299 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1337C>G single nucleotide variant Congenital disorder of glycosylation [RCV000338760] Chr9:33112117 [GRCh38]
Chr9:33112115 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.-159G>C single nucleotide variant Congenital disorder of glycosylation [RCV000390930] Chr9:33167328 [GRCh38]
Chr9:33167326 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.-112C>A single nucleotide variant Congenital disorder of glycosylation [RCV000298891] Chr9:33167281 [GRCh38]
Chr9:33167279 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*925A>G single nucleotide variant Congenital disorder of glycosylation [RCV000310829] Chr9:33112529 [GRCh38]
Chr9:33112527 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*2200_*2203del deletion Congenital disorder of glycosylation [RCV000300707]|not provided [RCV004696135] Chr9:33111251..33111254 [GRCh38]
Chr9:33111249..33111252 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.*2172_*2176del deletion Congenital disorder of glycosylation [RCV000313639] Chr9:33111278..33111282 [GRCh38]
Chr9:33111276..33111280 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.3(B4GALT1):c.*1751G>A single nucleotide variant Congenital disorder of glycosylation [RCV000379087] Chr9:33111703 [GRCh38]
Chr9:33111701 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.412+44dup duplication not provided [RCV000596027] Chr9:33166713..33166714 [GRCh38]
Chr9:33166711..33166712 [GRCh37]
Chr9:9p21.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:33112878-33270576)x3 copy number gain See cases [RCV000447474] Chr9:33112878..33270576 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001497.4(B4GALT1):c.1065-12T>A single nucleotide variant not specified [RCV000424673] Chr9:33113598 [GRCh38]
Chr9:33113596 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.987T>C (p.Ser329=) single nucleotide variant not provided [RCV000903605]|not specified [RCV000428184] Chr9:33113851 [GRCh38]
Chr9:33113849 [GRCh37]
Chr9:9p21.1		 likely benign
GRCh37/hg19 9p21.1-13.3(chr9:33165444-33259483)x3 copy number gain See cases [RCV000445752] Chr9:33165444..33259483 [GRCh37]
Chr9:9p21.1-13.3		 benign
NM_001497.4(B4GALT1):c.84C>T (p.Ala28=) single nucleotide variant B4GALT1-related disorder [RCV003942428]|not specified [RCV000426434] Chr9:33167086 [GRCh38]
Chr9:33167084 [GRCh37]
Chr9:9p21.1		 likely benign
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NM_001497.4(B4GALT1):c.703G>A (p.Ala235Thr) single nucleotide variant Inborn genetic diseases [RCV003303947] Chr9:33120552 [GRCh38]
Chr9:33120550 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_001497.4(B4GALT1):c.-35G>T single nucleotide variant not specified [RCV000615353] Chr9:33167204 [GRCh38]
Chr9:33167202 [GRCh37]
Chr9:9p21.1		 likely benign
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:32912345-33564154)x3 copy number gain not provided [RCV000748375] Chr9:32912345..33564154 [GRCh37]
Chr9:9p21.1-13.3		 benign
GRCh37/hg19 9p21.1-13.3(chr9:33158280-33249364)x3 copy number gain not provided [RCV000748376] Chr9:33158280..33249364 [GRCh37]
Chr9:9p21.1-13.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001497.4(B4GALT1):c.54C>G (p.Ser18=) single nucleotide variant not provided [RCV000917291] Chr9:33167116 [GRCh38]
Chr9:33167114 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.27C>A (p.Ser9Arg) single nucleotide variant B4GALT1-related disorder [RCV003962899]|not provided [RCV000972794] Chr9:33167143 [GRCh38]
Chr9:33167141 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV002501476]|not provided [RCV000892920]|not specified [RCV003317397] Chr9:33166911 [GRCh38]
Chr9:33166909 [GRCh37]
Chr9:9p21.1		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001497.4(B4GALT1):c.192G>A (p.Ser64=) single nucleotide variant not provided [RCV000917736] Chr9:33166978 [GRCh38]
Chr9:33166976 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.960-19_960-18del deletion not provided [RCV000842464] Chr9:33113896..33113897 [GRCh38]
Chr9:33113894..33113895 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.648+102C>T single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV001554210]|not provided [RCV000835505] Chr9:33135087 [GRCh38]
Chr9:33135085 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV000988174]|not provided [RCV002550608] Chr9:33167165 [GRCh38]
Chr9:33167163 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001497.4(B4GALT1):c.1130A>G (p.Gln377Arg) single nucleotide variant not provided [RCV001242018] Chr9:33113521 [GRCh38]
Chr9:33113519 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p21.1-13.3(chr9:33087213-33274455)x3 copy number gain not provided [RCV000849697] Chr9:33087213..33274455 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_001497.4(B4GALT1):c.412+141A>G single nucleotide variant not provided [RCV001695359] Chr9:33166617 [GRCh38]
Chr9:33166615 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.413-212A>G single nucleotide variant not provided [RCV001635967] Chr9:33135636 [GRCh38]
Chr9:33135634 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.836+156A>G single nucleotide variant not provided [RCV001618017] Chr9:33120263 [GRCh38]
Chr9:33120261 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.649-161A>G single nucleotide variant not provided [RCV001636338] Chr9:33120767 [GRCh38]
Chr9:33120765 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.648+325T>A single nucleotide variant not provided [RCV001639761] Chr9:33134864 [GRCh38]
Chr9:33134862 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.649-102T>C single nucleotide variant not provided [RCV001615891] Chr9:33120708 [GRCh38]
Chr9:33120706 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.*154G>A single nucleotide variant not provided [RCV001563493] Chr9:33113300 [GRCh38]
Chr9:33113298 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.836+214T>C single nucleotide variant not provided [RCV001656084] Chr9:33120205 [GRCh38]
Chr9:33120203 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p21.1-13.3(chr9:33127803-33398500)x3 copy number gain not provided [RCV002473888] Chr9:33127803..33398500 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p21.1-13.3(chr9:33126394-33398500)x3 copy number gain not provided [RCV001006236] Chr9:33126394..33398500 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_001497.4(B4GALT1):c.837-128del deletion not provided [RCV001670913] Chr9:33116241 [GRCh38]
Chr9:33116239 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.960-94G>A single nucleotide variant not provided [RCV001650572] Chr9:33113972 [GRCh38]
Chr9:33113970 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV001293780] Chr9:33167109 [GRCh38]
Chr9:33167107 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:33127802-33377822)x3 copy number gain not provided [RCV001259520] Chr9:33127802..33377822 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV001293779] Chr9:33135258 [GRCh38]
Chr9:33135256 [GRCh37]
Chr9:9p21.1		 pathogenic
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_001497.4(B4GALT1):c.800G>A (p.Arg267Gln) single nucleotide variant not provided [RCV001341514] Chr9:33120455 [GRCh38]
Chr9:33120453 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.648+6G>A single nucleotide variant not provided [RCV001360098] Chr9:33135183 [GRCh38]
Chr9:33135181 [GRCh37]
Chr9:9p21.1		 uncertain significance
NC_000009.11:g.(?_33135167)_(33167187_?)dup duplication not provided [RCV001313751] Chr9:33135167..33167187 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV001333950]|not provided [RCV001865798] Chr9:33120444 [GRCh38]
Chr9:33120442 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.836+206T>C single nucleotide variant not provided [RCV001537177] Chr9:33120213 [GRCh38]
Chr9:33120211 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.836+213T>C single nucleotide variant not provided [RCV001533942] Chr9:33120206 [GRCh38]
Chr9:33120204 [GRCh37]
Chr9:9p21.1		 benign
NM_001497.4(B4GALT1):c.180G>A (p.Leu60=) single nucleotide variant not provided [RCV001496895] Chr9:33166990 [GRCh38]
Chr9:33166988 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.186C>G (p.Gly62=) single nucleotide variant not provided [RCV001504396] Chr9:33166984 [GRCh38]
Chr9:33166982 [GRCh37]
Chr9:9p21.1		 likely benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
NM_001497.4(B4GALT1):c.959+22T>C single nucleotide variant not provided [RCV001786246] Chr9:33115969 [GRCh38]
Chr9:33115967 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.10C>T (p.Arg4Trp) single nucleotide variant not provided [RCV001765194] Chr9:33167160 [GRCh38]
Chr9:33167158 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.959+135G>A single nucleotide variant not provided [RCV001779578] Chr9:33115856 [GRCh38]
Chr9:33115854 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.1064+32C>G single nucleotide variant not provided [RCV001786715] Chr9:33113742 [GRCh38]
Chr9:33113740 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.*153C>T single nucleotide variant not provided [RCV001779707] Chr9:33113301 [GRCh38]
Chr9:33113299 [GRCh37]
Chr9:9p21.1		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001497.4(B4GALT1):c.526C>T (p.His176Tyr) single nucleotide variant not provided [RCV002006029] Chr9:33135311 [GRCh38]
Chr9:33135309 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NC_000009.11:g.(?_33166736)_(33167167_?)dup duplication not provided [RCV001928062] Chr9:33166736..33167167 [GRCh37]
Chr9:9p21.1		 uncertain significance
NC_000009.11:g.(?_32457120)_(33167167_?)dup duplication not provided [RCV001987469] Chr9:32457120..33167167 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.557A>G (p.Asn186Ser) single nucleotide variant not provided [RCV001967110] Chr9:33135280 [GRCh38]
Chr9:33135278 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
NM_001497.4(B4GALT1):c.538A>G (p.Ile180Val) single nucleotide variant not provided [RCV001957649] Chr9:33135299 [GRCh38]
Chr9:33135297 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.96G>A (p.Leu32=) single nucleotide variant B4GALT1-related disorder [RCV003923603]|not provided [RCV002115198] Chr9:33167074 [GRCh38]
Chr9:33167072 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.765T>C (p.Asn255=) single nucleotide variant not provided [RCV002174118] Chr9:33120490 [GRCh38]
Chr9:33120488 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.959+15T>C single nucleotide variant not provided [RCV002137602] Chr9:33115976 [GRCh38]
Chr9:33115974 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.413-18C>T single nucleotide variant not provided [RCV002163549] Chr9:33135442 [GRCh38]
Chr9:33135440 [GRCh37]
Chr9:9p21.1		 likely benign
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:33127803-33391202)x3 copy number gain not provided [RCV002474636] Chr9:33127803..33391202 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_001497.4(B4GALT1):c.28G>T (p.Gly10Cys) single nucleotide variant not provided [RCV002299738] Chr9:33167142 [GRCh38]
Chr9:33167140 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.403C>G (p.Pro135Ala) single nucleotide variant Inborn genetic diseases [RCV002902539] Chr9:33166767 [GRCh38]
Chr9:33166765 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.776C>G (p.Ala259Gly) single nucleotide variant Inborn genetic diseases [RCV002865299] Chr9:33120479 [GRCh38]
Chr9:33120477 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.547C>G (p.Pro183Ala) single nucleotide variant Inborn genetic diseases [RCV002880098] Chr9:33135290 [GRCh38]
Chr9:33135288 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.898A>G (p.Ile300Val) single nucleotide variant Inborn genetic diseases [RCV004603281]|not provided [RCV003076364] Chr9:33116052 [GRCh38]
Chr9:33116050 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.1149A>T (p.Arg383Ser) single nucleotide variant not provided [RCV003076246] Chr9:33113502 [GRCh38]
Chr9:33113500 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.257C>T (p.Pro86Leu) single nucleotide variant not provided [RCV002795382] Chr9:33166913 [GRCh38]
Chr9:33166911 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.1112T>G (p.Leu371Trp) single nucleotide variant Inborn genetic diseases [RCV002781845] Chr9:33113539 [GRCh38]
Chr9:33113537 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.611G>A (p.Arg204His) single nucleotide variant not provided [RCV002948392] Chr9:33135226 [GRCh38]
Chr9:33135224 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.445G>A (p.Val149Met) single nucleotide variant Inborn genetic diseases [RCV002758788] Chr9:33135392 [GRCh38]
Chr9:33135390 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.278A>C (p.Gln93Pro) single nucleotide variant Inborn genetic diseases [RCV002757904] Chr9:33166892 [GRCh38]
Chr9:33166890 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.790T>G (p.Ser264Ala) single nucleotide variant not provided [RCV002619438] Chr9:33120465 [GRCh38]
Chr9:33120463 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.1194C>G (p.Ser398Arg) single nucleotide variant Inborn genetic diseases [RCV002788196] Chr9:33113457 [GRCh38]
Chr9:33113455 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.412+13_412+17del deletion not provided [RCV002792139] Chr9:33166741..33166745 [GRCh38]
Chr9:33166739..33166743 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.716A>G (p.Tyr239Cys) single nucleotide variant B4GALT1-congenital disorder of glycosylation [RCV004771526]|not provided [RCV002649796] Chr9:33120539 [GRCh38]
Chr9:33120537 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.661A>G (p.Ile221Val) single nucleotide variant Inborn genetic diseases [RCV002648450] Chr9:33120594 [GRCh38]
Chr9:33120592 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.777G>A (p.Ala259=) single nucleotide variant not provided [RCV003068449] Chr9:33120478 [GRCh38]
Chr9:33120476 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.814G>A (p.Ala272Thr) single nucleotide variant Inborn genetic diseases [RCV003281065] Chr9:33120441 [GRCh38]
Chr9:33120439 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser) single nucleotide variant Combined low LDL and fibrinogen [RCV003228703] Chr9:33113783 [GRCh38]
Chr9:33113781 [GRCh37]
Chr9:9p21.1		 pathogenic
NM_001497.4(B4GALT1):c.1096A>G (p.Met366Val) single nucleotide variant Inborn genetic diseases [RCV003193463] Chr9:33113555 [GRCh38]
Chr9:33113553 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.50C>T (p.Ala17Val) single nucleotide variant Inborn genetic diseases [RCV003211602] Chr9:33167120 [GRCh38]
Chr9:33167118 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.487A>G (p.Met163Val) single nucleotide variant Inborn genetic diseases [RCV003358152]|not provided [RCV003487316] Chr9:33135350 [GRCh38]
Chr9:33135348 [GRCh37]
Chr9:9p21.1		 likely benign|uncertain significance
NM_001497.4(B4GALT1):c.112C>T (p.Leu38Phe) single nucleotide variant Inborn genetic diseases [RCV003210814] Chr9:33167058 [GRCh38]
Chr9:33167056 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.513C>G (p.Asp171Glu) single nucleotide variant Inborn genetic diseases [RCV003366151]|not provided [RCV004723279] Chr9:33135324 [GRCh38]
Chr9:33135322 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001497.4(B4GALT1):c.459C>T (p.Leu153=) single nucleotide variant B4GALT1-related disorder [RCV003966504]|not provided [RCV003561788] Chr9:33135378 [GRCh38]
Chr9:33135376 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.1065-5T>C single nucleotide variant not provided [RCV003846810] Chr9:33113591 [GRCh38]
Chr9:33113589 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.412+15C>T single nucleotide variant not provided [RCV003685300] Chr9:33166743 [GRCh38]
Chr9:33166741 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.757C>G (p.Pro253Ala) single nucleotide variant not provided [RCV003567849] Chr9:33120498 [GRCh38]
Chr9:33120496 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.229C>T (p.Leu77Phe) single nucleotide variant Inborn genetic diseases [RCV004423604] Chr9:33166941 [GRCh38]
Chr9:33166939 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.575A>C (p.Lys192Thr) single nucleotide variant Inborn genetic diseases [RCV004423605] Chr9:33135262 [GRCh38]
Chr9:33135260 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.39G>T (p.Ala13=) single nucleotide variant B4GALT1-related disorder [RCV003959860] Chr9:33167131 [GRCh38]
Chr9:33167129 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.-6G>A single nucleotide variant B4GALT1-related disorder [RCV003968995] Chr9:33167175 [GRCh38]
Chr9:33167173 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.837-10T>C single nucleotide variant B4GALT1-related disorder [RCV003921413] Chr9:33116123 [GRCh38]
Chr9:33116121 [GRCh37]
Chr9:9p21.1		 likely benign
NM_001497.4(B4GALT1):c.746T>C (p.Val249Ala) single nucleotide variant Inborn genetic diseases [RCV004601922] Chr9:33120509 [GRCh38]
Chr9:33120507 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.460G>A (p.Val154Met) single nucleotide variant Inborn genetic diseases [RCV004601929] Chr9:33135377 [GRCh38]
Chr9:33135375 [GRCh37]
Chr9:9p21.1		 uncertain significance
NC_000009.11:g.(?_32453279)_(36276941_?)dup duplication not provided [RCV004582073] Chr9:32453279..36276941 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_001497.4(B4GALT1):c.391C>T (p.Pro131Ser) single nucleotide variant Inborn genetic diseases [RCV004614728] Chr9:33166779 [GRCh38]
Chr9:33166777 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.431A>C (p.Glu144Ala) single nucleotide variant Inborn genetic diseases [RCV004601888] Chr9:33135406 [GRCh38]
Chr9:33135404 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_001497.4(B4GALT1):c.817A>T (p.Met273Leu) single nucleotide variant Inborn genetic diseases [RCV004601902] Chr9:33120438 [GRCh38]
Chr9:33120436 [GRCh37]
Chr9:9p21.1		 uncertain significance
NC_000009.11:g.(33135423_33166755)_(33167335_?)dup duplication not specified [RCV004766923] Chr9:33166755..33167335 [GRCh37]
Chr9:9p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1989
Count of miRNA genes:978
Interacting mature miRNAs:1180
Transcripts:ENST00000379731, ENST00000535206, ENST00000541851
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
407187525GWAS836501_Haspartate aminotransferase measurement QTL GWAS836501 (human)3e-09aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93316306133163062Human
406980929GWAS629905_Hhematocrit QTL GWAS629905 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)93311694333116944Human
407203654GWAS852630_Hblood protein measurement QTL GWAS852630 (human)1e-24blood protein measurementblood protein measurement (CMO:0000028)93312580633125807Human
407027019GWAS675995_Hserum IgG glycosylation measurement QTL GWAS675995 (human)5e-08serum IgG glycosylation measurement93315352933153530Human
407026508GWAS675484_Hserum IgG glycosylation measurement QTL GWAS675484 (human)9e-11serum IgG glycosylation measurement93313945533139456Human
407343432GWAS992408_Hurate measurement QTL GWAS992408 (human)5e-23urate measurementblood uric acid level (CMO:0000501)93312984133129842Human
407150421GWAS799397_Hferritin measurement QTL GWAS799397 (human)1e-11ferritin measurement93311796733117968Human
407026515GWAS675491_Hserum IgG glycosylation measurement QTL GWAS675491 (human)5e-11serum IgG glycosylation measurement93313945533139456Human
406902612GWAS551588_HIgG galactosylation measurement QTL GWAS551588 (human)7e-08IgG galactosylation measurement93312487433124875Human
407026518GWAS675494_Hserum IgG glycosylation measurement QTL GWAS675494 (human)1e-09serum IgG glycosylation measurement93312802333128024Human
407091030GWAS740006_Hserum IgG glycosylation measurement QTL GWAS740006 (human)8e-14serum IgG glycosylation measurement93313461933134620Human
407091029GWAS740005_Hserum IgG glycosylation measurement QTL GWAS740005 (human)1e-10serum IgG glycosylation measurement93314934233149343Human
407018837GWAS667813_Hbody height QTL GWAS667813 (human)1e-11body height (VT:0001253)body height (CMO:0000106)93311332433113325Human
407201874GWAS850850_Hblood protein measurement QTL GWAS850850 (human)2e-46blood protein measurementblood protein measurement (CMO:0000028)93312580633125807Human
407285598GWAS934574_Hglomerular filtration rate QTL GWAS934574 (human)2e-13glomerular filtration rateglomerular filtration rate (CMO:0000490)93312702333127024Human
407091288GWAS740264_Hserum IgG glycosylation measurement QTL GWAS740264 (human)2e-12serum IgG glycosylation measurement93312500233125003Human
407091039GWAS740015_Hserum IgG glycosylation measurement QTL GWAS740015 (human)1e-09serum IgG glycosylation measurement93318056833180569Human
407091038GWAS740014_Hserum IgG glycosylation measurement QTL GWAS740014 (human)6e-10serum IgG glycosylation measurement93318056833180569Human
407091298GWAS740274_Hserum IgG glycosylation measurement QTL GWAS740274 (human)8e-10serum IgG glycosylation measurement93316889333168894Human
407091297GWAS740273_Hserum IgG glycosylation measurement QTL GWAS740273 (human)1e-14serum IgG glycosylation measurement93312487433124875Human
407021664GWAS670640_Hurate measurement QTL GWAS670640 (human)4e-14urate measurementblood uric acid level (CMO:0000501)93312500233125003Human
407091303GWAS740279_Hserum IgG glycosylation measurement QTL GWAS740279 (human)1e-09serum IgG glycosylation measurement93316889333168894Human
407091302GWAS740278_Hserum IgG glycosylation measurement QTL GWAS740278 (human)3e-20serum IgG glycosylation measurement93312487433124875Human
407027559GWAS676535_Hurate measurement QTL GWAS676535 (human)0.0000004urate measurementblood uric acid level (CMO:0000501)93318036433180365Human
407022702GWAS671678_Hserum IgG glycosylation measurement QTL GWAS671678 (human)0.0000004serum IgG glycosylation measurement93312802333128024Human
407352682GWAS1001658_Haspartate aminotransferase measurement QTL GWAS1001658 (human)1e-16aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93311796733117968Human
407021171GWAS670147_Hurate measurement QTL GWAS670147 (human)0.0000002urate measurementblood uric acid level (CMO:0000501)93314132233141323Human
407022705GWAS671681_Hserum IgG glycosylation measurement QTL GWAS671681 (human)3e-10serum IgG glycosylation measurement93312487433124875Human
407343984GWAS992960_Hurate measurement QTL GWAS992960 (human)5e-13urate measurementblood uric acid level (CMO:0000501)93314918633149187Human
406978175GWAS627151_Haspartate aminotransferase measurement QTL GWAS627151 (human)8e-33aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93310999833109999Human
406940417GWAS589393_Huromodulin measurement QTL GWAS589393 (human)3e-13uromodulin measurement93312362933123630Human
407026438GWAS675414_Hserum IgG glycosylation measurement QTL GWAS675414 (human)2e-09serum IgG glycosylation measurement93315352933153530Human
407188238GWAS837214_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS837214 (human)3e-21scavenger receptor cysteine-rich type 1 protein m130 measurement93311796733117968Human
407367946GWAS1016922_Hblood protein measurement QTL GWAS1016922 (human)3e-43blood protein measurementblood protein measurement (CMO:0000028)93313835433138355Human
406983693GWAS632669_Hurate measurement QTL GWAS632669 (human)2e-09urate measurementblood uric acid level (CMO:0000501)93318036433180365Human
407343381GWAS992357_Hurate measurement QTL GWAS992357 (human)7e-35urate measurementblood uric acid level (CMO:0000501)93313759833137599Human
407036950GWAS685926_Hurate measurement QTL GWAS685926 (human)2e-27urate measurementblood uric acid level (CMO:0000501)93318036433180365Human
407198736GWAS847712_Hleukocyte immunoglobulin-like receptor subfamily B member 1 measurement QTL GWAS847712 (human)1e-13aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93311796733117968Human
407022613GWAS671589_Hserum IgG glycosylation measurement QTL GWAS671589 (human)3e-11serum IgG glycosylation measurement93312487433124875Human
407274010GWAS922986_Hbody height QTL GWAS922986 (human)2e-69body height (VT:0001253)body height (CMO:0000106)93311332433113325Human
407199256GWAS848232_Hlymphatic vessel endothelial hyaluronic acid receptor 1 measurement QTL GWAS848232 (human)1e-29lymphatic vessel endothelial hyaluronic acid receptor 1 measurement93311796733117968Human
407026977GWAS675953_Hserum IgG glycosylation measurement QTL GWAS675953 (human)0.0000005serum IgG glycosylation measurement93312487433124875Human
406955816GWAS604792_Ht-cell surface glycoprotein CD5 measurement QTL GWAS604792 (human)4e-15t-cell surface glycoprotein CD5 measurement93312264733122648Human
407090217GWAS739193_Hserum IgG glycosylation measurement QTL GWAS739193 (human)0.0000002serum IgG glycosylation measurement93312487433124875Human
407022894GWAS671870_Hserum IgG glycosylation measurement QTL GWAS671870 (human)0.000003serum IgG glycosylation measurement93312802333128024Human
407344170GWAS993146_Hurate measurement QTL GWAS993146 (human)1e-09urate measurementblood uric acid level (CMO:0000501)93315327533153276Human
407026994GWAS675970_Hserum IgG glycosylation measurement QTL GWAS675970 (human)5e-08serum IgG glycosylation measurement93312487433124875Human
407088433GWAS737409_Hserum IgG glycosylation measurement QTL GWAS737409 (human)9e-10serum IgG glycosylation measurement93312487433124875Human
406938162GWAS587138_Hhemoglobin measurement QTL GWAS587138 (human)3e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)93314920033149201Human
407023418GWAS672394_Hserum IgG glycosylation measurement QTL GWAS672394 (human)0.000002serum IgG glycosylation measurement93312580633125807Human
407030844GWAS679820_Hurate measurement QTL GWAS679820 (human)3e-10urate measurementblood uric acid level (CMO:0000501)93314132233141323Human
407256005GWAS904981_Huromodulin measurement QTL GWAS904981 (human)9e-15uromodulin measurement93311924333119244Human
407074503GWAS723479_Hserum IgG glycosylation measurement QTL GWAS723479 (human)8e-15serum IgG glycosylation measurement93314934233149343Human
407074501GWAS723477_Hserum IgG glycosylation measurement QTL GWAS723477 (human)5e-14serum IgG glycosylation measurement93313461933134620Human
407074504GWAS723480_Hserum IgG glycosylation measurement QTL GWAS723480 (human)2e-10serum IgG glycosylation measurement93318056833180569Human
407023055GWAS672031_Hserum IgG glycosylation measurement QTL GWAS672031 (human)0.000001serum IgG glycosylation measurement93313945533139456Human
407255752GWAS904728_Huromodulin measurement QTL GWAS904728 (human)8e-15uromodulin measurement93313563633135637Human
407285463GWAS934439_Hhigh density lipoprotein cholesterol measurement QTL GWAS934439 (human)8e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)93312843133128432Human
407270100GWAS919076_Huric acid measurement QTL GWAS919076 (human)2e-08uric acid measurementblood uric acid level (CMO:0000501)93311890633118907Human
407288788GWAS937764_Hcreatinine measurement QTL GWAS937764 (human)6e-10creatinine measurementblood creatinine measurement (CMO:0000767)93314918633149187Human
406944470GWAS593446_Hhematocrit QTL GWAS593446 (human)5e-10hematocrithematocrit (CMO:0000037)93311694333116944Human
407192541GWAS841517_Hprotein measurement QTL GWAS841517 (human)5e-12protein measurement93311796733117968Human
407087322GWAS736298_Hserum IgG glycosylation measurement QTL GWAS736298 (human)1e-09serum IgG glycosylation measurement93312487433124875Human
407087321GWAS736297_Hserum IgG glycosylation measurement QTL GWAS736297 (human)4e-14serum IgG glycosylation measurement93313461933134620Human
407087320GWAS736296_Hserum IgG glycosylation measurement QTL GWAS736296 (human)4e-14serum IgG glycosylation measurement93315141733151418Human
407087327GWAS736303_Hserum IgG glycosylation measurement QTL GWAS736303 (human)3e-08serum IgG glycosylation measurement93312487433124875Human
406891743GWAS540719_Hbeta-1,4-galactosyltransferase 1 measurement QTL GWAS540719 (human)8e-29beta-1,4-galactosyltransferase 1 measurement93311332433113325Human
407367398GWAS1016374_Hblood protein measurement QTL GWAS1016374 (human)1e-27blood protein measurementblood protein measurement (CMO:0000028)93313835433138355Human
407087329GWAS736305_Hserum IgG glycosylation measurement QTL GWAS736305 (human)4e-16serum IgG glycosylation measurement93312487433124875Human
407334882GWAS983858_Huric acid measurement QTL GWAS983858 (human)1e-29uric acid measurementblood uric acid level (CMO:0000501)93317945333179454Human
407076587GWAS725563_Hserum IgG glycosylation measurement QTL GWAS725563 (human)0.0000001serum IgG glycosylation measurement93315141733151418Human
407076586GWAS725562_Hserum IgG glycosylation measurement QTL GWAS725562 (human)1e-09serum IgG glycosylation measurement93315141733151418Human
406955499GWAS604475_Hbeta-1,4-galactosyltransferase 1 measurement QTL GWAS604475 (human)2e-80beta-1,4-galactosyltransferase 1 measurement93311332433113325Human
407022824GWAS671800_Hserum IgG glycosylation measurement QTL GWAS671800 (human)7e-08serum IgG glycosylation measurement93312802333128024Human
407089641GWAS738617_Hserum IgG glycosylation measurement QTL GWAS738617 (human)5e-09serum IgG glycosylation measurement93315141733151418Human
407076590GWAS725566_Hserum IgG glycosylation measurement QTL GWAS725566 (human)0.0000003serum IgG glycosylation measurement93313461933134620Human
406947310GWAS596286_Hmacrophage colony-stimulating factor 1 receptor measurement QTL GWAS596286 (human)9e-20macrophage colony-stimulating factor 1 receptor measurement93311752633117527Human
407013869GWAS662845_Haspartate aminotransferase measurement QTL GWAS662845 (human)6e-14aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93311796733117968Human
407089644GWAS738620_Hserum IgG glycosylation measurement QTL GWAS738620 (human)8e-09serum IgG glycosylation measurement93315141733151418Human
407023344GWAS672320_Hserum IgG glycosylation measurement QTL GWAS672320 (human)0.000007serum IgG glycosylation measurement93312264733122648Human
407026673GWAS675649_Hserum IgG glycosylation measurement QTL GWAS675649 (human)5e-10serum IgG glycosylation measurement93312802333128024Human
407076592GWAS725568_Hserum IgG glycosylation measurement QTL GWAS725568 (human)3e-08serum IgG glycosylation measurement93313461933134620Human
407324410GWAS973386_Hbody height QTL GWAS973386 (human)6e-10body height (VT:0001253)body height (CMO:0000106)93311332433113325Human
407393525GWAS1042501_Haspartate aminotransferase measurement QTL GWAS1042501 (human)2e-51aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93311796733117968Human
407035010GWAS683986_Hblood protein measurement QTL GWAS683986 (human)6e-08blood protein measurementblood protein measurement (CMO:0000028)93311795633117957Human
407321477GWAS970453_Hglomerular filtration rate QTL GWAS970453 (human)3e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)93316903633169037Human
407091591GWAS740567_Hserum IgG glycosylation measurement QTL GWAS740567 (human)0.0000004serum IgG glycosylation measurement93313461933134620Human
407022982GWAS671958_Hserum IgG glycosylation measurement QTL GWAS671958 (human)3e-09serum IgG glycosylation measurement93315352933153530Human
406902661GWAS551637_Hserum IgG glycosylation measurement QTL GWAS551637 (human)1e-10serum IgG glycosylation measurement93312487433124875Human
406942087GWAS591063_Hserum IgG glycosylation measurement QTL GWAS591063 (human)9e-34serum IgG glycosylation measurement93312802333128024Human
407017611GWAS666587_Hurate measurement QTL GWAS666587 (human)5e-20urate measurementblood uric acid level (CMO:0000501)93314132233141323Human
406901900GWAS550876_HIgG fucosylation measurement QTL GWAS550876 (human)5e-13IgG fucosylation measurement93312487433124875Human
407100816GWAS749792_Herythrocyte count QTL GWAS749792 (human)5e-13erythrocyte countred blood cell count (CMO:0000025)93311694333116944Human
407087001GWAS735977_HN-glycan measurement QTL GWAS735977 (human)3e-12N-glycan measurement93312861933128620Human
407081379GWAS730355_Hblood protein measurement QTL GWAS730355 (human)6e-51blood protein measurementblood protein measurement (CMO:0000028)93312580633125807Human
407095970GWAS744946_Hglomerular filtration rate QTL GWAS744946 (human)2e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)93316903633169037Human
407113638GWAS762614_Hmathematical ability QTL GWAS762614 (human)1e-08mathematical ability93310614133106142Human
407202720GWAS851696_Hblood protein measurement QTL GWAS851696 (human)2e-13blood protein measurementblood protein measurement (CMO:0000028)93311752633117527Human
407026599GWAS675575_Hserum IgG glycosylation measurement QTL GWAS675575 (human)0.000007serum IgG glycosylation measurement93315352933153530Human
407064239GWAS713215_Hred blood cell density measurement QTL GWAS713215 (human)2e-10erythrocyte countred blood cell count (CMO:0000025)93311694333116944Human
407347370GWAS996346_Hurate measurement QTL GWAS996346 (human)3e-13urate measurementblood uric acid level (CMO:0000501)93314175433141755Human
407089326GWAS738302_Hserum IgG glycosylation measurement QTL GWAS738302 (human)3e-09serum IgG glycosylation measurement93315141733151418Human
407399078GWAS1048054_Hlymphatic vessel endothelial hyaluronic acid receptor 1 measurement QTL GWAS1048054 (human)7e-15lymphatic vessel endothelial hyaluronic acid receptor 1 measurement93311796733117968Human
407358902GWAS1007878_Heducational attainment QTL GWAS1007878 (human)3e-09educational attainment93310614133106142Human
407008944GWAS657920_Huric acid measurement QTL GWAS657920 (human)0.0000004uric acid measurementblood uric acid level (CMO:0000501)93312416333124164Human
406978742GWAS627718_Hhemoglobin measurement QTL GWAS627718 (human)4e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)93311694333116944Human
407089335GWAS738311_Hserum IgG glycosylation measurement QTL GWAS738311 (human)3e-10serum IgG glycosylation measurement93315141733151418Human
407008951GWAS657927_Huric acid measurement QTL GWAS657927 (human)0.000007uric acid measurementblood uric acid level (CMO:0000501)93312416333124164Human
407152050GWAS801026_Haspartate aminotransferase measurement QTL GWAS801026 (human)3e-22aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)93310999833109999Human
406917814GWAS566790_Huric acid measurement QTL GWAS566790 (human)2e-08uric acid measurementblood uric acid level (CMO:0000501)93313380733133808Human
407367101GWAS1016077_Hblood protein measurement QTL GWAS1016077 (human)3e-33blood protein measurementblood protein measurement (CMO:0000028)93313835433138355Human

Markers in Region
D9S1788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,135,842 - 33,135,975UniSTSGRCh37
Build 36933,125,842 - 33,125,975RGDNCBI36
Celera933,066,850 - 33,066,983RGD
Cytogenetic Map9p13UniSTS
HuRef933,093,825 - 33,093,966UniSTS
Marshfield Genetic Map958.8RGD
Marshfield Genetic Map958.8UniSTS
Genethon Genetic Map957.3UniSTS
Whitehead-YAC Contig Map9 UniSTS
D9S1845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,156,914 - 33,157,188UniSTSGRCh37
Build 36933,146,914 - 33,147,188RGDNCBI36
Celera933,087,921 - 33,088,197RGD
Cytogenetic Map9p13UniSTS
HuRef933,114,761 - 33,115,027UniSTS
Marshfield Genetic Map958.8RGD
Marshfield Genetic Map958.8UniSTS
Genethon Genetic Map957.3UniSTS
deCODE Assembly Map955.42UniSTS
Stanford-G3 RH Map91422.0UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9422.0UniSTS
GeneMap99-G3 RH Map91469.0UniSTS
D9S1705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,112,929 - 33,113,264UniSTSGRCh37
Build 36933,102,929 - 33,103,264RGDNCBI36
Celera933,043,937 - 33,044,272RGD
Cytogenetic Map9p13UniSTS
HuRef933,070,747 - 33,071,082UniSTS
Whitehead-RH Map9151.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
RH17851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,110,703 - 33,110,832UniSTSGRCh37
Build 36933,100,703 - 33,100,832RGDNCBI36
Celera933,041,711 - 33,041,840RGD
Cytogenetic Map9p13UniSTS
HuRef933,068,696 - 33,068,825UniSTS
GeneMap99-GB4 RH Map9133.47UniSTS
RH122271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,130,468 - 33,130,810UniSTSGRCh37
Build 36933,120,468 - 33,120,810RGDNCBI36
Celera933,061,477 - 33,061,818RGD
Cytogenetic Map9p13UniSTS
HuRef933,088,442 - 33,088,783UniSTS
TNG Radiation Hybrid Map917097.0UniSTS
G59840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,113,040 - 33,113,254UniSTSGRCh37
Build 36933,103,040 - 33,103,254RGDNCBI36
Celera933,044,048 - 33,044,262RGD
Cytogenetic Map9p13UniSTS
HuRef933,070,858 - 33,071,072UniSTS
TNG Radiation Hybrid Map917079.0UniSTS
SHGC-150820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,156,843 - 33,157,036UniSTSGRCh37
Build 36933,146,843 - 33,147,036RGDNCBI36
Celera933,087,850 - 33,088,043RGD
Cytogenetic Map9p13UniSTS
HuRef933,114,690 - 33,114,883UniSTS
TNG Radiation Hybrid Map917114.0UniSTS
TNG Radiation Hybrid Map1736455.0UniSTS
RH16521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,165,146 - 33,165,279UniSTSGRCh37
Build 36933,155,146 - 33,155,279RGDNCBI36
Celera933,096,152 - 33,096,285RGD
Cytogenetic Map9p13UniSTS
HuRef933,122,982 - 33,123,115UniSTS
GeneMap99-GB4 RH Map9124.73UniSTS
PMC150909P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,113,649 - 33,114,009UniSTSGRCh37
Build 36933,103,649 - 33,104,009RGDNCBI36
Celera933,044,657 - 33,045,017RGD
Cytogenetic Map9p13UniSTS
HuRef933,071,467 - 33,071,827UniSTS
PMC16394P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,166,761 - 33,167,131UniSTSGRCh37
Build 36933,156,761 - 33,157,131RGDNCBI36
Celera933,097,767 - 33,098,137RGD
Cytogenetic Map9p13UniSTS
HuRef933,124,597 - 33,124,895UniSTS
SHGC-31076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,135,144 - 33,135,295UniSTSGRCh37
Build 36933,125,144 - 33,125,295RGDNCBI36
Celera933,066,152 - 33,066,303RGD
Cytogenetic Map9p13UniSTS
HuRef933,093,127 - 33,093,278UniSTS
GeneMap99-GB4 RH Map9119.53UniSTS
Whitehead-RH Map9137.4UniSTS
NCBI RH Map9409.1UniSTS
GeneMap99-G3 RH Map91474.0UniSTS
A006S33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,110,734 - 33,110,908UniSTSGRCh37
Build 36933,100,734 - 33,100,908RGDNCBI36
Celera933,041,742 - 33,041,916RGD
Cytogenetic Map9p13UniSTS
HuRef933,068,727 - 33,068,901UniSTS
GeneMap99-GB4 RH Map9119.82UniSTS
NCBI RH Map9406.7UniSTS
B4GALT1_4417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,110,461 - 33,111,305UniSTSGRCh37
Build 36933,100,461 - 33,101,305RGDNCBI36
Celera933,041,469 - 33,042,313RGD
HuRef933,068,454 - 33,069,298UniSTS
D4Ulb4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,640,961 - 3,641,264UniSTSGRCh37
GRCh371174,111,462 - 74,111,553UniSTSGRCh37
Celera173,652,655 - 3,652,958UniSTS
Celera1171,418,327 - 71,418,418UniSTS
HuRef933,091,172 - 33,091,283UniSTS
HuRef10114,708,416 - 114,708,789UniSTS
HuRef173,531,148 - 3,531,451UniSTS


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_008919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A23697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY864848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU624063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM603708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG765099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG765101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000379731   ⟹   ENSP00000369055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,110,642 - 33,167,336 (-)Ensembl
Ensembl Acc Id: ENST00000535206   ⟹   ENSP00000440341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,100,493 - 33,167,336 (-)Ensembl
Ensembl Acc Id: ENST00000718311   ⟹   ENSP00000520749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,110,638 - 33,167,305 (-)Ensembl
RefSeq Acc Id: NM_001378495   ⟹   NP_001365424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,110,642 - 33,167,159 (-)NCBI
T2T-CHM13v2.0933,127,208 - 33,185,792 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378496   ⟹   NP_001365425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,110,642 - 33,167,336 (-)NCBI
T2T-CHM13v2.0933,127,208 - 33,185,969 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378497   ⟹   NP_001365426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,104,077 - 33,167,336 (-)NCBI
T2T-CHM13v2.0933,120,636 - 33,185,969 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001497   ⟹   NP_001488
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,110,642 - 33,167,336 (-)NCBI
GRCh37933,110,636 - 33,167,356 (-)NCBI
Build 36933,100,642 - 33,157,236 (-)NCBI Archive
HuRef933,068,632 - 33,125,120 (-)ENTREZGENE
CHM1_1933,110,422 - 33,167,124 (-)NCBI
T2T-CHM13v2.0933,127,208 - 33,185,969 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423231   ⟹   XP_047279187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,110,642 - 33,185,089 (-)NCBI
RefSeq Acc Id: XM_047423232   ⟹   XP_047279188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,110,642 - 33,165,613 (-)NCBI
RefSeq Acc Id: XM_054362742   ⟹   XP_054218717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,137,183 - 33,185,969 (-)NCBI
RefSeq Acc Id: XM_054362743   ⟹   XP_054218718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,127,208 - 33,184,246 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001365424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365425 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365426 (Get FASTA)   NCBI Sequence Viewer  
  NP_001488 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279187 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218718 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35935 (Get FASTA)   NCBI Sequence Viewer  
  AAA35936 (Get FASTA)   NCBI Sequence Viewer  
  AAA35937 (Get FASTA)   NCBI Sequence Viewer  
  AAA68218 (Get FASTA)   NCBI Sequence Viewer  
  AAA68219 (Get FASTA)   NCBI Sequence Viewer  
  AAA68220 (Get FASTA)   NCBI Sequence Viewer  
  AAB00776 (Get FASTA)   NCBI Sequence Viewer  
  AAH45773 (Get FASTA)   NCBI Sequence Viewer  
  BAA06188 (Get FASTA)   NCBI Sequence Viewer  
  BAG35657 (Get FASTA)   NCBI Sequence Viewer  
  BAG59480 (Get FASTA)   NCBI Sequence Viewer  
  BAG59940 (Get FASTA)   NCBI Sequence Viewer  
  BAH14665 (Get FASTA)   NCBI Sequence Viewer  
  CAA01685 (Get FASTA)   NCBI Sequence Viewer  
  CAA31611 (Get FASTA)   NCBI Sequence Viewer  
  CAA32247 (Get FASTA)   NCBI Sequence Viewer  
  CAA39073 (Get FASTA)   NCBI Sequence Viewer  
  CAA39074 (Get FASTA)   NCBI Sequence Viewer  
  CAT03462 (Get FASTA)   NCBI Sequence Viewer  
  CDJ98631 (Get FASTA)   NCBI Sequence Viewer  
  CDJ98633 (Get FASTA)   NCBI Sequence Viewer  
  EAW58520 (Get FASTA)   NCBI Sequence Viewer  
  EAW58521 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000369055
  ENSP00000369055.4
  ENSP00000440341
  ENSP00000440341.1
GenBank Protein P15291 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001488   ⟸   NM_001497
- Peptide Label: isoform 1
- UniProtKB: Q14509 (UniProtKB/Swiss-Prot),   Q14456 (UniProtKB/Swiss-Prot),   Q12911 (UniProtKB/Swiss-Prot),   Q12910 (UniProtKB/Swiss-Prot),   Q12909 (UniProtKB/Swiss-Prot),   D3DRL2 (UniProtKB/Swiss-Prot),   B2R710 (UniProtKB/Swiss-Prot),   Q14523 (UniProtKB/Swiss-Prot),   P15291 (UniProtKB/Swiss-Prot),   B4DLB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365426   ⟸   NM_001378497
- Peptide Label: isoform 4
- UniProtKB: Q86XA6 (UniProtKB/TrEMBL),   W6MEN4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365425   ⟸   NM_001378496
- Peptide Label: isoform 3
- UniProtKB: W6MEN3 (UniProtKB/TrEMBL),   B4DLB8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365424   ⟸   NM_001378495
- Peptide Label: isoform 2
- UniProtKB: B4DLB8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000440341   ⟸   ENST00000535206
Ensembl Acc Id: ENSP00000369055   ⟸   ENST00000379731
RefSeq Acc Id: XP_047279187   ⟸   XM_047423231
- Peptide Label: isoform X1
- UniProtKB: Q14509 (UniProtKB/Swiss-Prot),   Q14456 (UniProtKB/Swiss-Prot),   Q12911 (UniProtKB/Swiss-Prot),   Q12910 (UniProtKB/Swiss-Prot),   Q12909 (UniProtKB/Swiss-Prot),   P15291 (UniProtKB/Swiss-Prot),   D3DRL2 (UniProtKB/Swiss-Prot),   B2R710 (UniProtKB/Swiss-Prot),   Q14523 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279188   ⟸   XM_047423232
- Peptide Label: isoform X2
- UniProtKB: B7ZAH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218718   ⟸   XM_054362743
- Peptide Label: isoform X2
- UniProtKB: B7ZAH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218717   ⟸   XM_054362742
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000520749   ⟸   ENST00000718311
Protein Domains
Galactosyltransferase C-terminal   Galactosyltransferase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15291-F1-model_v2 AlphaFold P15291 1-398 view protein structure

Promoters
RGD ID:6813576
Promoter ID:HG_ACW:80090
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:B4GALT1.EAPR07,   B4GALT1.FAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,125,681 - 33,126,181 (-)MPROMDB
RGD ID:6807259
Promoter ID:HG_KWN:62900
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052039
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,157,101 - 33,157,692 (-)MPROMDB
RGD ID:7214869
Promoter ID:EPDNEW_H13180
Type:initiation region
Name:B4GALT1_1
Description:beta-1,4-galactosyltransferase 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
GRCh38933,167,326 - 33,167,386EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:924 AgrOrtholog
COSMIC B4GALT1 COSMIC
Ensembl Genes ENSG00000086062 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379731 ENTREZGENE
  ENST00000379731.5 UniProtKB/Swiss-Prot
  ENST00000535206 ENTREZGENE
  ENST00000535206.5 UniProtKB/TrEMBL
GTEx ENSG00000086062 GTEx
HGNC ID HGNC:924 ENTREZGENE
Human Proteome Map B4GALT1 Human Proteome Map
InterPro Galactosyl_T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactosyl_T_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactosyl_T_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2683 UniProtKB/Swiss-Prot
NCBI Gene 2683 ENTREZGENE
OMIM 137060 OMIM
PANTHER BETA-1,4-GALACTOSYLTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_7C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_7N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25223 PharmGKB
PRINTS B14GALTRFASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R710 ENTREZGENE
  B4DLB8 ENTREZGENE, UniProtKB/TrEMBL
  B4GT1_HUMAN UniProtKB/Swiss-Prot
  B7ZAH9 ENTREZGENE, UniProtKB/TrEMBL
  D3DRL2 ENTREZGENE
  P15291 ENTREZGENE
  Q12909 ENTREZGENE
  Q12910 ENTREZGENE
  Q12911 ENTREZGENE
  Q14456 ENTREZGENE
  Q14509 ENTREZGENE
  Q14523 ENTREZGENE
  Q86XA6 ENTREZGENE, UniProtKB/TrEMBL
  W6MEN3 ENTREZGENE, UniProtKB/TrEMBL
  W6MEN4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R710 UniProtKB/Swiss-Prot
  D3DRL2 UniProtKB/Swiss-Prot
  Q12909 UniProtKB/Swiss-Prot
  Q12910 UniProtKB/Swiss-Prot
  Q12911 UniProtKB/Swiss-Prot
  Q14456 UniProtKB/Swiss-Prot
  Q14509 UniProtKB/Swiss-Prot
  Q14523 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 B4GALT1  beta-1,4-galactosyltransferase 1  B4GALT1  UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1  Symbol and/or name change 5135510 APPROVED