DGAT1 (diacylglycerol O-acyltransferase 1) - Rat Genome Database

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Gene: DGAT1 (diacylglycerol O-acyltransferase 1) Homo sapiens
Analyze
Symbol: DGAT1
Name: diacylglycerol O-acyltransferase 1
RGD ID: 731052
HGNC Page HGNC
Description: Enables diacylglycerol O-acyltransferase activity and identical protein binding activity. Involved in diacylglycerol metabolic process; monoacylglycerol biosynthetic process; and very-low-density lipoprotein particle assembly. Acts upstream of or within triglyceride biosynthetic process. Is integral component of membrane. Implicated in cardiomyopathy and congenital diarrhea 7 with exudative enteropathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAT related gene product 1; ACAT-related gene product 1; acyl coenzyme A:cholesterol acyltransferase related gene 1; acyl-CoA retinol O-fatty-acyltransferase; acyl-CoA:diacylglycerol acyltransferase; ARAT; ARGP1; DGAT; diacylglycerol O-acyltransferase (mouse) homolog; diacylglycerol O-acyltransferase homolog; diacylglycerol O-acyltransferase homolog 1; DIAR7; diglyceride acyltransferase; retinol O-fatty-acyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,314,584 - 144,326,910 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,314,584 - 144,326,852 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,538,247 - 145,550,515 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,510,762 - 145,521,375 (-)NCBINCBI36hg18NCBI36
Build 348145,510,762 - 145,521,350NCBI
Celera8141,713,015 - 141,725,223 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,652,765 - 140,665,081 (-)NCBIHuRef
CHM1_18145,576,522 - 145,588,858 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-mevalonic acid  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alcohol  (ISO)
all-trans-retinol  (EXP)
amiodarone  (EXP,ISO)
amlexanox  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
apigenin  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atorvastatin calcium  (ISO)
baicalein  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzylpenicillin  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
carbendazim  (ISO)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
ciglitazone  (ISO)
cisplatin  (EXP)
clofazimine  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dexamethasone  (EXP,ISO)
diazinon  (EXP)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioscin  (ISO)
doxorubicin  (EXP,ISO)
erythromycin A  (ISO)
ethanol  (EXP,ISO)
farnesol  (EXP)
fluoxetine  (ISO)
folic acid  (ISO)
fructose  (ISO)
glutathione  (ISO)
GW 4064  (EXP)
hexadecanoic acid  (ISO)
hydrogen peroxide  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
liraglutide  (ISO)
menadione  (EXP)
methotrexate  (EXP)
microcystin-LR  (ISO)
nefazodone  (ISO)
O-methyleugenol  (EXP)
oleic acid  (EXP)
omeprazole  (ISO)
palmitoyl-CoA  (EXP)
paracetamol  (EXP,ISO)
penconazole  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
procymidone  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sucrose  (ISO)
tectoridin  (ISO)
testosterone  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
Tris(2-ethylhexyl) phosphate  (EXP)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

Additional References at PubMed
PMID:3104518   PMID:8889548   PMID:8944226   PMID:9756920   PMID:9789033   PMID:11181995   PMID:11672446   PMID:11959864   PMID:12401709   PMID:12477932   PMID:14557275   PMID:15258194  
PMID:15308631   PMID:15380446   PMID:15489334   PMID:16214399   PMID:16306352   PMID:16870193   PMID:16894240   PMID:17510710   PMID:18238778   PMID:18458083   PMID:18757836   PMID:18768481  
PMID:19197254   PMID:20167659   PMID:20935628   PMID:21369919   PMID:21846726   PMID:21873635   PMID:21988832   PMID:22748069   PMID:23114594   PMID:23317570   PMID:23420847   PMID:24118885  
PMID:24573674   PMID:24899196   PMID:25740267   PMID:26186194   PMID:26493024   PMID:26638075   PMID:26883093   PMID:28298427   PMID:28373485   PMID:28420705   PMID:28514442   PMID:28768178  
PMID:28877685   PMID:29509190   PMID:29604290   PMID:30095213   PMID:30790345   PMID:30816200   PMID:30853196   PMID:31527615   PMID:31778854   PMID:32433610   PMID:32433611   PMID:32559414  
PMID:33750350   PMID:33824421   PMID:33961781  


Genomics

Comparative Map Data
DGAT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,314,584 - 144,326,910 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,314,584 - 144,326,852 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,538,247 - 145,550,515 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,510,762 - 145,521,375 (-)NCBINCBI36hg18NCBI36
Build 348145,510,762 - 145,521,350NCBI
Celera8141,713,015 - 141,725,223 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,652,765 - 140,665,081 (-)NCBIHuRef
CHM1_18145,576,522 - 145,588,858 (-)NCBICHM1_1
Dgat1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,386,212 - 76,396,225 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,386,215 - 76,396,153 (-)Ensembl
GRCm381576,502,012 - 76,512,021 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,502,015 - 76,511,953 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,332,445 - 76,342,248 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,329,270 - 76,339,073 (-)NCBImm8
Celera1578,002,555 - 78,012,327 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.99NCBI
Dgat1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,223,860 - 108,235,413 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7108,218,524 - 108,234,299 (-)Ensembl
Rnor_6.07117,566,363 - 117,576,735 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,566,368 - 117,576,737 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,553,994 - 117,564,366 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,552,051 - 114,562,423 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,586,280 - 114,596,650 (-)NCBI
Celera7104,575,393 - 104,585,762 (-)NCBICelera
Cytogenetic Map7q34NCBI
Dgat1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,934,152 - 2,944,492 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,933,904 - 2,944,675 (-)NCBIChiLan1.0ChiLan1.0
DGAT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,069,450 - 144,080,155 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,064,587 - 144,080,155 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,079,948 - 141,090,619 (-)NCBIMhudiblu_PPA_v0panPan3
DGAT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,745,395 - 37,761,337 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,741,706 - 37,756,916 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,708,975 - 37,723,874 (-)NCBI
ROS_Cfam_1.01338,221,616 - 38,236,548 (-)NCBI
UMICH_Zoey_3.11337,913,768 - 37,928,659 (-)NCBI
UNSW_CanFamBas_1.01338,022,406 - 38,037,326 (-)NCBI
UU_Cfam_GSD_1.01338,498,732 - 38,513,659 (-)NCBI
Dgat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303490,312 - 499,990 (+)NCBI
SpeTri2.0NW_0049364707,916,438 - 7,926,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DGAT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4452,861 - 466,883 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14452,890 - 463,665 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24599,685 - 609,272 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DGAT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,531,113 - 138,541,721 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,531,384 - 138,541,637 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660391,321,925 - 1,332,539 (+)NCBIVero_WHO_p1.0
Dgat1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,525,120 - 12,535,436 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH79683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,538,097 - 145,538,360UniSTSGRCh37
Build 368145,508,905 - 145,509,168RGDNCBI36
Celera8141,712,865 - 141,713,128RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,652,616 - 140,652,879UniSTS
GeneMap99-GB4 RH Map8563.95UniSTS
D8S1577E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,540,003 - 145,540,078UniSTSGRCh37
Build 368145,510,811 - 145,510,886RGDNCBI36
Celera8141,714,771 - 141,714,846RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,654,522 - 140,654,597UniSTS
DGAT1_8848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,539,755 - 145,540,344UniSTSGRCh37
Build 368145,510,563 - 145,511,152RGDNCBI36
Celera8141,714,523 - 141,715,112RGD
HuRef8140,654,274 - 140,654,863UniSTS
STS-M64673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,538,135 - 145,538,322UniSTSGRCh37
Build 368145,508,943 - 145,509,130RGDNCBI36
Celera8141,712,903 - 141,713,090RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,652,654 - 140,652,841UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19635812
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19635812

Predicted Target Of
Summary Value
Count of predictions:3402
Count of miRNA genes:847
Interacting mature miRNAs:1031
Transcripts:ENST00000332324, ENST00000524844, ENST00000524965, ENST00000525371, ENST00000526479, ENST00000527438, ENST00000527885, ENST00000528718, ENST00000531896
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2427 2891 1718 620 1847 462 4345 2132 3225 408 1442 1605 171 1204 2786 3
Low 10 96 5 4 102 3 11 62 486 10 7 4 1 2 1 2
Below cutoff 1 3 1 2 1 10 1 8 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB057815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC142402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI907285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK300256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY016503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000332324   ⟹   ENSP00000332258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,316,325 - 144,326,910 (-)Ensembl
RefSeq Acc Id: ENST00000524844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,317,075 - 144,318,321 (-)Ensembl
RefSeq Acc Id: ENST00000524965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,316,320 - 144,318,724 (-)Ensembl
RefSeq Acc Id: ENST00000525371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,318,094 - 144,326,667 (-)Ensembl
RefSeq Acc Id: ENST00000527885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,316,843 - 144,317,633 (-)Ensembl
RefSeq Acc Id: ENST00000528718   ⟹   ENSP00000482264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,314,584 - 144,326,852 (-)Ensembl
RefSeq Acc Id: ENST00000531896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,317,917 - 144,326,674 (-)Ensembl
RefSeq Acc Id: ENST00000620428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,314,590 - 144,315,138 (-)Ensembl
RefSeq Acc Id: NM_012079   ⟹   NP_036211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,314,584 - 144,326,852 (-)NCBI
GRCh378145,538,246 - 145,550,582 (-)NCBI
Build 368145,510,762 - 145,521,375 (-)NCBI Archive
HuRef8140,652,765 - 140,665,081 (-)NCBI
CHM1_18145,576,522 - 145,588,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517356   ⟹   XP_011515658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,316,291 - 144,324,820 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036211   ⟸   NM_012079
- UniProtKB: O75907 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515658   ⟸   XM_011517356
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000332258   ⟸   ENST00000332324
RefSeq Acc Id: ENSP00000482264   ⟸   ENST00000528718

Promoters
RGD ID:7214463
Promoter ID:EPDNEW_H12971
Type:initiation region
Name:DGAT1_1
Description:diacylglycerol O-acyltransferase 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
GRCh388144,326,852 - 144,326,912EPDNEW
RGD ID:6813380
Promoter ID:HG_ACW:79419
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:DGAT1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,515,881 - 145,516,687 (-)MPROMDB
RGD ID:6806606
Promoter ID:HG_KWN:62331
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012079,   UC010MFV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,521,051 - 145,521,551 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
null deletion Diarrhea 7 [RCV000660629]|not provided [RCV001584520] Chr8:144318306..144318308 [GRCh38]
Chr8:145541969..145541971 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
NM_012079.6(DGAT1):c.751+2T>C single nucleotide variant Diarrhea 7 [RCV000128413]|Inborn genetic diseases [RCV001266236]|not provided [RCV001382858] Chr8:144318093 [GRCh38]
Chr8:145541756 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012079.6(DGAT1):c.805C>T (p.Arg269Cys) single nucleotide variant Diarrhea 7 [RCV001331728] Chr8:144317964 [GRCh38]
Chr8:145541627 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.884T>C (p.Leu295Pro) single nucleotide variant Diarrhea 7 [RCV000201459] Chr8:144317794 [GRCh38]
Chr8:145541457 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_012079.6(DGAT1):c.1311+1G>A single nucleotide variant not provided [RCV000579284] Chr8:144316852 [GRCh38]
Chr8:145540515 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_012079.6(DGAT1):c.1462del (p.Ala488fs) deletion not provided [RCV000599300] Chr8:144316559 [GRCh38]
Chr8:145540222 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145487123-145554934)x3 copy number gain See cases [RCV000445849] Chr8:145487123..145554934 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.1260C>G (p.Ser420Arg) single nucleotide variant not provided [RCV000436889] Chr8:144316904 [GRCh38]
Chr8:145540567 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser) single nucleotide variant not provided [RCV000483585] Chr8:144317972 [GRCh38]
Chr8:145541635 [GRCh37]
Chr8:8q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_012079.6(DGAT1):c.676+1G>A single nucleotide variant not provided [RCV000481953] Chr8:144318260 [GRCh38]
Chr8:145541923 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_012079.6(DGAT1):c.579C>T (p.Gly193=) single nucleotide variant not provided [RCV001510558]|not specified [RCV000454601] Chr8:144318358 [GRCh38]
Chr8:145542021 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg) single nucleotide variant not provided [RCV001517545]|not specified [RCV000455264] Chr8:144318712 [GRCh38]
Chr8:145542375 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_012079.6(DGAT1):c.743C>A (p.Thr248Asn) single nucleotide variant not provided [RCV001510557]|not specified [RCV000455982] Chr8:144318103 [GRCh38]
Chr8:145541766 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1007TCT[2] (p.Phe338del) microsatellite not provided [RCV000486981] Chr8:144317412..144317414 [GRCh38]
Chr8:145541075..145541077 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145536497-145562111)x1 copy number loss not provided [RCV000748012] Chr8:145536497..145562111 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145567438)x1 copy number loss not provided [RCV000748013] Chr8:145536497..145567438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145567872)x1 copy number loss not provided [RCV000748014] Chr8:145536497..145567872 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145574608)x1 copy number loss not provided [RCV000748015] Chr8:145536497..145574608 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537235-145567438)x1 copy number loss not provided [RCV000748016] Chr8:145537235..145567438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537339-145561963)x3 copy number gain not provided [RCV000748017] Chr8:145537339..145561963 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537339-145562215)x1 copy number loss not provided [RCV000748018] Chr8:145537339..145562215 [GRCh37]
Chr8:8q24.3
benign
NM_017757.3(ZNF407):c.2814_2816dup (p.Val939dup) AND SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, single nucleotide variant not provided [RCV000914877] Chr8:144316567 [GRCh38]
Chr8:145540230 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1050T>G (p.Ala350=) single nucleotide variant not provided [RCV000923502] Chr8:144317377 [GRCh38]
Chr8:145541040 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.1407C>T (p.Val469=) single nucleotide variant not provided [RCV000895944] Chr8:144316614 [GRCh38]
Chr8:145540277 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.889del (p.Gln297fs) deletion Diarrhea 7 [RCV000988126] Chr8:144317789 [GRCh38]
Chr8:145541452 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter) single nucleotide variant Diarrhea 7 [RCV000988127] Chr8:144317931 [GRCh38]
Chr8:145541594 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_012079.6(DGAT1):c.981+1G>T single nucleotide variant Diarrhea 7 [RCV000844890] Chr8:144317543 [GRCh38]
Chr8:145541206 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_012079.6(DGAT1):c.1310A>G (p.Gln437Arg) single nucleotide variant Diarrhea 7 [RCV000844891] Chr8:144316854 [GRCh38]
Chr8:145540517 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_012079.6(DGAT1):c.5del (p.Gly2fs) deletion Diarrhea 7 [RCV001007932] Chr8:144326632 [GRCh38]
Chr8:145550295 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
null single nucleotide variant not provided [RCV001675077] Chr8:144326675 [GRCh38]
Chr8:145550338 [GRCh37]
Chr8:8q24.3
benign
null single nucleotide variant not provided [RCV001665978] Chr8:144327213 [GRCh38]
Chr8:145550876 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1401A>T (p.Ile467=) single nucleotide variant not provided [RCV000975200] Chr8:144316620 [GRCh38]
Chr8:145540283 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.677-4G>A single nucleotide variant not provided [RCV000966374] Chr8:144318173 [GRCh38]
Chr8:145541836 [GRCh37]
Chr8:8q24.3
benign
null single nucleotide variant not provided [RCV001617134] Chr8:144318653 [GRCh38]
Chr8:145542316 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
null single nucleotide variant not provided [RCV001611067] Chr8:144327017 [GRCh38]
Chr8:145550680 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1073G>C (p.Arg358Pro) single nucleotide variant Diarrhea 7 [RCV001250059] Chr8:144317354 [GRCh38]
Chr8:145541017 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_012079.6(DGAT1):c.634C>T (p.Arg212Cys) single nucleotide variant Diarrhea 7 [RCV001331727] Chr8:144318303 [GRCh38]
Chr8:145541966 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.713C>T (p.Pro238Leu) single nucleotide variant not provided [RCV001341598] Chr8:144318133 [GRCh38]
Chr8:145541796 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.772G>A (p.Ala258Thr) single nucleotide variant not provided [RCV001302410] Chr8:144317997 [GRCh38]
Chr8:145541660 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.1094G>A (p.Trp365Ter) single nucleotide variant not provided [RCV001382624] Chr8:144317333 [GRCh38]
Chr8:145540996 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012079.6(DGAT1):c.408G>A (p.Leu136=) single nucleotide variant not provided [RCV001412504] Chr8:144318842 [GRCh38]
Chr8:145542505 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.1374G>A (p.Trp458Ter) single nucleotide variant not provided [RCV001361756] Chr8:144316647 [GRCh38]
Chr8:145540310 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_012079.6(DGAT1):c.1215_1216del (p.Phe408fs) deletion Diarrhea 7 [RCV001333651] Chr8:144317054..144317055 [GRCh38]
Chr8:145540717..145540718 [GRCh37]
Chr8:8q24.3
pathogenic
NM_012079.6(DGAT1):c.149C>A (p.Ala50Asp) single nucleotide variant not provided [RCV001371366] Chr8:144326488 [GRCh38]
Chr8:145550151 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.626T>C (p.Phe209Ser) single nucleotide variant not provided [RCV001309677] Chr8:144318311 [GRCh38]
Chr8:145541974 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.200+4G>A single nucleotide variant not provided [RCV001324917] Chr8:144326433 [GRCh38]
Chr8:145550096 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.1094+17_1094+27del microsatellite not provided [RCV001295804] Chr8:144317306..144317316 [GRCh38]
Chr8:145540969..145540979 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.443T>G (p.Phe148Cys) single nucleotide variant not provided [RCV001299994] Chr8:144318724 [GRCh38]
Chr8:145542387 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.748C>T (p.Arg250Cys) single nucleotide variant not provided [RCV001367399] Chr8:144318098 [GRCh38]
Chr8:145541761 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.820C>A (p.Arg274=) single nucleotide variant not provided [RCV001359629] Chr8:144317949 [GRCh38]
Chr8:145541612 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_012079.6(DGAT1):c.1329C>T (p.Phe443=) single nucleotide variant not provided [RCV001450421] Chr8:144316692 [GRCh38]
Chr8:145540355 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.792G>A (p.Glu264=) single nucleotide variant not provided [RCV001522948] Chr8:144317977 [GRCh38]
Chr8:145541640 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1311+9C>T single nucleotide variant not provided [RCV001487742] Chr8:144316844 [GRCh38]
Chr8:145540507 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.751+17del deletion not provided [RCV001496112] Chr8:144318078 [GRCh38]
Chr8:145541741 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.1464C>T (p.Ala488=) single nucleotide variant not provided [RCV001402683] Chr8:144316557 [GRCh38]
Chr8:145540220 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.1335C>T (p.Gly445=) single nucleotide variant not provided [RCV001520237] Chr8:144316686 [GRCh38]
Chr8:145540349 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.981+11A>C single nucleotide variant not provided [RCV001462029] Chr8:144317533 [GRCh38]
Chr8:145541196 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.289-4G>A single nucleotide variant not provided [RCV001415743] Chr8:144319072 [GRCh38]
Chr8:145542735 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.855+9G>C single nucleotide variant not provided [RCV001449520] Chr8:144317905 [GRCh38]
Chr8:145541568 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.200+18C>T single nucleotide variant not provided [RCV001519517] Chr8:144326419 [GRCh38]
Chr8:145550082 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1094+13G>C single nucleotide variant not provided [RCV001457664] Chr8:144317320 [GRCh38]
Chr8:145540983 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.1094+16del deletion not provided [RCV001509720] Chr8:144317317 [GRCh38]
Chr8:145540980 [GRCh37]
Chr8:8q24.3
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001716730] Chr8:144321057 [GRCh38]
Chr8:145544720 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.465G>A (p.Ala155=) single nucleotide variant not provided [RCV001513564] Chr8:144318702 [GRCh38]
Chr8:145542365 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.856-3C>T single nucleotide variant not provided [RCV001512640] Chr8:144317825 [GRCh38]
Chr8:145541488 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.921C>T (p.Ser307=) single nucleotide variant not provided [RCV001399478] Chr8:144317686 [GRCh38]
Chr8:145541349 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.415+10G>A single nucleotide variant not provided [RCV001501669] Chr8:144318825 [GRCh38]
Chr8:145542488 [GRCh37]
Chr8:8q24.3
likely benign
NM_012079.6(DGAT1):c.330-14C>A single nucleotide variant not provided [RCV001523053] Chr8:144318934 [GRCh38]
Chr8:145542597 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.789C>T (p.Tyr263=) single nucleotide variant not provided [RCV001514956] Chr8:144317980 [GRCh38]
Chr8:145541643 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.21C>T (p.Ser7=) single nucleotide variant not provided [RCV001519160] Chr8:144326616 [GRCh38]
Chr8:145550279 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.1422C>T (p.His474=) single nucleotide variant not provided [RCV001517813] Chr8:144316599 [GRCh38]
Chr8:145540262 [GRCh37]
Chr8:8q24.3
benign
NM_012079.6(DGAT1):c.200+11G>T single nucleotide variant not provided [RCV001428132] Chr8:144326426 [GRCh38]
Chr8:145550089 [GRCh37]
Chr8:8q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2843 AgrOrtholog
COSMIC DGAT1 COSMIC
Ensembl Genes ENSG00000185000 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285482 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000332258 UniProtKB/TrEMBL
  ENSP00000482264 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495489 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000332324 UniProtKB/TrEMBL
  ENST00000528718 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644790 UniProtKB/Swiss-Prot
GTEx ENSG00000185000 GTEx
  ENSG00000285482 GTEx
HGNC ID HGNC:2843 ENTREZGENE
Human Proteome Map DGAT1 Human Proteome Map
InterPro Diacylglycerol_acylTrfase1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MBOAT_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oat_ACAT_DAG_ARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8694 UniProtKB/Swiss-Prot
NCBI Gene 8694 ENTREZGENE
OMIM 604900 OMIM
  615863 OMIM
PANTHER PTHR10408 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MBOAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27303 PharmGKB
PIRSF Oat_ACAT_DAG_ARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oat_dag UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MR74_HUMAN UniProtKB/TrEMBL
  DGAT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3KQR6_HUMAN UniProtKB/TrEMBL
  Q9BRH5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RWQ2 UniProtKB/Swiss-Prot
  D3DWL6 UniProtKB/Swiss-Prot
  Q96BB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 DGAT1  diacylglycerol O-acyltransferase 1  DGAT1  diacylglycerol O-acyltransferase homolog 1 (mouse)  Symbol and/or name change 5135510 APPROVED