ABCG5 (ATP binding cassette subfamily G member 5) - Rat Genome Database

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Gene: ABCG5 (ATP binding cassette subfamily G member 5) Homo sapiens
Analyze
Symbol: ABCG5
Name: ATP binding cassette subfamily G member 5
RGD ID: 732219
HGNC Page HGNC
Description: Enables ATPase-coupled transmembrane transporter activity and protein heterodimerization activity. Contributes to ATP binding activity; ATP hydrolysis activity; and cholesterol transfer activity. Involved in several processes, including cholesterol efflux; cholesterol homeostasis; and negative regulation of intestinal lipid absorption. Located in apical plasma membrane. Part of ATP-binding activity cassette (ABC) transporter complex and receptor complex. Implicated in arteriosclerosis and sitosterolemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-binding cassette sub-family G member 5; ATP-binding cassette, sub-family G (WHITE), member 5; ATP-binding cassette, subfamily G, member 5; sterolin 1; sterolin-1; STSL; STSL2
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 Ensembl243,812,472 - 43,838,865 (-)EnsemblGRCh38hg38GRCh38
GRCh38243,806,154 - 43,838,840 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37244,039,611 - 44,065,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,893,115 - 43,919,462 (-)NCBINCBI36hg18NCBI36
Build 34243,951,261 - 43,977,609NCBI
Celera243,878,347 - 43,904,690 (-)NCBI
Cytogenetic Map2p21NCBI
HuRef243,776,307 - 43,802,654 (-)NCBIHuRef
CHM1_1243,969,007 - 43,995,357 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2,3-trilinolenoylglycerol  (ISO)
1,2,3-trilinoleoylglycerol  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7-ketocholesterol  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
androst-4-ene-3,17-dione  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atorvastatin calcium  (ISO)
azathioprine  (ISO)
aztreonam  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bosentan  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chenodeoxycholic acid  (EXP,ISO)
chlorohydrocarbon  (EXP,ISO)
cholate  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (EXP,ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dehydroepiandrosterone  (EXP)
deoxycholic acid  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
diosgenin  (ISO)
doxycycline  (ISO)
erythromycin estolate  (ISO)
fenofibrate  (ISO)
fipronil  (ISO)
furan  (ISO)
genistein  (EXP)
glafenine  (ISO)
glyburide  (ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
GW 3965  (ISO)
GW 4064  (ISO)
imipenem hydrate  (ISO)
indole-3-methanol  (ISO)
L-ethionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (EXP,ISO)
lovastatin  (ISO)
metformin  (ISO)
methylmercury chloride  (ISO)
methyltestosterone  (EXP)
mirex  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
O-methyleugenol  (EXP)
oltipraz  (ISO)
omeprazole  (ISO)
oxycodone  (ISO)
paracetamol  (EXP)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perhexiline  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP,ISO)
quinolin-8-ol  (EXP)
rotenone  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
spironolactone  (ISO)
stigmasterol  (EXP)
streptozocin  (ISO)
tamoxifen  (ISO)
tebuconazole  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
triadimefon  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9727073   PMID:11138003   PMID:11435688   PMID:11590207   PMID:11668628   PMID:11855938   PMID:11907139   PMID:12124998   PMID:12150943   PMID:12208867   PMID:12208868   PMID:12220438  
PMID:12477932   PMID:14504269   PMID:14702039   PMID:14703505   PMID:15121760   PMID:15175352   PMID:15262185   PMID:15311998   PMID:15520451   PMID:15611112   PMID:15816807   PMID:15930516  
PMID:15980630   PMID:16250035   PMID:16472606   PMID:16518588   PMID:16614398   PMID:16870176   PMID:16893193   PMID:16980816   PMID:17055487   PMID:17098593   PMID:17102949   PMID:17403900  
PMID:17474147   PMID:17612515   PMID:17626266   PMID:17632509   PMID:17690481   PMID:17827468   PMID:18007013   PMID:18457353   PMID:18522623   PMID:18581044   PMID:18641716   PMID:18660489  
PMID:18850127   PMID:18996102   PMID:19005228   PMID:19012522   PMID:19019257   PMID:19060911   PMID:19111681   PMID:19217458   PMID:19270375   PMID:19306529   PMID:19343046   PMID:19692220  
PMID:19878569   PMID:19913121   PMID:19917453   PMID:19936222   PMID:19956635   PMID:20170916   PMID:20172523   PMID:20210363   PMID:20370913   PMID:20403997   PMID:20413122   PMID:20497293  
PMID:20521169   PMID:20581104   PMID:20602615   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20855565   PMID:21873635   PMID:22655090   PMID:22898925   PMID:23179156   PMID:23556150  
PMID:23790976   PMID:24097068   PMID:24252657   PMID:24498041   PMID:24584735   PMID:24623560   PMID:24657701   PMID:24691589   PMID:24811295   PMID:26088706   PMID:26892138   PMID:27052530  
PMID:27144356   PMID:27170062   PMID:27981300   PMID:28521186   PMID:28625976   PMID:28696550   PMID:29066094   PMID:29920211   PMID:31327807   PMID:31901240   PMID:32088153   PMID:32166861  
PMID:32275988   PMID:32705597   PMID:33228147   PMID:33807969  


Genomics

Comparative Map Data
ABCG5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl243,812,472 - 43,838,865 (-)EnsemblGRCh38hg38GRCh38
GRCh38243,806,154 - 43,838,840 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37244,039,611 - 44,065,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36243,893,115 - 43,919,462 (-)NCBINCBI36hg18NCBI36
Build 34243,951,261 - 43,977,609NCBI
Celera243,878,347 - 43,904,690 (-)NCBI
Cytogenetic Map2p21NCBI
HuRef243,776,307 - 43,802,654 (-)NCBIHuRef
CHM1_1243,969,007 - 43,995,357 (-)NCBICHM1_1
Abcg5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391784,965,602 - 84,990,439 (-)NCBIGRCm39mm39
GRCm39 Ensembl1784,965,662 - 84,990,439 (-)Ensembl
GRCm381784,658,174 - 84,683,011 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1784,658,234 - 84,683,011 (-)EnsemblGRCm38mm10GRCm38
MGSCv371785,057,574 - 85,082,263 (-)NCBIGRCm37mm9NCBIm37
MGSCv361784,566,560 - 84,591,249 (-)NCBImm8
Celera1789,024,999 - 89,050,375 (-)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1755.02NCBI
Abcg5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.269,965,118 - 9,990,563 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl69,965,118 - 9,990,563 (+)Ensembl
Rnor_6.067,935,771 - 7,961,207 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl67,935,771 - 7,961,207 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.067,871,269 - 7,896,799 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.468,027,647 - 8,064,425 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.168,027,646 - 8,064,425 (-)NCBI
Celera69,686,706 - 9,712,114 (+)NCBICelera
Cytogenetic Map6q12NCBI
Abcg5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544110,964,858 - 10,986,967 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544110,964,588 - 10,987,771 (-)NCBIChiLan1.0ChiLan1.0
ABCG5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A44,745,183 - 44,771,012 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A44,745,183 - 44,771,012 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A43,896,188 - 43,922,756 (-)NCBIMhudiblu_PPA_v0panPan3
ABCG5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11046,261,747 - 46,300,084 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1046,271,772 - 46,299,773 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1046,123,805 - 46,173,246 (-)NCBI
ROS_Cfam_1.01047,140,680 - 47,190,102 (-)NCBI
UMICH_Zoey_3.11046,849,037 - 46,898,531 (-)NCBI
UNSW_CanFamBas_1.01047,138,987 - 47,188,120 (-)NCBI
UU_Cfam_GSD_1.01047,322,375 - 47,371,811 (-)NCBI
Abcg5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629236,665,097 - 36,688,553 (+)NCBI
SpeTri2.0NW_0049365088,093,804 - 8,117,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCG5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl396,616,246 - 96,656,893 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1396,616,304 - 96,656,893 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23102,776,822 - 102,782,661 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCG5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11463,414,241 - 63,439,193 (+)NCBI
ChlSab1.1 Ensembl1463,413,691 - 63,438,917 (+)Ensembl
Vero_WHO_p1.0NW_02366604548,447,921 - 48,472,592 (-)NCBI
Abcg5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473825,287,574 - 25,310,643 (-)NCBI

Position Markers
D2S1788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37236,260,306 - 36,260,495UniSTSGRCh37
Build 36236,113,810 - 36,113,999RGDNCBI36
Celera236,096,307 - 36,096,496RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p22.3-p21UniSTS
HuRef235,993,843 - 35,994,000UniSTS
Marshfield Genetic Map255.51UniSTS
Marshfield Genetic Map255.51RGD
Whitehead-YAC Contig Map2 UniSTS
D2S1352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37250,833,714 - 50,833,825UniSTSGRCh37
Build 36250,687,218 - 50,687,329RGDNCBI36
Celera250,673,846 - 50,673,963RGD
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map2p21UniSTS
HuRef250,567,858 - 50,567,975UniSTS
Marshfield Genetic Map273.61UniSTS
Marshfield Genetic Map273.61RGD
Whitehead-YAC Contig Map2 UniSTS
RH70461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,040,043 - 44,040,208UniSTSGRCh37
Build 36243,893,547 - 43,893,712RGDNCBI36
Celera243,878,779 - 43,878,944RGD
Cytogenetic Map2p21UniSTS
HuRef243,776,739 - 43,776,904UniSTS
GeneMap99-GB4 RH Map2130.01UniSTS
NCBI RH Map2291.6UniSTS
RH27092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,046,725 - 44,046,928UniSTSGRCh37
Build 36243,900,229 - 43,900,432RGDNCBI36
Celera243,885,461 - 43,885,664RGD
Cytogenetic Map2p21UniSTS
HuRef243,783,421 - 43,783,624UniSTS
ABCG5_2000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,039,574 - 44,040,306UniSTSGRCh37
Build 36243,893,078 - 43,893,810RGDNCBI36
Celera243,878,310 - 43,879,042RGD
HuRef243,776,270 - 43,777,002UniSTS
RH70519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37244,046,699 - 44,046,859UniSTSGRCh37
Build 36243,900,203 - 43,900,363RGDNCBI36
Celera243,885,435 - 43,885,595RGD
Cytogenetic Map2p21UniSTS
HuRef243,783,395 - 43,783,555UniSTS
GeneMap99-GB4 RH Map2130.63UniSTS
NCBI RH Map2291.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1967
Count of miRNA genes:571
Interacting mature miRNAs:626
Transcripts:ENST00000260645, ENST00000405322, ENST00000409962, ENST00000486512, ENST00000543989
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
High
Medium 8 401 401 5 401 1
Low 176 13 50 28 181 29 40 4 109 90 148 16 10 3
Below cutoff 2039 2342 1213 176 820 21 3760 1732 3478 246 1194 1338 158 1147 2386 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF312715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000405322   ⟹   ENSP00000384513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,472 - 43,838,839 (-)Ensembl
RefSeq Acc Id: ENST00000409962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,843 - 43,838,865 (-)Ensembl
RefSeq Acc Id: ENST00000486512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,560 - 43,838,750 (-)Ensembl
RefSeq Acc Id: ENST00000644754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl243,812,560 - 43,838,752 (-)Ensembl
RefSeq Acc Id: NM_022436   ⟹   NP_071881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,472 - 43,838,839 (-)NCBI
GRCh37244,039,611 - 44,066,039 (-)NCBI
Build 36243,893,115 - 43,919,462 (-)NCBI Archive
HuRef243,776,307 - 43,802,654 (-)ENTREZGENE
CHM1_1243,969,007 - 43,995,357 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264480   ⟹   XP_005264537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,813,190 - 43,838,840 (-)NCBI
GRCh37244,039,611 - 44,066,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712073   ⟹   XP_006712136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,806,154 - 43,838,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712074   ⟹   XP_006712137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,824,460 - 43,838,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533024   ⟹   XP_011531326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,320 - 43,838,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533025   ⟹   XP_011531327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,320 - 43,838,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533026   ⟹   XP_011531328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,320 - 43,838,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533027   ⟹   XP_011531329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,320 - 43,838,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533028   ⟹   XP_011531330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,812,320 - 43,828,071 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071881   ⟸   NM_022436
- UniProtKB: Q9H222 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264537   ⟸   XM_005264480
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006712136   ⟸   XM_006712073
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006712137   ⟸   XM_006712074
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011531327   ⟸   XM_011533025
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011531329   ⟸   XM_011533027
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011531328   ⟸   XM_011533026
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011531326   ⟸   XM_011533024
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011531330   ⟸   XM_011533028
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000384513   ⟸   ENST00000405322
Promoters
RGD ID:6860194
Promoter ID:EPDNEW_H3262
Type:initiation region
Name:ABCG5_1
Description:ATP binding cassette subfamily G member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3264  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,838,839 - 43,838,899EPDNEW
RGD ID:6860198
Promoter ID:EPDNEW_H3264
Type:initiation region
Name:ABCG5_2
Description:ATP binding cassette subfamily G member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3262  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38243,839,258 - 43,839,318EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter) single nucleotide variant Sitosterolemia 2 [RCV000023441] Chr2:43838634 [GRCh38]
Chr2:44065773 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) single nucleotide variant Sitosterolemia 2 [RCV000856568]|Sitosterolemia [RCV000023442]|not provided [RCV001508988] Chr2:43822924 [GRCh38]
Chr2:44050063 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) single nucleotide variant Sitosterolemia 2 [RCV000005264] Chr2:43824015 [GRCh38]
Chr2:44051154 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter) single nucleotide variant Sitosterolemia 2 [RCV000005265] Chr2:43826429 [GRCh38]
Chr2:44053568 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1256G>A (p.Arg419His) single nucleotide variant Sitosterolemia 2 [RCV000005266] Chr2:43823981 [GRCh38]
Chr2:44051120 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro) single nucleotide variant Sitosterolemia 2 [RCV000005267] Chr2:43823981 [GRCh38]
Chr2:44051120 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) single nucleotide variant Sitosterolemia 2 [RCV000005268]|Sitosterolemia [RCV001232197] Chr2:43824071 [GRCh38]
Chr2:44051210 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter) single nucleotide variant Sitosterolemia 2 [RCV000005269] Chr2:43837870 [GRCh38]
Chr2:44065009 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) single nucleotide variant Sitosterolemia 2 [RCV001263007]|Sitosterolemia [RCV000823558]|not provided [RCV000729796] Chr2:43831957 [GRCh38]
Chr2:44059096 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) single nucleotide variant not provided [RCV000728786] Chr2:43832024 [GRCh38]
Chr2:44059163 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) single nucleotide variant not provided [RCV000728787] Chr2:43832049 [GRCh38]
Chr2:44059188 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) single nucleotide variant Sitosterolemia 1 [RCV001141535]|Sitosterolemia [RCV001327110]|Thrombocytopenia [RCV000852063]|not provided [RCV000729611] Chr2:43813202 [GRCh38]
Chr2:44040341 [GRCh37]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_022436.2(ABCG5):c.327C>T (p.Phe109=) single nucleotide variant Malignant melanoma [RCV000065597] Chr2:43832022 [GRCh38]
Chr2:44059161 [GRCh37]
Chr2:43912665 [NCBI36]
Chr2:2p21
not provided
NM_022436.2(ABCG5):c.1223G>A (p.Arg408Gln) single nucleotide variant Malignant melanoma [RCV000060572] Chr2:43824014 [GRCh38]
Chr2:44051153 [GRCh37]
Chr2:43904657 [NCBI36]
Chr2:2p21
not provided
NM_022436.3(ABCG5):c.1763-7T>G single nucleotide variant Sitosterolemia [RCV000972643]|not specified [RCV000174594] Chr2:43813316 [GRCh38]
Chr2:44040455 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) single nucleotide variant Sitosterolemia 1 [RCV001141536]|Sitosterolemia [RCV000624964]|not specified [RCV000174593] Chr2:43813208 [GRCh38]
Chr2:44040347 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p21(chr2:43762375-44960289)x3 copy number gain See cases [RCV000135631] Chr2:43762375..44960289 [GRCh38]
Chr2:43989514..45187428 [GRCh37]
Chr2:43843018..45040932 [NCBI36]
Chr2:2p21
pathogenic|uncertain significance
GRCh38/hg38 2p21(chr2:43676810-45016061)x3 copy number gain See cases [RCV000137089] Chr2:43676810..45016061 [GRCh38]
Chr2:43903949..45243200 [GRCh37]
Chr2:43757453..45096704 [NCBI36]
Chr2:2p21
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) single nucleotide variant not provided [RCV000178338] Chr2:43831839 [GRCh38]
Chr2:44058978 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) single nucleotide variant Sitosterolemia [RCV001510514]|not provided [RCV000884262]|not specified [RCV000180678] Chr2:43823953 [GRCh38]
Chr2:44051092 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg) single nucleotide variant Sitosterolemia 1 [RCV000262827] Chr2:43813222 [GRCh38]
Chr2:44040361 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) single nucleotide variant Sitosterolemia 1 [RCV001094625]|Sitosterolemia [RCV000264039] Chr2:43838653 [GRCh38]
Chr2:44065792 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) single nucleotide variant Sitosterolemia 1 [RCV000367922]|not provided [RCV000263615] Chr2:43814495 [GRCh38]
Chr2:44041634 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.978del (p.Glu326fs) deletion Sitosterolemia [RCV000208063] Chr2:43824359 [GRCh38]
Chr2:44051498 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022436.3(ABCG5):c.1068C>A (p.Phe356Leu) single nucleotide variant not provided [RCV000595850] Chr2:43824269 [GRCh38]
Chr2:44051408 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) single nucleotide variant Sitosterolemia 1 [RCV001094624]|Thrombocytopenia [RCV000852225]|not provided [RCV000384239] Chr2:43838600 [GRCh38]
Chr2:44065739 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter) single nucleotide variant Short-rib thoracic dysplasia 1 with or without polydactyly [RCV000754098]|Short-rib thoracic dysplasia 15 with polydactyly [RCV000239685] Chr2:43809711 [GRCh38]
Chr2:44036850 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) single nucleotide variant Sitosterolemia 1 [RCV001094755]|Sitosterolemia [RCV000275956] Chr2:43832068 [GRCh38]
Chr2:44059207 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) single nucleotide variant Sitosterolemia 1 [RCV000273431] Chr2:43819995 [GRCh38]
Chr2:44047134 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*416G>A single nucleotide variant Sitosterolemia 1 [RCV000396945] Chr2:43812700 [GRCh38]
Chr2:44039839 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) single nucleotide variant Sitosterolemia 1 [RCV000333591]|Sitosterolemia [RCV001497092] Chr2:43822849 [GRCh38]
Chr2:44049988 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.1873C>G (p.Leu625Val) single nucleotide variant Sitosterolemia 1 [RCV000353041] Chr2:43813199 [GRCh38]
Chr2:44040338 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) single nucleotide variant Sitosterolemia 1 [RCV000376487] Chr2:43824255 [GRCh38]
Chr2:44051394 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) single nucleotide variant Sitosterolemia 1 [RCV001094667]|Sitosterolemia [RCV000301047] Chr2:43825008 [GRCh38]
Chr2:44052147 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.39G>T (p.Met13Ile) single nucleotide variant Sitosterolemia 1 [RCV000377306] Chr2:43838641 [GRCh38]
Chr2:44065780 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*399C>T single nucleotide variant Sitosterolemia 1 [RCV000302415] Chr2:43812717 [GRCh38]
Chr2:44039856 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu) single nucleotide variant Sitosterolemia 1 [RCV000336129] Chr2:43824893 [GRCh38]
Chr2:44052032 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) single nucleotide variant Sitosterolemia 1 [RCV001094717]|Sitosterolemia [RCV000318037]|not specified [RCV000591475] Chr2:43813262 [GRCh38]
Chr2:44040401 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.775-10G>T single nucleotide variant Sitosterolemia 1 [RCV001094668]|Sitosterolemia [RCV000337396]|not provided [RCV001569904] Chr2:43825028 [GRCh38]
Chr2:44052167 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.*592G>A single nucleotide variant Sitosterolemia 1 [RCV000405062] Chr2:43812524 [GRCh38]
Chr2:44039663 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) single nucleotide variant Sitosterolemia 1 [RCV000290288]|Sitosterolemia [RCV001209660] Chr2:43824074 [GRCh38]
Chr2:44051213 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*380T>G single nucleotide variant Sitosterolemia 1 [RCV000361261] Chr2:43812736 [GRCh38]
Chr2:44039875 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) single nucleotide variant Sitosterolemia 1 [RCV000384440] Chr2:43824057 [GRCh38]
Chr2:44051196 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*522G>A single nucleotide variant Sitosterolemia 1 [RCV000291765] Chr2:43812594 [GRCh38]
Chr2:44039733 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) single nucleotide variant Sitosterolemia 1 [RCV000362294]|not provided [RCV000523427] Chr2:43837917 [GRCh38]
Chr2:44065056 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) single nucleotide variant Sitosterolemia 1 [RCV001094751]|Sitosterolemia [RCV000388056]|not provided [RCV000598247] Chr2:43822895 [GRCh38]
Chr2:44050034 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) single nucleotide variant Sitosterolemia 1 [RCV000325467] Chr2:43823979 [GRCh38]
Chr2:44051118 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*621C>T single nucleotide variant Sitosterolemia 1 [RCV000345312] Chr2:43812495 [GRCh38]
Chr2:44039634 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*511C>A single nucleotide variant Sitosterolemia 1 [RCV000346640] Chr2:43812605 [GRCh38]
Chr2:44039744 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*622C>T single nucleotide variant Sitosterolemia 1 [RCV000295200] Chr2:43812494 [GRCh38]
Chr2:44039633 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr) single nucleotide variant Sitosterolemia 1 [RCV000311727] Chr2:43828007 [GRCh38]
Chr2:44055146 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*285G>C single nucleotide variant Sitosterolemia 1 [RCV000298190]|not provided [RCV001556599] Chr2:43812831 [GRCh38]
Chr2:44039970 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) single nucleotide variant Sitosterolemia 1 [RCV000395583] Chr2:43824990 [GRCh38]
Chr2:44052129 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) single nucleotide variant not provided [RCV000303452] Chr2:43822802 [GRCh38]
Chr2:44049941 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) single nucleotide variant Sitosterolemia 1 [RCV001141660]|Sitosterolemia [RCV001086479]|not provided [RCV000766455]|not specified [RCV000376941] Chr2:43832056 [GRCh38]
Chr2:44059195 [GRCh37]
Chr2:2p21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.905-6dup duplication Sitosterolemia [RCV000285767]|not provided [RCV000899760] Chr2:43824434..43824435 [GRCh38]
Chr2:44051573..44051574 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) single nucleotide variant Sitosterolemia 1 [RCV001143371]|not provided [RCV000310689] Chr2:43819994 [GRCh38]
Chr2:44047133 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.28G>A (p.Gly10Arg) single nucleotide variant not provided [RCV000313279] Chr2:43838652 [GRCh38]
Chr2:44065791 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) single nucleotide variant Sitosterolemia 1 [RCV001139040]|not provided [RCV000383896] Chr2:43824989 [GRCh38]
Chr2:44052128 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) single nucleotide variant not provided [RCV000280097] Chr2:43831862 [GRCh38]
Chr2:44059001 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg) single nucleotide variant not provided [RCV000281113] Chr2:43838582 [GRCh38]
Chr2:44065721 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) single nucleotide variant Sitosterolemia [RCV001078882]|not provided [RCV000384289] Chr2:43824380 [GRCh38]
Chr2:44051519 [GRCh37]
Chr2:2p21
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) single nucleotide variant Sitosterolemia 1 [RCV001141657]|not provided [RCV000386077] Chr2:43828106 [GRCh38]
Chr2:44055245 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) single nucleotide variant not provided [RCV000350093] Chr2:43822814 [GRCh38]
Chr2:44049953 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val) single nucleotide variant not provided [RCV000350361] Chr2:43838637 [GRCh38]
Chr2:44065776 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.265+10G>A single nucleotide variant Sitosterolemia [RCV001424239]|not provided [RCV000285579] Chr2:43837824 [GRCh38]
Chr2:44064963 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) single nucleotide variant not provided [RCV000355005] Chr2:43824959 [GRCh38]
Chr2:44052098 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) single nucleotide variant Sitosterolemia 1 [RCV001141655]|Sitosterolemia [RCV000986627]|not provided [RCV000658134]|not specified [RCV000286622] Chr2:43828024 [GRCh38]
Chr2:44055163 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.696C>T (p.Val232=) single nucleotide variant Sitosterolemia 1 [RCV001139041]|Sitosterolemia [RCV000972441]|not specified [RCV000286899] Chr2:43826460 [GRCh38]
Chr2:44053599 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) single nucleotide variant Sitosterolemia [RCV000892629]|not specified [RCV000393828] Chr2:43838630 [GRCh38]
Chr2:44065769 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys) single nucleotide variant not provided [RCV000261065] Chr2:43823917 [GRCh38]
Chr2:44051056 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.501+11dup duplication not provided [RCV001557582]|not specified [RCV000597783] Chr2:43831752..43831753 [GRCh38]
Chr2:44058891..44058892 [GRCh37]
Chr2:2p21
benign|likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) single nucleotide variant not provided [RCV000596053] Chr2:43819943 [GRCh38]
Chr2:44047082 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.266G>C (p.Gly89Ala) single nucleotide variant Sitosterolemia 1 [RCV000307666] Chr2:43832083 [GRCh38]
Chr2:44059222 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.570G>A (p.Leu190=) single nucleotide variant Sitosterolemia 1 [RCV000371072] Chr2:43828047 [GRCh38]
Chr2:44055186 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-118A>C single nucleotide variant Sitosterolemia 1 [RCV001094673]|Sitosterolemia [RCV000274880]|not provided [RCV001551421] Chr2:43838797 [GRCh38]
Chr2:44065936 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.1155A>G (p.Ala385=) single nucleotide variant Sitosterolemia 1 [RCV000340544] Chr2:43824082 [GRCh38]
Chr2:44051221 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) single nucleotide variant Sitosterolemia 1 [RCV001094756]|Sitosterolemia [RCV000272378]|not specified [RCV000365368] Chr2:43837951 [GRCh38]
Chr2:44065090 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.715G>A (p.Ala239Thr) single nucleotide variant Sitosterolemia 1 [RCV000395592] Chr2:43826441 [GRCh38]
Chr2:44053580 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*357dup duplication Sitosterolemia [RCV000396950] Chr2:43812758..43812759 [GRCh38]
Chr2:44039897..44039898 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1108G>A (p.Val370Ile) single nucleotide variant not provided [RCV000596353] Chr2:43824229 [GRCh38]
Chr2:44051368 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.365G>A (p.Arg122Gln) single nucleotide variant not provided [RCV000591667] Chr2:43831984 [GRCh38]
Chr2:44059123 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1347C>T (p.Ser449=) single nucleotide variant not specified [RCV000593902] Chr2:43822913 [GRCh38]
Chr2:44050052 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.751C>G (p.Gln251Glu) single nucleotide variant not provided [RCV000730071] Chr2:43826405 [GRCh38]
Chr2:44053544 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.598C>G (p.Arg200Gly) single nucleotide variant not provided [RCV000591789] Chr2:43828019 [GRCh38]
Chr2:44055158 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) single nucleotide variant Sitosterolemia 1 [RCV001136801]|Sitosterolemia [RCV000907220]|not provided [RCV001551376]|not specified [RCV000591881] Chr2:43823986 [GRCh38]
Chr2:44051125 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) single nucleotide variant not provided [RCV000592725] Chr2:43828018 [GRCh38]
Chr2:44055157 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys) single nucleotide variant not provided [RCV000597615] Chr2:43828022 [GRCh38]
Chr2:44055161 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) single nucleotide variant not provided [RCV000592979] Chr2:43826398 [GRCh38]
Chr2:44053537 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) single nucleotide variant not provided [RCV000593479] Chr2:43838568 [GRCh38]
Chr2:44065707 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1602G>C (p.Val534=) single nucleotide variant not provided [RCV000591280] Chr2:43819962 [GRCh38]
Chr2:44047101 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1904T>C (p.Val635Ala) single nucleotide variant Sitosterolemia 1 [RCV001138937] Chr2:43813168 [GRCh38]
Chr2:44040307 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) single nucleotide variant Sitosterolemia [RCV000969158]|not specified [RCV000591479] Chr2:43824896 [GRCh38]
Chr2:44052035 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) single nucleotide variant Sitosterolemia [RCV000764409]|not provided [RCV000591537] Chr2:43814506 [GRCh38]
Chr2:44041645 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) single nucleotide variant Sitosterolemia [RCV001360094]|not provided [RCV000731012] Chr2:43820036 [GRCh38]
Chr2:44047175 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) single nucleotide variant not provided [RCV000731084] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) single nucleotide variant not provided [RCV000733037] Chr2:43824066 [GRCh38]
Chr2:44051205 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.634+3A>G single nucleotide variant Sitosterolemia [RCV001364909]|not provided [RCV000734338] Chr2:43827980 [GRCh38]
Chr2:44055119 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) single nucleotide variant not provided [RCV000735033] Chr2:43820064 [GRCh38]
Chr2:44047203 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1682TCA[3] (p.Ile562dup) microsatellite not provided [RCV000735075] Chr2:43814551..43814552 [GRCh38]
Chr2:44041690..44041691 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.86C>T (p.Pro29Leu) single nucleotide variant not provided [RCV000731163] Chr2:43838594 [GRCh38]
Chr2:44065733 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1059G>A (p.Met353Ile) single nucleotide variant not provided [RCV000735180] Chr2:43824278 [GRCh38]
Chr2:44051417 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.403-5T>G single nucleotide variant not provided [RCV000730096] Chr2:43831872 [GRCh38]
Chr2:44059011 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.220T>G (p.Leu74Val) single nucleotide variant not provided [RCV000733169] Chr2:43837879 [GRCh38]
Chr2:44065018 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) single nucleotide variant not provided [RCV000733189] Chr2:43838581 [GRCh38]
Chr2:44065720 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg) single nucleotide variant not provided [RCV000731406] Chr2:43814528 [GRCh38]
Chr2:44041667 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) single nucleotide variant Sitosterolemia 1 [RCV001141537]|Sitosterolemia [RCV000958290]|not specified [RCV000728857] Chr2:43813266 [GRCh38]
Chr2:44040405 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022436.3(ABCG5):c.411C>T (p.Thr137=) single nucleotide variant not provided [RCV000734595] Chr2:43831859 [GRCh38]
Chr2:44058998 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) single nucleotide variant Sitosterolemia 1 [RCV001141659]|Sitosterolemia [RCV001523024]|not provided [RCV000734052] Chr2:43831828 [GRCh38]
Chr2:44058967 [GRCh37]
Chr2:2p21
benign|uncertain significance
NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln) single nucleotide variant not provided [RCV000733462] Chr2:43822906 [GRCh38]
Chr2:44050045 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1950C>T (p.Ser650=) single nucleotide variant not provided [RCV000733516] Chr2:43813122 [GRCh38]
Chr2:44040261 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr) single nucleotide variant not provided [RCV000734188] Chr2:43822902 [GRCh38]
Chr2:44050041 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn) single nucleotide variant not provided [RCV000734771] Chr2:43814532 [GRCh38]
Chr2:44041671 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) single nucleotide variant Sitosterolemia [RCV001401108]|not provided [RCV000732701] Chr2:43824422 [GRCh38]
Chr2:44051561 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) single nucleotide variant not provided [RCV000733583] Chr2:43828067 [GRCh38]
Chr2:44055206 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) single nucleotide variant not provided [RCV000730751] Chr2:43832067 [GRCh38]
Chr2:44059206 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) single nucleotide variant not provided [RCV000731824] Chr2:43826498 [GRCh38]
Chr2:44053637 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp) single nucleotide variant Sitosterolemia [RCV001343394]|not provided [RCV000734914] Chr2:43837918 [GRCh38]
Chr2:44065057 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) single nucleotide variant not provided [RCV000729310] Chr2:43824965 [GRCh38]
Chr2:44052104 [GRCh37]
Chr2:2p21
conflicting interpretations of pathogenicity|uncertain significance
NM_022436.3(ABCG5):c.502-11_502-10del microsatellite not provided [RCV000731929] Chr2:43828125..43828126 [GRCh38]
Chr2:44055264..44055265 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.249C>T (p.Cys83=) single nucleotide variant not provided [RCV000729378] Chr2:43837850 [GRCh38]
Chr2:44064989 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1770A>C (p.Ser590=) single nucleotide variant not provided [RCV000734256] Chr2:43813302 [GRCh38]
Chr2:44040441 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) single nucleotide variant Sitosterolemia 1 [RCV001143473]|Sitosterolemia [RCV001319981]|not provided [RCV000734930] Chr2:43837864 [GRCh38]
Chr2:44065003 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.850T>C (p.Phe284Leu) single nucleotide variant not provided [RCV000728101] Chr2:43824943 [GRCh38]
Chr2:44052082 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) single nucleotide variant not provided [RCV000729467] Chr2:43823926 [GRCh38]
Chr2:44051065 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44065338-44079721)x3 copy number gain See cases [RCV000449177] Chr2:44065338..44079721 [GRCh37]
Chr2:2p21
benign
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022436.3(ABCG5):c.94G>A (p.Ala32Thr) single nucleotide variant not specified [RCV000503124] Chr2:43838586 [GRCh38]
Chr2:44065725 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.11:g.38121110_47669522inv inversion Lynch syndrome [RCV000494356] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p21(chr2:43386188-45013725)x3 copy number gain See cases [RCV000511805] Chr2:43386188..45013725 [GRCh37]
Chr2:2p21
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=) single nucleotide variant not provided [RCV000595762] Chr2:43822862 [GRCh38]
Chr2:44050001 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) single nucleotide variant Sitosterolemia [RCV001455111]|not provided [RCV000594544] Chr2:43828107 [GRCh38]
Chr2:44055246 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.403-1G>A single nucleotide variant not provided [RCV000594338] Chr2:43831868 [GRCh38]
Chr2:44059007 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) single nucleotide variant Sitosterolemia [RCV001462661]|not provided [RCV000595218] Chr2:43825013 [GRCh38]
Chr2:44052152 [GRCh37]
Chr2:2p21
likely benign|uncertain significance
NM_022436.3(ABCG5):c.403-2A>G single nucleotide variant not provided [RCV000595343] Chr2:43831869 [GRCh38]
Chr2:44059008 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1410C>T (p.His470=) single nucleotide variant Sitosterolemia [RCV001471046]|not provided [RCV000635391] Chr2:43822850 [GRCh38]
Chr2:44049989 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys) single nucleotide variant not provided [RCV000596623] Chr2:43823982 [GRCh38]
Chr2:44051121 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1492C>T (p.Arg498Ter) single nucleotide variant not provided [RCV000597042] Chr2:43820072 [GRCh38]
Chr2:44047211 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) single nucleotide variant Sitosterolemia 1 [RCV001143372]|Sitosterolemia [RCV001521409]|not specified [RCV000595235] Chr2:43819997 [GRCh38]
Chr2:44047136 [GRCh37]
Chr2:2p21
benign|likely benign|uncertain significance
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) single nucleotide variant not provided [RCV000595595] Chr2:43820036 [GRCh38]
Chr2:44047175 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_022436.3(ABCG5):c.265+189C>T single nucleotide variant not provided [RCV001534204] Chr2:43837645 [GRCh38]
Chr2:44064784 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.*72G>A single nucleotide variant not provided [RCV001547473] Chr2:43813044 [GRCh38]
Chr2:44040183 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+202dup duplication not provided [RCV001547271] Chr2:43826166..43826167 [GRCh38]
Chr2:44053305..44053306 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) single nucleotide variant Sitosterolemia 1 [RCV001136802]|Sitosterolemia [RCV000967650]|not provided [RCV001551444] Chr2:43824009 [GRCh38]
Chr2:44051148 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) single nucleotide variant Sitosterolemia [RCV000901064] Chr2:43822894 [GRCh38]
Chr2:44050033 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1128A>G (p.Thr376=) single nucleotide variant Sitosterolemia [RCV001497202]|not provided [RCV000982955] Chr2:43824109 [GRCh38]
Chr2:44051248 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1197C>T (p.Phe399=) single nucleotide variant Sitosterolemia [RCV000983568] Chr2:43824040 [GRCh38]
Chr2:44051179 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) single nucleotide variant Sitosterolemia 1 [RCV001143373]|Sitosterolemia [RCV000960558]|not provided [RCV001574207] Chr2:43820014 [GRCh38]
Chr2:44047153 [GRCh37]
Chr2:2p21
benign|likely benign
NM_022436.3(ABCG5):c.775-7T>A single nucleotide variant Sitosterolemia [RCV001405140]|not provided [RCV000944421] Chr2:43825025 [GRCh38]
Chr2:44052164 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) single nucleotide variant Sitosterolemia [RCV001053780] Chr2:43824021 [GRCh38]
Chr2:44051160 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) single nucleotide variant Sitosterolemia [RCV001059769] Chr2:43813216 [GRCh38]
Chr2:44040355 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1325-2A>G single nucleotide variant Sitosterolemia [RCV000778618] Chr2:43822937 [GRCh38]
Chr2:44050076 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.775-3C>G single nucleotide variant Thrombocytopenia [RCV000852214] Chr2:43825021 [GRCh38]
Chr2:44052160 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr) single nucleotide variant Sitosterolemia [RCV000796214] Chr2:43813234 [GRCh38]
Chr2:44040373 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44024281-44136423)x1 copy number loss not provided [RCV000847791] Chr2:44024281..44136423 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) single nucleotide variant Sitosterolemia 1 [RCV001136896]|Sitosterolemia [RCV001512079] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys) single nucleotide variant Sitosterolemia 1 [RCV001136803] Chr2:43824041 [GRCh38]
Chr2:44051180 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1118+13C>G single nucleotide variant Sitosterolemia 1 [RCV001136804] Chr2:43824206 [GRCh38]
Chr2:44051345 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.23C>A (p.Thr8Asn) single nucleotide variant Sitosterolemia 1 [RCV001136900] Chr2:43838657 [GRCh38]
Chr2:44065796 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-41C>T single nucleotide variant Sitosterolemia 1 [RCV001139136] Chr2:43838720 [GRCh38]
Chr2:44065859 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-85A>C single nucleotide variant Sitosterolemia 1 [RCV001139137] Chr2:43838764 [GRCh38]
Chr2:44065903 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.139G>C (p.Val47Leu) single nucleotide variant Sitosterolemia 1 [RCV001136897] Chr2:43838541 [GRCh38]
Chr2:44065680 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*225G>T single nucleotide variant Sitosterolemia 1 [RCV001138935] Chr2:43812891 [GRCh38]
Chr2:44040030 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*153C>A single nucleotide variant Sitosterolemia 1 [RCV001138936] Chr2:43812963 [GRCh38]
Chr2:44040102 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-33A>C single nucleotide variant Sitosterolemia 1 [RCV001139135] Chr2:43838712 [GRCh38]
Chr2:44065851 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) single nucleotide variant Sitosterolemia [RCV001047225] Chr2:43820027 [GRCh38]
Chr2:44047166 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:43995167-44385714)x3 copy number gain not provided [RCV001005254] Chr2:43995167..44385714 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.403-8T>C single nucleotide variant Sitosterolemia [RCV001067183] Chr2:43831875 [GRCh38]
Chr2:44059014 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1620G>A (p.Ala540=) single nucleotide variant Sitosterolemia [RCV001222337] Chr2:43819944 [GRCh38]
Chr2:44047083 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) single nucleotide variant Sitosterolemia 2 [RCV001534613]|not provided [RCV000997120] Chr2:43822886 [GRCh38]
Chr2:44050025 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_022436.3(ABCG5):c.692T>C (p.Ile231Thr) single nucleotide variant Abnormal bleeding [RCV001270500]|not provided [RCV000997121] Chr2:43826464 [GRCh38]
Chr2:44053603 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1631T>A (p.Val544Asp) single nucleotide variant not provided [RCV001092626] Chr2:43819933 [GRCh38]
Chr2:44047072 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.69C>T (p.Ser23=) single nucleotide variant Sitosterolemia 1 [RCV001136899] Chr2:43838611 [GRCh38]
Chr2:44065750 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.575del (p.Gly192fs) deletion not provided [RCV001008401] Chr2:43828042 [GRCh38]
Chr2:44055181 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.1768T>C (p.Ser590Pro) single nucleotide variant Sitosterolemia 1 [RCV001141538] Chr2:43813304 [GRCh38]
Chr2:44040443 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.774+198C>A single nucleotide variant not provided [RCV001546640] Chr2:43826184 [GRCh38]
Chr2:44053323 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+73T>A single nucleotide variant not provided [RCV001550290] Chr2:43826309 [GRCh38]
Chr2:44053448 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+215del deletion not provided [RCV001550695] Chr2:43826167 [GRCh38]
Chr2:44053306 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+276C>G single nucleotide variant not provided [RCV001561772] Chr2:43826106 [GRCh38]
Chr2:44053245 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1119-30A>G single nucleotide variant not provided [RCV001545806] Chr2:43824148 [GRCh38]
Chr2:44051287 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1464-219G>A single nucleotide variant not provided [RCV001547576] Chr2:43820319 [GRCh38]
Chr2:44047458 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.33G>T (p.Gly11=) single nucleotide variant not provided [RCV000921471] Chr2:43838647 [GRCh38]
Chr2:44065786 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln) single nucleotide variant Sitosterolemia [RCV001046676] Chr2:43822923 [GRCh38]
Chr2:44050062 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg) single nucleotide variant Sitosterolemia 1 [RCV001143374] Chr2:43822884 [GRCh38]
Chr2:44050023 [GRCh37]
Chr2:2p21
uncertain significance
NM_016008.4(DYNC2LI1):c.1042G>C (p.Glu348Gln) single nucleotide variant not provided [RCV000958289] Chr2:43809753 [GRCh38]
Chr2:44036892 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.1324+73A>T single nucleotide variant not provided [RCV001551257] Chr2:43823840 [GRCh38]
Chr2:44050979 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.774+166T>C single nucleotide variant not provided [RCV001558513] Chr2:43826216 [GRCh38]
Chr2:44053355 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1463+321T>G single nucleotide variant not provided [RCV001559484] Chr2:43822476 [GRCh38]
Chr2:44049615 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.144-45C>A single nucleotide variant not provided [RCV001555972] Chr2:43838000 [GRCh38]
Chr2:44065139 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.207C>G (p.Leu69=) single nucleotide variant Sitosterolemia 1 [RCV001143474] Chr2:43837892 [GRCh38]
Chr2:44065031 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.*535C>T single nucleotide variant Sitosterolemia 1 [RCV001136699] Chr2:43812581 [GRCh38]
Chr2:44039720 [GRCh37]
Chr2:2p21
benign
NM_022436.3(ABCG5):c.*352T>C single nucleotide variant Sitosterolemia 1 [RCV001138934] Chr2:43812764 [GRCh38]
Chr2:44039903 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.-24G>C single nucleotide variant Sitosterolemia 1 [RCV001139134] Chr2:43838703 [GRCh38]
Chr2:44065842 [GRCh37]
Chr2:2p21
uncertain significance
Single allele deletion Gingival bleeding [RCV001003841] Chr2:44041487..44060795 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) single nucleotide variant Sitosterolemia 1 [RCV001139039] Chr2:43824966 [GRCh38]
Chr2:44052105 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) single nucleotide variant Sitosterolemia 1 [RCV001136898] Chr2:43838602 [GRCh38]
Chr2:44065741 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.538G>A (p.Val180Met) single nucleotide variant Sitosterolemia 1 [RCV001141656] Chr2:43828079 [GRCh38]
Chr2:44055218 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.281C>T (p.Thr94Met) single nucleotide variant Sitosterolemia 1 [RCV001143472] Chr2:43832068 [GRCh38]
Chr2:44059207 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) single nucleotide variant Sitosterolemia [RCV001236399] Chr2:43823952 [GRCh38]
Chr2:44051091 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.635-153_1588del deletion Sitosterolemia [RCV001214157] Chr2:43819976..43826674 [GRCh38]
Chr2:44047115..44053813 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.509C>T (p.Ala170Val) single nucleotide variant Sitosterolemia 1 [RCV001141658] Chr2:43828108 [GRCh38]
Chr2:44055247 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) single nucleotide variant Sitosterolemia [RCV001214634] Chr2:43824116 [GRCh38]
Chr2:44051255 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) single nucleotide variant Sitosterolemia [RCV001062708] Chr2:43837873 [GRCh38]
Chr2:44065012 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.151G>A (p.Val51Met) single nucleotide variant Sitosterolemia 1 [RCV001143475] Chr2:43837948 [GRCh38]
Chr2:44065087 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p21(chr2:44058332-44323064)x3 copy number gain not provided [RCV001258529] Chr2:44058332..44323064 [GRCh37]
Chr2:2p21
likely benign
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) single nucleotide variant Gallbladder disease 4 [RCV000005263]|Sitosterolemia 1 [RCV001094725]|Sitosterolemia [RCV000269126]|not specified [RCV000266053] Chr2:43839108 [GRCh38]
Chr2:44066247 [GRCh37]
Chr2:2p21
pathogenic|risk factor|benign|likely benign
NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys) single nucleotide variant Sitosterolemia [RCV001301630] Chr2:43824931 [GRCh38]
Chr2:44052070 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys) indel Sitosterolemia 1 [RCV001329275] Chr2:43832056..43832057 [GRCh38]
Chr2:44059195..44059196 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.451A>C (p.Thr151Pro) single nucleotide variant Sitosterolemia [RCV001316530] Chr2:43831819 [GRCh38]
Chr2:44058958 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1218G>A (p.Arg406=) single nucleotide variant Sitosterolemia [RCV001413675] Chr2:43824019 [GRCh38]
Chr2:44051158 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser) single nucleotide variant Sitosterolemia [RCV001341916] Chr2:43824374 [GRCh38]
Chr2:44051513 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) single nucleotide variant Sitosterolemia [RCV001350898] Chr2:43824423 [GRCh38]
Chr2:44051562 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) single nucleotide variant Sitosterolemia [RCV001301490] Chr2:43822912 [GRCh38]
Chr2:44050051 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr) single nucleotide variant Sitosterolemia [RCV001346003] Chr2:43838678 [GRCh38]
Chr2:44065817 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.832G>A (p.Ala278Thr) single nucleotide variant Sitosterolemia [RCV001361109] Chr2:43824961 [GRCh38]
Chr2:44052100 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) single nucleotide variant Sitosterolemia [RCV001307964] Chr2:43838564 [GRCh38]
Chr2:44065703 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His) single nucleotide variant Sitosterolemia [RCV001347684] Chr2:43822912 [GRCh38]
Chr2:44050051 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.634+1G>C single nucleotide variant Sitosterolemia 1 [RCV001336052] Chr2:43827982 [GRCh38]
Chr2:44055121 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.933C>T (p.Ser311=) single nucleotide variant Sitosterolemia [RCV001297141] Chr2:43824404 [GRCh38]
Chr2:44051543 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) single nucleotide variant Sitosterolemia [RCV001449803] Chr2:43826405 [GRCh38]
Chr2:44053544 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) single nucleotide variant Sitosterolemia 1 [RCV001294126] Chr2:43813186 [GRCh38]
Chr2:44040325 [GRCh37]
Chr2:2p21
pathogenic
NM_022436.3(ABCG5):c.1878T>C (p.Ile626=) single nucleotide variant Sitosterolemia [RCV001484763] Chr2:43813194 [GRCh38]
Chr2:44040333 [GRCh37]
Chr2:2p21
likely benign
NC_000002.11:g.(?_44047116_44053814del deletion Sitosterolemia [RCV001379258]   likely pathogenic
NM_022436.3(ABCG5):c.342T>C (p.Tyr114=) single nucleotide variant Sitosterolemia [RCV001436496] Chr2:43832007 [GRCh38]
Chr2:44059146 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.177T>C (p.Ser59=) single nucleotide variant Sitosterolemia [RCV001449442] Chr2:43837922 [GRCh38]
Chr2:44065061 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.634+1G>A single nucleotide variant Sitosterolemia [RCV001379567] Chr2:43827982 [GRCh38]
Chr2:44055121 [GRCh37]
Chr2:2p21
likely pathogenic
NM_022436.3(ABCG5):c.143+9G>C single nucleotide variant Sitosterolemia [RCV001435005] Chr2:43838528 [GRCh38]
Chr2:44065667 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.1324+45C>T single nucleotide variant not provided [RCV001535140] Chr2:43823868 [GRCh38]
Chr2:44051007 [GRCh37]
Chr2:2p21
likely benign
NM_022436.3(ABCG5):c.634A>G (p.Lys212Glu) single nucleotide variant not provided [RCV001508989] Chr2:43827983 [GRCh38]
Chr2:44055122 [GRCh37]
Chr2:2p21
uncertain significance
NM_022436.3(ABCG5):c.1516C>T (p.Leu506Phe) single nucleotide variant not provided [RCV001508987] Chr2:43820048 [GRCh38]
Chr2:44047187 [GRCh37]
Chr2:2p21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13886 AgrOrtholog
COSMIC ABCG5 COSMIC
Ensembl Genes ENSG00000138075 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000384513 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000405322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644754 ENTREZGENE
GTEx ENSG00000138075 GTEx
HGNC ID HGNC:13886 ENTREZGENE
Human Proteome Map ABCG5 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_2_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64240 UniProtKB/Swiss-Prot
NCBI Gene 64240 ENTREZGENE
OMIM 605459 OMIM
  618666 OMIM
Pfam ABC2_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC2_membrane_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24411 PharmGKB
PROSITE ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ABCG5_HUMAN UniProtKB/Swiss-Prot
  Q53QN9_HUMAN UniProtKB/TrEMBL
  Q53T83_HUMAN UniProtKB/TrEMBL
  Q9H222 ENTREZGENE
UniProt Secondary Q2T9G2 UniProtKB/Swiss-Prot
  Q96QZ2 UniProtKB/Swiss-Prot
  Q96QZ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCG5  ATP binding cassette subfamily G member 5    ATP-binding cassette, sub-family G (WHITE), member 5  Symbol and/or name change 5135510 APPROVED
2011-08-16 ABCG5  ATP-binding cassette, sub-family G (WHITE), member 5  ABCG5  ATP-binding cassette, sub-family G (WHITE), member 5  Symbol and/or name change 5135510 APPROVED