ABCB4 (ATP binding cassette subfamily B member 4) - Rat Genome Database

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Gene: ABCB4 (ATP binding cassette subfamily B member 4) Homo sapiens
Analyze
Symbol: ABCB4
Name: ATP binding cassette subfamily B member 4
RGD ID: 736946
HGNC Page HGNC:45
Description: Enables ATPase-coupled transmembrane transporter activity and phosphatidylcholine floppase activity. Involved in several processes, including cellular response to bile acid; positive regulation of cholesterol transport; and regulation of membrane lipid distribution. Located in several cellular components, including apical plasma membrane; focal adhesion; and nucleoplasm. Implicated in cholestasis (multiple); gallbladder disease; and liver cirrhosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC21; ATP-binding cassette sub-family B member 4; ATP-binding cassette, sub-family B (MDR/TAP), member 4; GBD1; ICP3; MDR2; MDR2/3; MDR3; multidrug resistance protein 3; multiple drug resistance 3; P glycoprotein 3/multiple drug resistance 3; P-glycoprotein 3; P-glycoprotein-3/multiple drug resistance-3; PFIC-3; PGY3; phosphatidylcholine translocator ABCB4
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh38787,365,896 - 87,476,027 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl787,401,696 - 87,480,435 (-)EnsemblGRCh38hg38GRCh38
GRCh37787,031,012 - 87,104,996 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36786,869,297 - 86,942,955 (-)NCBINCBI36Build 36hg18NCBI36
Build 34786,676,016 - 86,754,402NCBI
Celera781,736,239 - 81,809,903 (-)NCBICelera
Cytogenetic Map7q21.12NCBI
HuRef781,642,357 - 81,716,022 (-)NCBIHuRef
CHM1_1786,961,467 - 87,035,121 (-)NCBICHM1_1
T2T-CHM13v2.0788,651,457 - 88,725,450 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(6aR,9R)-N-[(2S)-1-hydroxybutan-2-yl]-4,7-dimethyl-6,6a,8,9-tetrahydroindolo[4,3-fg]quinoline-9-carboxamide  (EXP)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,9-dideoxyforskolin  (ISO)
1-[4-(1,3-benzodioxol-5-ylmethyl)-1-piperazinyl]-2-(4-chlorophenoxy)ethanone  (EXP)
1-naphthyl isothiocyanate  (EXP,ISO)
1-phenyl-1-cyclopentanecarboxylic acid 2-[2-(diethylamino)ethoxy]ethyl ester  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-estradiol 17-glucosiduronic acid  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
adefovir  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
atazanavir sulfate  (EXP)
atorvastatin calcium  (ISO)
azathioprine  (ISO)
beclomethasone  (EXP)
benzarone  (EXP)
benzatropine  (EXP)
benzbromarone  (EXP)
benziodarone  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bezafibrate  (EXP,ISO)
bicalutamide  (EXP)
biperiden  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
bosentan  (EXP)
bromosulfophthalein  (ISO)
brompheniramine  (EXP)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
carboplatin  (ISO)
chenodeoxycholic acid  (EXP,ISO)
chlorphenamine  (EXP)
chlorpromazine  (EXP)
cholesterol  (ISO)
cholic acid  (ISO)
chromium(6+)  (ISO)
ciprofibrate  (ISO)
clavulanic acid  (EXP)
clemastine  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
colforsin daropate hydrochloride  (EXP)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
deoxycholic acid  (EXP,ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
dihydroergotamine  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
doxycycline  (ISO)
doxylamine  (EXP)
ebrotidine  (EXP)
emodin  (ISO)
entinostat  (EXP)
esmolol  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
fenthion  (ISO)
flutamide  (EXP,ISO)
fluvoxamine  (EXP)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glutathione  (ISO)
glyburide  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
griseofulvin  (ISO)
guanethidine  (EXP)
guggulsterone  (ISO)
GW 4064  (EXP,ISO)
herbicide  (ISO)
hydroxyzine  (EXP)
indocyanine green  (ISO)
isoprenaline  (EXP,ISO)
ketoconazole  (EXP,ISO)
labetalol  (EXP)
lapatinib  (EXP)
leflunomide  (EXP,ISO)
Licochalcone B  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
loratadine  (EXP)
LY-2157299  (ISO)
metformin  (ISO)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methotrexate  (EXP)
methoxsalen  (EXP,ISO)
methyltestosterone  (EXP)
methysergide  (EXP)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (EXP,ISO)
nitrofurantoin  (EXP)
nomifensine  (EXP)
nortriptyline  (EXP)
O-methyleugenol  (EXP)
obeticholic acid  (EXP,ISO)
omeprazole  (EXP)
oxaliplatin  (ISO)
oxybutynin  (EXP)
oxycodone  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
paliperidone palmitate  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pazopanib  (EXP)
penbutolol  (EXP)
perfluorobutyric acid  (ISO)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
perhexiline  (EXP,ISO)
permethrin  (ISO)
phenazopyridine  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
Phenoxybenzamine  (EXP)
phentolamine  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidylcholine  (EXP,ISO)
physcion  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
primaquine  (EXP)
procyclidine  (EXP)
procymidone  (ISO)
propiconazole  (ISO)
protriptyline  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
ritonavir  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
soybean oil  (ISO)
streptozocin  (ISO)
tacrine  (EXP)
tamoxifen  (EXP,ISO)
tamsulosin  (EXP)
tartrazine  (EXP)
tasosartan  (EXP)
taurocholic acid  (ISO)
Technetium tc 99m sestamibi  (ISO)
tenofovir disoproxil fumarate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
tipranavir  (EXP)
titanium dioxide  (ISO)
tolterodine tartrate  (EXP)
topotecan  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (EXP,ISO)
tungsten  (ISO)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
Y-27632  (EXP)
yohimbine  (ISO)
zafirlukast  (EXP)
zimeldine  (EXP)

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
Abdominal colic  (IAGP)
Abdominal pain  (IAGP)
Abnormal circulating interleukin concentration  (IAGP)
Abnormal liver function tests during pregnancy  (IAGP)
Abnormal pineal melatonin secretion  (IAGP)
Abnormality of the pancreas  (IAGP)
Adult onset  (IAGP)
Ascites  (IAGP)
Asterixis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bile duct proliferation  (IAGP)
Biliary cirrhosis  (IAGP)
Biliary tract obstruction  (IAGP)
Cholangitis  (IAGP)
Cholecystitis  (IAGP)
Cholelithiasis  (IAGP)
Cholestasis  (IAGP)
Cholesterol gallstones  (IAGP)
Cirrhosis  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Elevated hepatic transaminase  (IAGP)
Fetal distress  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypercholesterolemia  (IAGP)
Hypertension  (IAGP)
Hypothyroidism  (IAGP)
Increased serum bile acid concentration  (IAGP)
Increased serum bile acid concentration during pregnancy  (IAGP)
Infantile onset  (IAGP)
Insomnia  (IAGP)
Intrahepatic cholestasis  (IAGP)
Jaundice  (IAGP)
Liver abscess  (IAGP)
Malabsorption  (IAGP)
Meconium stained amniotic fluid  (IAGP)
Neonatal respiratory distress  (IAGP)
Obesity  (IAGP)
Overweight  (IAGP)
Palmar pruritus  (IAGP)
Pancreatitis  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Portal fibrosis  (IAGP)
Portal inflammation  (IAGP)
Preeclampsia  (IAGP)
Premature birth  (IAGP)
Pruritus  (IAGP)
Pruritus on foot  (IAGP)
Sclerosing cholangitis  (IAGP)
Small for gestational age  (IAGP)
Splenomegaly  (IAGP)
Tremor  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. Aronson SJ, etal., J Hepatol. 2019 Jul;71(1):153-162. doi: 10.1016/j.jhep.2019.03.021. Epub 2019 Mar 29.
2. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. de Vree JM, etal., Proc Natl Acad Sci U S A 1998 Jan 6;95(1):282-7.
3. ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. Degiorgio D, etal., J Gastroenterol. 2016 Mar;51(3):271-80. doi: 10.1007/s00535-015-1110-z. Epub 2015 Sep 1.
4. Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations. Fang LJ, etal., J Pediatr Gastroenterol Nutr. 2012 Aug;55(2):150-6. doi: 10.1097/MPG.0b013e31824ef36f.
5. Regurgitation of bile acids from leaky bile ducts causes sclerosing cholangitis in Mdr2 (Abcb4) knockout mice. Fickert P, etal., Gastroenterology. 2004 Jul;127(1):261-74.
6. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Gotthardt D, etal., Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485.
7. Transport of xenobiotics across the blood-brain barrier. Hagenbuch B, etal., News Physiol Sci 2002 Dec;17:231-4.
8. Phospholipid alterations in hepatocyte membranes and transporter protein changes in cholestatic rat model. Hyogo H, etal., Dig Dis Sci. 2001 Oct;46(10):2089-97.
9. ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones. Jirsa M, etal., World J Gastroenterol. 2014 May 21;20(19):5867-74. doi: 10.3748/wjg.v20.i19.5867.
10. Oral methylthioadenosine administration attenuates fibrosis and chronic liver disease progression in Mdr2-/- mice. Latasa MU, etal., PLoS One. 2010 Dec 29;5(12):e15690. doi: 10.1371/journal.pone.0015690.
11. Multiple inflammatory-, tissue remodelling- and fibrosis genes are differentially transcribed in the livers of Abcb4 (-/ - ) mice harbouring chronic cholangitis. Nakken KE, etal., Scand J Gastroenterol. 2007 Oct;42(10):1245-55. doi: 10.1080/00365520701320521.
12. Single-nucleotide polymorphism analysis of the multidrug resistance protein 3 gene for the detection of clinical progression in Japanese patients with primary biliary cirrhosis. Ohishi Y, etal., Hepatology. 2008 Sep;48(3):853-62. doi: 10.1002/hep.22382.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Smit JJ, etal., Cell 1993 Nov 5;75(3):451-62.
19. An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. Tomaiuolo R, etal., Dig Liver Dis. 2009 Nov;41(11):817-22. Epub 2009 May 20.
20. Differential effects of streptozotocin-induced diabetes on expression of hepatic ABC-transporters in rats. van Waarde WM, etal., Gastroenterology. 2002 Jun;122(7):1842-52.
21. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Ziol M, etal., Gastroenterology. 2008 Jul;135(1):131-41. doi: 10.1053/j.gastro.2008.03.044. Epub 2008 Mar 26.
Additional References at PubMed
PMID:2002063   PMID:2892668   PMID:2906314   PMID:3477522   PMID:7734012   PMID:7893760   PMID:7912266   PMID:7912658   PMID:8898203   PMID:9542318   PMID:9923886   PMID:10767346  
PMID:11313316   PMID:11745043   PMID:12206920   PMID:12381474   PMID:12388190   PMID:12477932   PMID:12690205   PMID:12746424   PMID:12853948   PMID:12891548   PMID:14527955   PMID:14999697  
PMID:15077010   PMID:15159385   PMID:15258199   PMID:16696816   PMID:16763017   PMID:16854530   PMID:16857572   PMID:16890614   PMID:16891356   PMID:17187437   PMID:17264802   PMID:17523162  
PMID:17562004   PMID:17726488   PMID:17786139   PMID:18083082   PMID:18231753   PMID:18660489   PMID:19018976   PMID:19185004   PMID:19261551   PMID:19266607   PMID:19343046   PMID:19408031  
PMID:19584064   PMID:19593667   PMID:19674157   PMID:19794400   PMID:19840247   PMID:19913121   PMID:19998509   PMID:20163776   PMID:20414253   PMID:20422496   PMID:20453000   PMID:20628086  
PMID:20683201   PMID:20855565   PMID:21072184   PMID:21119540   PMID:21161147   PMID:21638239   PMID:21705081   PMID:21873635   PMID:21988832   PMID:21989363   PMID:22098322   PMID:22184139  
PMID:22331132   PMID:22387667   PMID:22982378   PMID:23022423   PMID:23261441   PMID:23468132   PMID:23533145   PMID:23574360   PMID:24045840   PMID:24122873   PMID:24140176   PMID:24366234  
PMID:24594635   PMID:24723470   PMID:24732756   PMID:24806754   PMID:25029804   PMID:25134534   PMID:25173835   PMID:25367630   PMID:25533467   PMID:25593501   PMID:25601960   PMID:25807286  
PMID:25882097   PMID:25888430   PMID:26153658   PMID:26242827   PMID:26256905   PMID:26410236   PMID:26474921   PMID:26699824   PMID:26735860   PMID:26789121   PMID:26796082   PMID:26845599  
PMID:27075526   PMID:27112167   PMID:27256251   PMID:27788395   PMID:27825922   PMID:28012258   PMID:28061436   PMID:28220208   PMID:28274756   PMID:28355206   PMID:28441502   PMID:28587926  
PMID:28733223   PMID:29238877   PMID:29371412   PMID:29777275   PMID:29992621   PMID:30079523   PMID:30091450   PMID:30449124   PMID:30782273   PMID:30964181   PMID:31105019   PMID:31176036  
PMID:31759867   PMID:31873305   PMID:31886153   PMID:32058310   PMID:32376413   PMID:32393512   PMID:32626542   PMID:32991311   PMID:33390354   PMID:33650203   PMID:33757843   PMID:33915153  
PMID:34107287   PMID:34209301   PMID:34376370   PMID:34597626   PMID:34942279   PMID:35150476   PMID:35203270   PMID:35288833   PMID:35741809   PMID:35894240   PMID:36108118   PMID:36397154  
PMID:36550572  


Genomics

Comparative Map Data
ABCB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38787,365,896 - 87,476,027 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl787,401,696 - 87,480,435 (-)EnsemblGRCh38hg38GRCh38
GRCh37787,031,012 - 87,104,996 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36786,869,297 - 86,942,955 (-)NCBINCBI36Build 36hg18NCBI36
Build 34786,676,016 - 86,754,402NCBI
Celera781,736,239 - 81,809,903 (-)NCBICelera
Cytogenetic Map7q21.12NCBI
HuRef781,642,357 - 81,716,022 (-)NCBIHuRef
CHM1_1786,961,467 - 87,035,121 (-)NCBICHM1_1
T2T-CHM13v2.0788,651,457 - 88,725,450 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)NCBI
Abcb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3958,943,614 - 9,009,226 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl58,943,717 - 9,009,231 (+)EnsemblGRCm39 Ensembl
GRCm3858,893,614 - 8,959,226 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl58,893,717 - 8,959,231 (+)EnsemblGRCm38mm10GRCm38
MGSCv3758,893,721 - 8,959,226 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3658,899,723 - 8,965,232 (+)NCBIMGSCv36mm8
Celera58,813,446 - 8,878,635 (+)NCBICelera
Cytogenetic Map5A1NCBI
cM Map53.43NCBI
Abcb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2425,150,998 - 25,209,489 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl425,151,953 - 25,209,202 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx430,150,422 - 30,207,776 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0426,076,666 - 26,134,014 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0424,463,506 - 24,520,702 (-)NCBIRnor_WKY
Rnor_6.0422,133,984 - 22,192,687 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl422,133,521 - 22,425,515 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0422,070,806 - 22,128,781 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4421,946,274 - 22,004,328 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1421,946,273 - 22,004,328 (+)NCBI
Celera420,645,103 - 20,702,285 (-)NCBICelera
Cytogenetic Map4q12NCBI
ABCB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1793,046,085 - 93,119,439 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl793,046,085 - 93,119,439 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0779,395,924 - 79,469,755 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ABCB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11413,542,610 - 13,614,334 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1413,548,462 - 13,614,571 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1413,114,115 - 13,185,936 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01413,307,604 - 13,379,530 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1413,307,601 - 13,379,692 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11413,510,779 - 13,582,706 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01413,236,739 - 13,308,588 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01413,520,259 - 13,592,210 (-)NCBIUU_Cfam_GSD_1.0
Abcb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511826,585,866 - 26,661,600 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367631,339,824 - 1,415,586 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049367631,339,849 - 1,415,528 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1993,171,371 - 93,262,124 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29102,651,665 - 102,741,039 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12161,459,344 - 61,529,017 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604242,535,591 - 42,605,958 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ABCB4
394 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000443.4(ABCB4):c.263C>G (p.Thr88Ser) single nucleotide variant not provided [RCV000731015] Chr7:87462781 [GRCh38]
Chr7:87092097 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=) single nucleotide variant not provided [RCV000727978] Chr7:87409317 [GRCh38]
Chr7:87038633 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) single nucleotide variant not provided [RCV000727983] Chr7:87462837 [GRCh38]
Chr7:87092153 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3280-1G>C single nucleotide variant not provided [RCV000729801] Chr7:87406495 [GRCh38]
Chr7:87035811 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) duplication Progressive familial intrahepatic cholestasis type 1 [RCV000987904]|not provided [RCV000729803] Chr7:87402211..87402212 [GRCh38]
Chr7:87031527..87031528 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.398T>C (p.Ile133Thr) single nucleotide variant not provided [RCV000728109] Chr7:87453082 [GRCh38]
Chr7:87082398 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987907]|not provided [RCV000728122]|not specified [RCV001731911] Chr7:87422220 [GRCh38]
Chr7:87051536 [GRCh37]
Chr7:7q21.12		 likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.2289T>G (p.Ile763Met) single nucleotide variant not provided [RCV000728285] Chr7:87422148 [GRCh38]
Chr7:87051464 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=) single nucleotide variant not provided [RCV000729603] Chr7:87423906 [GRCh38]
Chr7:87053222 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.834-2A>G single nucleotide variant not provided [RCV000729604] Chr7:87447207 [GRCh38]
Chr7:87076523 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.370G>T (p.Gly124Cys) single nucleotide variant not provided [RCV000729196] Chr7:87453110 [GRCh38]
Chr7:87082426 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) single nucleotide variant not provided [RCV000729199] Chr7:87439675 [GRCh38]
Chr7:87068991 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) deletion Progressive familial intrahepatic cholestasis type 3 [RCV000014682] Chr7:87453080..87453086 [GRCh38]
Chr7:87082396..87082402 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000033063]|Low phospholipid associated cholelithiasis [RCV000778841]|Progressive familial intrahepatic cholestasis type 3 [RCV000014683]|not provided [RCV001781265] Chr7:87411948 [GRCh38]
Chr7:87041264 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.1712del (p.Val571fs) deletion Cholestasis, intrahepatic, of pregnancy, 3 [RCV000033064]|Progressive familial intrahepatic cholestasis type 3 [RCV000014685] Chr7:87439686 [GRCh38]
Chr7:87069002 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000014687]|not provided [RCV000728477]|not specified [RCV002509158] Chr7:87439761 [GRCh38]
Chr7:87069077 [GRCh37]
Chr7:7q21.12		 pathogenic|uncertain significance
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000033065]|Low phospholipid associated cholelithiasis [RCV000014688]|Progressive familial intrahepatic cholestasis type 3 [RCV000190560]|not provided [RCV000498517] Chr7:87447080 [GRCh38]
Chr7:87076396 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001165181]|Low phospholipid associated cholelithiasis [RCV000014690]|Progressive familial intrahepatic cholestasis type 3 [RCV001158467]|not provided [RCV000224371]|not specified [RCV000244656] Chr7:87452957 [GRCh38]
Chr7:87082273 [GRCh37]
Chr7:7q21.12		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) single nucleotide variant Low phospholipid associated cholelithiasis [RCV000014691]|not provided [RCV000267429] Chr7:87406293 [GRCh38]
Chr7:87035609 [GRCh37]
Chr7:7q21.12		 pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) indel Cholestasis, intrahepatic, of pregnancy, 3 [RCV000033066]|Low phospholipid associated cholelithiasis [RCV000014692] Chr7:87443346..87443347 [GRCh38]
Chr7:87072662..87072663 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs) duplication Progressive familial intrahepatic cholestasis type 3 [RCV000014693] Chr7:87423947..87423948 [GRCh38]
Chr7:87053263..87053264 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV000014694] Chr7:87443686 [GRCh38]
Chr7:87073002 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000014695] Chr7:87453050 [GRCh38]
Chr7:87082366 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) single nucleotide variant ABCB4-related disorders [RCV000709935]|Cholestasis, intrahepatic, of pregnancy, 3 [RCV000014696]|Low phospholipid associated cholelithiasis [RCV000033067]|Progressive familial intrahepatic cholestasis type 1 [RCV000987909]|Progressive familial intrahepatic cholestasis type 3 [RCV000662150]|not provided [RCV000723739]|not specified [RCV000249752] Chr7:87431528 [GRCh38]
Chr7:87060844 [GRCh37]
Chr7:7q21.12		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) single nucleotide variant Low phospholipid associated cholelithiasis [RCV000033068] Chr7:87439765 [GRCh38]
Chr7:87069081 [GRCh37]
Chr7:7q21.12		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3 copy number gain See cases [RCV000053465] Chr7:86669909..87492659 [GRCh38]
Chr7:86299225..87121975 [GRCh37]
Chr7:86137161..86959911 [NCBI36]
Chr7:7q21.11-21.12		 uncertain significance
NM_018849.2(ABCB4):c.1374G>A (p.Gln458=) single nucleotide variant Malignant melanoma [RCV000067981] Chr7:87440385 [GRCh38]
Chr7:87069701 [GRCh37]
Chr7:86907637 [NCBI36]
Chr7:7q21.12		 not provided
NM_018849.2(ABCB4):c.3046C>T (p.Leu1016=) single nucleotide variant Malignant melanoma [RCV000061692] Chr7:87409271 [GRCh38]
Chr7:87038587 [GRCh37]
Chr7:86876523 [NCBI36]
Chr7:7q21.12		 not provided
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001331237]|Progressive familial intrahepatic cholestasis type 3 [RCV000656338]|not provided [RCV000171407] Chr7:87411911 [GRCh38]
Chr7:87041227 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.2211+1G>A single nucleotide variant not provided [RCV000175138] Chr7:87423905 [GRCh38]
Chr7:87053221 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001160034]|Progressive familial intrahepatic cholestasis type 3 [RCV001160035]|not provided [RCV000965756]|not specified [RCV000175398] Chr7:87420029 [GRCh38]
Chr7:87049345 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161562]|Progressive familial intrahepatic cholestasis type 3 [RCV001161563]|not provided [RCV000961801]|not specified [RCV000174682] Chr7:87439814 [GRCh38]
Chr7:87069130 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.833+6G>A single nucleotide variant not provided [RCV000966197]|not specified [RCV000180162] Chr7:87449962 [GRCh38]
Chr7:87079278 [GRCh37]
Chr7:7q21.12		 benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000346207]|Progressive familial intrahepatic cholestasis type 3 [RCV000288953]|not provided [RCV002054130]|not specified [RCV000179313] Chr7:87452976 [GRCh38]
Chr7:87082292 [GRCh37]
Chr7:7q21.12		 benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV001808448]|Progressive familial intrahepatic cholestasis type 3 [RCV002500473]|not provided [RCV000597550] Chr7:87423940 [GRCh38]
Chr7:87053256 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 7q21.12(chr7:87418490-87492600)x3 copy number gain See cases [RCV000139855] Chr7:87418490..87492600 [GRCh38]
Chr7:87047806..87121916 [GRCh37]
Chr7:86885742..86959852 [NCBI36]
Chr7:7q21.12		 uncertain significance
GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1 copy number loss See cases [RCV000139869] Chr7:87379476..91731873 [GRCh38]
Chr7:87008792..91361188 [GRCh37]
Chr7:86846728..91199124 [NCBI36]
Chr7:7q21.12-21.2		 likely pathogenic|uncertain significance
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3		 pathogenic
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) single nucleotide variant Low phospholipid associated cholelithiasis [RCV000391687]|Progressive familial intrahepatic cholestasis [RCV002282001]|not provided [RCV000724891] Chr7:87462904 [GRCh38]
Chr7:87092220 [GRCh37]
Chr7:7q21.12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.438C>T (p.Ile146=) single nucleotide variant not provided [RCV000179314] Chr7:87453042 [GRCh38]
Chr7:87082358 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) single nucleotide variant not specified [RCV000180161] Chr7:87450089 [GRCh38]
Chr7:87079405 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987920]|Progressive familial intrahepatic cholestasis type 3 [RCV000764725]|not provided [RCV000177067] Chr7:87472655 [GRCh38]
Chr7:87101971 [GRCh37]
Chr7:7q21.12		 benign|uncertain significance
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003934]|not provided [RCV000176528] Chr7:87408086 [GRCh38]
Chr7:87037402 [GRCh37]
Chr7:7q21.12		 likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter) single nucleotide variant not provided [RCV000263961] Chr7:87403160 [GRCh38]
Chr7:87032476 [GRCh37]
Chr7:7q21.12		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000365076]|Progressive familial intrahepatic cholestasis type 3 [RCV000308195]|not provided [RCV000725183]|not specified [RCV000348300] Chr7:87409280 [GRCh38]
Chr7:87038596 [GRCh37]
Chr7:7q21.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000297587]|Progressive familial intrahepatic cholestasis type 3 [RCV000268294]|not provided [RCV000592358] Chr7:87431513 [GRCh38]
Chr7:87060829 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2395-19C>T single nucleotide variant not provided [RCV002519882]|not specified [RCV000247002] Chr7:87418639 [GRCh38]
Chr7:87047955 [GRCh37]
Chr7:7q21.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.-1G>A single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000356528]|Progressive familial intrahepatic cholestasis type 3 [RCV000299312]|not specified [RCV000249430] Chr7:87475466 [GRCh38]
Chr7:87104782 [GRCh37]
Chr7:7q21.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000283287]|Progressive familial intrahepatic cholestasis type 3 [RCV000384691]|not provided [RCV000955374]|not specified [RCV000247269] Chr7:87453021 [GRCh38]
Chr7:87082337 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.3487-16T>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001548904]|Progressive familial intrahepatic cholestasis type 3 [RCV001548905]|not provided [RCV002057359]|not specified [RCV000242703] Chr7:87403297 [GRCh38]
Chr7:87032613 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000340525]|Progressive familial intrahepatic cholestasis type 3 [RCV000400898]|not provided [RCV002057356]|not specified [RCV000245179] Chr7:87462869 [GRCh38]
Chr7:87092185 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000343693]|Progressive familial intrahepatic cholestasis type 3 [RCV000677337]|not provided [RCV002057357]|not specified [RCV000245480] Chr7:87426860 [GRCh38]
Chr7:87056176 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000275204]|Progressive familial intrahepatic cholestasis type 3 [RCV000385962]|not provided [RCV002057360]|not specified [RCV000247989] Chr7:87450090 [GRCh38]
Chr7:87079406 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.2211+16C>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001548908]|Progressive familial intrahepatic cholestasis type 3 [RCV001548909]|not provided [RCV002057358]|not specified [RCV000250441] Chr7:87423890 [GRCh38]
Chr7:87053206 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1893+6T>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000347254]|Progressive familial intrahepatic cholestasis type 3 [RCV000392524]|not provided [RCV000955182]|not specified [RCV000253080] Chr7:87431398 [GRCh38]
Chr7:87060714 [GRCh37]
Chr7:7q21.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) single nucleotide variant not provided [RCV000729873]|not specified [RCV000250728] Chr7:87406393 [GRCh38]
Chr7:87035709 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000334281]|Progressive familial intrahepatic cholestasis type 3 [RCV000305097]|not provided [RCV000955375]|not specified [RCV000253197] Chr7:87462897 [GRCh38]
Chr7:87092213 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000359312]|Progressive familial intrahepatic cholestasis type 3 [RCV000267319]|not provided [RCV000733560]|not specified [RCV002265747] Chr7:87423980 [GRCh38]
Chr7:87053296 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000381174]|Progressive familial intrahepatic cholestasis type 3 [RCV000333564]|not provided [RCV000885190]|not specified [RCV000596572] Chr7:87451635 [GRCh38]
Chr7:87080951 [GRCh37]
Chr7:7q21.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000371047]|Progressive familial intrahepatic cholestasis type 3 [RCV000407788] Chr7:87408085 [GRCh38]
Chr7:87037401 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000324863]|Progressive familial intrahepatic cholestasis type 3 [RCV000372534] Chr7:87426759 [GRCh38]
Chr7:87056075 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000350503]|Progressive familial intrahepatic cholestasis type 3 [RCV000387701] Chr7:87426844 [GRCh38]
Chr7:87056160 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000320949]|Progressive familial intrahepatic cholestasis type 3 [RCV000272765] Chr7:87417459 [GRCh38]
Chr7:87046775 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.-6-4T>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000312420]|Progressive familial intrahepatic cholestasis type 3 [RCV000273705]|not specified [RCV000438451] Chr7:87475475 [GRCh38]
Chr7:87104791 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000398504]|Progressive familial intrahepatic cholestasis type 3 [RCV000308731]|not provided [RCV001702632]|not specified [RCV000611731] Chr7:87426876 [GRCh38]
Chr7:87056192 [GRCh37]
Chr7:7q21.12		 benign|likely benign|uncertain significance
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000375977]|Progressive familial intrahepatic cholestasis type 3 [RCV000293192]|not provided [RCV000592342] Chr7:87426832 [GRCh38]
Chr7:87056148 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000261242]|Progressive familial intrahepatic cholestasis type 3 [RCV000319059]|not provided [RCV000594388] Chr7:87426767 [GRCh38]
Chr7:87056083 [GRCh37]
Chr7:7q21.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000314096]|Progressive familial intrahepatic cholestasis type 3 [RCV000407779]|not provided [RCV000727090]|not specified [RCV000422791] Chr7:87406489 [GRCh38]
Chr7:87035805 [GRCh37]
Chr7:7q21.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000354817]|Progressive familial intrahepatic cholestasis type 3 [RCV000319652] Chr7:87447112 [GRCh38]
Chr7:87076428 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000338002]|Progressive familial intrahepatic cholestasis type 3 [RCV000280580]|not provided [RCV000911158] Chr7:87406402 [GRCh38]
Chr7:87035718 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.3811A>C (p.Ser1271Arg) single nucleotide variant not provided [RCV000373466] Chr7:87402125 [GRCh38]
Chr7:87031441 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1834G>A (p.Gly612Arg) single nucleotide variant not provided [RCV000374569] Chr7:87431463 [GRCh38]
Chr7:87060779 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3334C>G (p.Leu1112Val) single nucleotide variant not provided [RCV000340785] Chr7:87406440 [GRCh38]
Chr7:87035756 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1817G>T (p.Gly606Val) single nucleotide variant not provided [RCV000341164] Chr7:87431480 [GRCh38]
Chr7:87060796 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.911C>A (p.Ala304Asp) single nucleotide variant not provided [RCV000379042] Chr7:87447128 [GRCh38]
Chr7:87076444 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2191A>G (p.Ile731Val) single nucleotide variant not provided [RCV000345188] Chr7:87423926 [GRCh38]
Chr7:87053242 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2198C>T (p.Ser733Leu) single nucleotide variant not provided [RCV000379828] Chr7:87423919 [GRCh38]
Chr7:87053235 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3533G>T (p.Gly1178Val) single nucleotide variant not provided [RCV000346589] Chr7:87403235 [GRCh38]
Chr7:87032551 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.81-16A>G single nucleotide variant not provided [RCV002518906]|not specified [RCV000312515] Chr7:87472691 [GRCh38]
Chr7:87102007 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3486+10dup duplication not provided [RCV001537837]|not specified [RCV000348201] Chr7:87406277..87406278 [GRCh38]
Chr7:87035593..87035594 [GRCh37]
Chr7:7q21.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter) single nucleotide variant not provided [RCV000330346] Chr7:87411984 [GRCh38]
Chr7:87041300 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter) single nucleotide variant not provided [RCV000335504] Chr7:87417368 [GRCh38]
Chr7:87046684 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003941]|Progressive familial intrahepatic cholestasis [RCV002298568]|Progressive familial intrahepatic cholestasis type 1 [RCV000987913]|not provided [RCV000427203] Chr7:87440230 [GRCh38]
Chr7:87069546 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) single nucleotide variant not provided [RCV000282427] Chr7:87454576 [GRCh38]
Chr7:87083892 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2708_2710del (p.Ile903del) deletion not provided [RCV000283390] Chr7:87413690..87413692 [GRCh38]
Chr7:87043006..87043008 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) single nucleotide variant not provided [RCV000355779] Chr7:87450084 [GRCh38]
Chr7:87079400 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) single nucleotide variant not provided [RCV000389317] Chr7:87440346 [GRCh38]
Chr7:87069662 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001164952]|Progressive familial intrahepatic cholestasis type 1 [RCV000987905]|Progressive familial intrahepatic cholestasis type 3 [RCV001164953]|See cases [RCV002252078]|not provided [RCV000413855]|not specified [RCV000322710] Chr7:87412017 [GRCh38]
Chr7:87041333 [GRCh37]
Chr7:7q21.12		 likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.709A>T (p.Ile237Leu) single nucleotide variant not provided [RCV000322972] Chr7:87450092 [GRCh38]
Chr7:87079408 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1415T>C (p.Ile472Thr) single nucleotide variant not provided [RCV000394992] Chr7:87440344 [GRCh38]
Chr7:87069660 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2625G>A (p.Met875Ile) single nucleotide variant not provided [RCV000396353] Chr7:87417369 [GRCh38]
Chr7:87046685 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.-18G>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000277688]|Progressive familial intrahepatic cholestasis type 3 [RCV000369391]|Progressive familial intrahepatic cholestasis type 3 [RCV002481236] Chr7:87475645 [GRCh38]
Chr7:87104961 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3436A>C (p.Ser1146Arg) single nucleotide variant not provided [RCV000326416] Chr7:87406338 [GRCh38]
Chr7:87035654 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161566]|Progressive familial intrahepatic cholestasis type 3 [RCV001161565]|not provided [RCV000971217]|not specified [RCV000362178] Chr7:87443361 [GRCh38]
Chr7:87072677 [GRCh37]
Chr7:7q21.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.2211+5G>A single nucleotide variant not provided [RCV000399467] Chr7:87423901 [GRCh38]
Chr7:87053217 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer) indel not provided [RCV000394729] Chr7:87417368..87417369 [GRCh38]
Chr7:87046684..87046685 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) single nucleotide variant not provided [RCV000260404] Chr7:87406297 [GRCh38]
Chr7:87035613 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr) single nucleotide variant not provided [RCV000262952] Chr7:87450041 [GRCh38]
Chr7:87079357 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.910G>T (p.Ala304Ser) single nucleotide variant Inborn genetic diseases [RCV002518116]|not provided [RCV000294006] Chr7:87447129 [GRCh38]
Chr7:87076445 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3371G>A (p.Cys1124Tyr) single nucleotide variant not provided [RCV000363752] Chr7:87406403 [GRCh38]
Chr7:87035719 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1855AAG[1] (p.Lys620del) microsatellite not provided [RCV000263254] Chr7:87431437..87431439 [GRCh38]
Chr7:87060753..87060755 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) single nucleotide variant not provided [RCV000300240] Chr7:87423952 [GRCh38]
Chr7:87053268 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3013G>A (p.Ala1005Thr) single nucleotide variant not provided [RCV000404368] Chr7:87409304 [GRCh38]
Chr7:87038620 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met) single nucleotide variant not provided [RCV000406075] Chr7:87452956 [GRCh38]
Chr7:87082272 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) single nucleotide variant not provided [RCV000268204] Chr7:87462804 [GRCh38]
Chr7:87092120 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg) single nucleotide variant not provided [RCV000726408] Chr7:87402098 [GRCh38]
Chr7:87031414 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3347C>G (p.Ser1116Cys) single nucleotide variant not provided [RCV000371451] Chr7:87406427 [GRCh38]
Chr7:87035743 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1472G>T (p.Cys491Phe) single nucleotide variant not provided [RCV000408077] Chr7:87440287 [GRCh38]
Chr7:87069603 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.577G>A (p.Gly193Arg) single nucleotide variant not provided [RCV000598188] Chr7:87451754 [GRCh38]
Chr7:87081070 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3469_3471del (p.Ile1157del) deletion not provided [RCV000598230] Chr7:87406303..87406305 [GRCh38]
Chr7:87035619..87035621 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1563A>G (p.Lys521=) single nucleotide variant not provided [RCV000489284] Chr7:87439835 [GRCh38]
Chr7:87069151 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1015del (p.Ser339fs) deletion not provided [RCV000594323] Chr7:87444966 [GRCh38]
Chr7:87074282 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) single nucleotide variant not provided [RCV000594939] Chr7:87453114 [GRCh38]
Chr7:87082430 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter) single nucleotide variant not provided [RCV000595315] Chr7:87443749 [GRCh38]
Chr7:87073065 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) single nucleotide variant not provided [RCV000596568] Chr7:87413670 [GRCh38]
Chr7:87042986 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly) single nucleotide variant Inborn genetic diseases [RCV002532496]|not provided [RCV000596869] Chr7:87402260 [GRCh38]
Chr7:87031576 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV000360654]|Progressive familial intrahepatic cholestasis type 3 [RCV000303597] Chr7:87431439 [GRCh38]
Chr7:87060755 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1119+8A>C single nucleotide variant not provided [RCV000727293]|not specified [RCV000596954] Chr7:87444854 [GRCh38]
Chr7:87074170 [GRCh37]
Chr7:7q21.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.3280-9G>A single nucleotide variant not provided [RCV000597343] Chr7:87406503 [GRCh38]
Chr7:87035819 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.996T>C (p.Asn332=) single nucleotide variant not specified [RCV000600130] Chr7:87447043 [GRCh38]
Chr7:87076359 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg) single nucleotide variant not provided [RCV000593948] Chr7:87449993 [GRCh38]
Chr7:87079309 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.280T>C (p.Phe94Leu) single nucleotide variant not provided [RCV000596029] Chr7:87462764 [GRCh38]
Chr7:87092080 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=) single nucleotide variant not provided [RCV000598379] Chr7:87443442 [GRCh38]
Chr7:87072758 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1577T>G (p.Val526Gly) single nucleotide variant not provided [RCV000591695] Chr7:87439821 [GRCh38]
Chr7:87069137 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2212-5T>A single nucleotide variant not provided [RCV000592179] Chr7:87422230 [GRCh38]
Chr7:87051546 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1373A>C (p.Gln458Pro) single nucleotide variant not provided [RCV000592282] Chr7:87440386 [GRCh38]
Chr7:87069702 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs) deletion not provided [RCV000730110] Chr7:87424029..87424035 [GRCh38]
Chr7:87053345..87053351 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1120-8T>A single nucleotide variant not provided [RCV000592497] Chr7:87443781 [GRCh38]
Chr7:87073097 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2905C>T (p.Arg969Cys) single nucleotide variant not provided [RCV000592816] Chr7:87411912 [GRCh38]
Chr7:87041228 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.101_102delinsAA (p.Thr34Lys) indel not specified [RCV000598624] Chr7:87472654..87472655 [GRCh38]
Chr7:87101970..87101971 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2065-3T>C single nucleotide variant not provided [RCV000597051] Chr7:87424055 [GRCh38]
Chr7:87053371 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) single nucleotide variant not provided [RCV000592973] Chr7:87450022 [GRCh38]
Chr7:87079338 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1979C>T (p.Ser660Phe) single nucleotide variant not provided [RCV000593040] Chr7:87426835 [GRCh38]
Chr7:87056151 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1963C>G (p.Pro655Ala) single nucleotide variant Inborn genetic diseases [RCV002532632]|not provided [RCV000593096] Chr7:87426851 [GRCh38]
Chr7:87056167 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3633+9G>A single nucleotide variant not provided [RCV000593149] Chr7:87403126 [GRCh38]
Chr7:87032442 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3633+1G>T single nucleotide variant not provided [RCV000593172] Chr7:87403134 [GRCh38]
Chr7:87032450 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) single nucleotide variant not provided [RCV000593245] Chr7:87408205 [GRCh38]
Chr7:87037521 [GRCh37]
Chr7:7q21.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.833G>A (p.Arg278Lys) single nucleotide variant not provided [RCV000598438] Chr7:87449968 [GRCh38]
Chr7:87079284 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1119T>C (p.Asn373=) single nucleotide variant not provided [RCV000596383] Chr7:87444862 [GRCh38]
Chr7:87074178 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3131C>T (p.Pro1044Leu) single nucleotide variant not provided [RCV000596966] Chr7:87408185 [GRCh38]
Chr7:87037501 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3451G>A (p.Ala1151Thr) single nucleotide variant not provided [RCV000593806] Chr7:87406323 [GRCh38]
Chr7:87035639 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter) single nucleotide variant not provided [RCV000591095] Chr7:87418542 [GRCh38]
Chr7:87047858 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3664G>A (p.Glu1222Lys) single nucleotide variant not provided [RCV000591229] Chr7:87402272 [GRCh38]
Chr7:87031588 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr) single nucleotide variant not provided [RCV000591612] Chr7:87406476 [GRCh38]
Chr7:87035792 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.80+5A>C single nucleotide variant not provided [RCV000730138] Chr7:87475381 [GRCh38]
Chr7:87104697 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001331238]|Progressive familial intrahepatic cholestasis [RCV002282130]|not provided [RCV000414549] Chr7:87452954 [GRCh38]
Chr7:87082270 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter) single nucleotide variant not provided [RCV000730205] Chr7:87440258 [GRCh38]
Chr7:87069574 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe) single nucleotide variant not provided [RCV000730545] Chr7:87440381 [GRCh38]
Chr7:87069697 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1651C>A (p.Pro551Thr) single nucleotide variant not provided [RCV000730590] Chr7:87439747 [GRCh38]
Chr7:87069063 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2581T>G (p.Leu861Val) single nucleotide variant Inborn genetic diseases [RCV002531087]|not provided [RCV000595345] Chr7:87417413 [GRCh38]
Chr7:87046729 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) single nucleotide variant not provided [RCV000730277] Chr7:87409284 [GRCh38]
Chr7:87038600 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2137G>T (p.Val713Leu) single nucleotide variant not provided [RCV000730320] Chr7:87423980 [GRCh38]
Chr7:87053296 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3565C>G (p.Leu1189Val) single nucleotide variant not provided [RCV000731950] Chr7:87403203 [GRCh38]
Chr7:87032519 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1063G>A (p.Asp355Asn) single nucleotide variant not provided [RCV000732029] Chr7:87444918 [GRCh38]
Chr7:87074234 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.179G>T (p.Gly60Val) single nucleotide variant not provided [RCV000732031] Chr7:87462865 [GRCh38]
Chr7:87092181 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV001161564]|not provided [RCV000732990] Chr7:87440290 [GRCh38]
Chr7:87069606 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2435C>A (p.Ala812Glu) single nucleotide variant not provided [RCV000733756] Chr7:87418580 [GRCh38]
Chr7:87047896 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001159926]|Progressive familial intrahepatic cholestasis type 3 [RCV001159927]|not provided [RCV000728466] Chr7:87406298 [GRCh38]
Chr7:87035614 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001165062]|Progressive familial intrahepatic cholestasis type 3 [RCV001165061]|not provided [RCV000729573] Chr7:87426862 [GRCh38]
Chr7:87056178 [GRCh37]
Chr7:7q21.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) single nucleotide variant not provided [RCV000841302]|not specified [RCV000729575] Chr7:87431476 [GRCh38]
Chr7:87060792 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) single nucleotide variant not provided [RCV000729987] Chr7:87422142 [GRCh38]
Chr7:87051458 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter) single nucleotide variant not provided [RCV000731158] Chr7:87447107 [GRCh38]
Chr7:87076423 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=) single nucleotide variant not provided [RCV000732110] Chr7:87408058 [GRCh38]
Chr7:87037374 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2703A>G (p.Glu901=) single nucleotide variant not provided [RCV000733092] Chr7:87413697 [GRCh38]
Chr7:87043013 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3179A>C (p.Lys1060Thr) single nucleotide variant not provided [RCV000733097] Chr7:87408137 [GRCh38]
Chr7:87037453 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3250C>T (p.Arg1084Trp) single nucleotide variant not provided [RCV000733103] Chr7:87408066 [GRCh38]
Chr7:87037382 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987918]|not provided [RCV000734366] Chr7:87453049 [GRCh38]
Chr7:87082365 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2718_2720del (p.Val907del) deletion not provided [RCV000735091] Chr7:87413680..87413682 [GRCh38]
Chr7:87042996..87042998 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001158470]|Progressive familial intrahepatic cholestasis type 3 [RCV000764724]|not provided [RCV000416002] Chr7:87462827 [GRCh38]
Chr7:87092143 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2011C>T (p.Leu671Phe) single nucleotide variant not provided [RCV000728479] Chr7:87426803 [GRCh38]
Chr7:87056119 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1864G>T (p.Gly622Trp) single nucleotide variant not provided [RCV000731391] Chr7:87431433 [GRCh38]
Chr7:87060749 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3431T>C (p.Ile1144Thr) single nucleotide variant not provided [RCV000733163] Chr7:87406343 [GRCh38]
Chr7:87035659 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) single nucleotide variant not provided [RCV000733186] Chr7:87406363 [GRCh38]
Chr7:87035679 [GRCh37]
Chr7:7q21.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.476G>A (p.Arg159Gln) single nucleotide variant not provided [RCV000733188] Chr7:87453004 [GRCh38]
Chr7:87082320 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3279+5G>A single nucleotide variant not provided [RCV000733219] Chr7:87408032 [GRCh38]
Chr7:87037348 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2687C>A (p.Ala896Glu) single nucleotide variant not provided [RCV000733221] Chr7:87413713 [GRCh38]
Chr7:87043029 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.979G>A (p.Glu327Lys) single nucleotide variant not provided [RCV000733224] Chr7:87447060 [GRCh38]
Chr7:87076376 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3081+1G>C single nucleotide variant not provided [RCV000594231] Chr7:87409235 [GRCh38]
Chr7:87038551 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter) single nucleotide variant not provided [RCV000594235] Chr7:87462905 [GRCh38]
Chr7:87092221 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001162879]|Progressive familial intrahepatic cholestasis type 3 [RCV001161330]|Progressive familial intrahepatic cholestasis type 3 [RCV002485938]|not provided [RCV000734400] Chr7:87406478 [GRCh38]
Chr7:87035794 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2316+1G>A single nucleotide variant not provided [RCV000734442] Chr7:87422120 [GRCh38]
Chr7:87051436 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His) single nucleotide variant not provided [RCV000728643]|not specified [RCV002249440] Chr7:87440278 [GRCh38]
Chr7:87069594 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3299C>T (p.Ala1100Val) single nucleotide variant not provided [RCV000728788] Chr7:87406475 [GRCh38]
Chr7:87035791 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.345-2A>G single nucleotide variant not provided [RCV000730373] Chr7:87453137 [GRCh38]
Chr7:87082453 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) single nucleotide variant not provided [RCV000731397] Chr7:87472654 [GRCh38]
Chr7:87101970 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1043G>C (p.Gly348Ala) single nucleotide variant not provided [RCV000731399] Chr7:87444938 [GRCh38]
Chr7:87074254 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3247G>A (p.Glu1083Lys) single nucleotide variant not provided [RCV000732289] Chr7:87408069 [GRCh38]
Chr7:87037385 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161326]|Progressive familial intrahepatic cholestasis type 3 [RCV001161327]|not provided [RCV000734512] Chr7:87406372 [GRCh38]
Chr7:87035688 [GRCh37]
Chr7:7q21.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.54G>A (p.Glu18=) single nucleotide variant not provided [RCV000734544] Chr7:87475412 [GRCh38]
Chr7:87104728 [GRCh37]
Chr7:7q21.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.2899C>T (p.His967Tyr) single nucleotide variant not provided [RCV000728922] Chr7:87411918 [GRCh38]
Chr7:87041234 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3577C>A (p.Pro1193Thr) single nucleotide variant not provided [RCV000728936] Chr7:87403191 [GRCh38]
Chr7:87032507 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) single nucleotide variant not provided [RCV000732385] Chr7:87408072 [GRCh38]
Chr7:87037388 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly) single nucleotide variant not provided [RCV000732399] Chr7:87475387 [GRCh38]
Chr7:87104703 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.879del (p.Ala294fs) deletion not provided [RCV000733982] Chr7:87447160 [GRCh38]
Chr7:87076476 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3434T>C (p.Val1145Ala) single nucleotide variant not provided [RCV000733986] Chr7:87406340 [GRCh38]
Chr7:87035656 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3337G>A (p.Gly1113Arg) single nucleotide variant not provided [RCV000734586] Chr7:87406437 [GRCh38]
Chr7:87035753 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter) single nucleotide variant not provided [RCV000734602] Chr7:87472662 [GRCh38]
Chr7:87101978 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2699T>C (p.Ile900Thr) single nucleotide variant not provided [RCV000734603] Chr7:87413701 [GRCh38]
Chr7:87043017 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) single nucleotide variant not provided [RCV000734629] Chr7:87412006 [GRCh38]
Chr7:87041322 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro) single nucleotide variant ABCB4-Related Intrahepatic Cholestasis [RCV001836649]|Low phospholipid associated cholelithiasis [RCV000735791] Chr7:87409385 [GRCh38]
Chr7:87038701 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.2863T>G (p.Cys955Gly) single nucleotide variant not provided [RCV000733329] Chr7:87411954 [GRCh38]
Chr7:87041270 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1943del (p.Lys648fs) deletion not provided [RCV000733333] Chr7:87426871 [GRCh38]
Chr7:87056187 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.302C>T (p.Ser101Leu) single nucleotide variant not provided [RCV000734732] Chr7:87454577 [GRCh38]
Chr7:87083893 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3488A>T (p.Lys1163Ile) single nucleotide variant not provided [RCV000734768] Chr7:87403280 [GRCh38]
Chr7:87032596 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2936C>A (p.Ala979Glu) single nucleotide variant not provided [RCV000732526] Chr7:87409381 [GRCh38]
Chr7:87038697 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003563]|Progressive familial intrahepatic cholestasis type 1 [RCV000987917]|not provided [RCV000732592] Chr7:87453005 [GRCh38]
Chr7:87082321 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.2828_2829delinsAT (p.Ile943Asn) indel not provided [RCV000734831] Chr7:87411988..87411989 [GRCh38]
Chr7:87041304..87041305 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2683-883_2783+345del deletion Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003855] Chr7:87413272..87414600 [GRCh38]
Chr7:87042588..87043916 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2113A>G (p.Lys705Glu) single nucleotide variant not provided [RCV000732700] Chr7:87424004 [GRCh38]
Chr7:87053320 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2477G>A (p.Gly826Glu) single nucleotide variant not provided [RCV000734212] Chr7:87418538 [GRCh38]
Chr7:87047854 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter) single nucleotide variant not provided [RCV000729870] Chr7:87426812 [GRCh38]
Chr7:87056128 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1672G>A (p.Glu558Lys) single nucleotide variant not provided [RCV000729871] Chr7:87439726 [GRCh38]
Chr7:87069042 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter) single nucleotide variant not provided [RCV000731675] Chr7:87447112 [GRCh38]
Chr7:87076428 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3004C>T (p.Leu1002=) single nucleotide variant not provided [RCV000732788] Chr7:87409313 [GRCh38]
Chr7:87038629 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3268G>C (p.Ala1090Pro) single nucleotide variant not provided [RCV000732802] Chr7:87408048 [GRCh38]
Chr7:87037364 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3001A>G (p.Lys1001Glu) single nucleotide variant not provided [RCV000733666] Chr7:87409316 [GRCh38]
Chr7:87038632 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs) indel not provided [RCV000733668] Chr7:87439750..87439763 [GRCh38]
Chr7:87069066..87069079 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1646G>A (p.Arg549His) single nucleotide variant not provided [RCV000594945] Chr7:87439752 [GRCh38]
Chr7:87069068 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) deletion Progressive familial intrahepatic cholestasis type 1 [RCV000987912]|not provided [RCV000730742] Chr7:87440206 [GRCh38]
Chr7:87069522 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1603G>A (p.Gly535Ser) single nucleotide variant not provided [RCV000731776] Chr7:87439795 [GRCh38]
Chr7:87069111 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.609dup (p.Ala204fs) duplication not provided [RCV000732887] Chr7:87451721..87451722 [GRCh38]
Chr7:87081037..87081038 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1073C>A (p.Ala358Asp) single nucleotide variant not specified [RCV000413010] Chr7:87444908 [GRCh38]
Chr7:87074224 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1230+3A>G single nucleotide variant not provided [RCV000731835] Chr7:87443660 [GRCh38]
Chr7:87072976 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3415G>T (p.Val1139Leu) single nucleotide variant not provided [RCV000731924] Chr7:87406359 [GRCh38]
Chr7:87035675 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.174G>A (p.Ser58=) single nucleotide variant not provided [RCV000734923] Chr7:87462870 [GRCh38]
Chr7:87092186 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2316G>A (p.Gln772=) single nucleotide variant not provided [RCV000729250] Chr7:87422121 [GRCh38]
Chr7:87051437 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.377G>A (p.Gly126Glu) single nucleotide variant not provided [RCV000729253] Chr7:87453103 [GRCh38]
Chr7:87082419 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.536+9A>G single nucleotide variant not provided [RCV000729274] Chr7:87452935 [GRCh38]
Chr7:87082251 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1004C>G (p.Thr335Arg) single nucleotide variant not provided [RCV000730874] Chr7:87447035 [GRCh38]
Chr7:87076351 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1285G>A (p.Gly429Arg) single nucleotide variant not provided [RCV000734935] Chr7:87443390 [GRCh38]
Chr7:87072706 [GRCh37]
Chr7:7q21.12		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001159922]|Progressive familial intrahepatic cholestasis type 3 [RCV001159923]|not specified [RCV000417701] Chr7:87403225 [GRCh38]
Chr7:87032541 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.1560+16A>G single nucleotide variant not specified [RCV000437877] Chr7:87440183 [GRCh38]
Chr7:87069499 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161452]|Progressive familial intrahepatic cholestasis type 1 [RCV000987908]|Progressive familial intrahepatic cholestasis type 3 [RCV001162981]|not provided [RCV000724634] Chr7:87423973 [GRCh38]
Chr7:87053289 [GRCh37]
Chr7:7q21.12		 pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1230+15A>G single nucleotide variant not specified [RCV000425274] Chr7:87443648 [GRCh38]
Chr7:87072964 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) single nucleotide variant not provided [RCV000726991]|not specified [RCV000425538] Chr7:87452955 [GRCh38]
Chr7:87082271 [GRCh37]
Chr7:7q21.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161446]|Progressive familial intrahepatic cholestasis type 3 [RCV001161447]|not provided [RCV000968614]|not specified [RCV000432934] Chr7:87420067 [GRCh38]
Chr7:87049383 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2619T>G (p.Val873=) single nucleotide variant not specified [RCV000436451] Chr7:87417375 [GRCh38]
Chr7:87046691 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001164950]|Progressive familial intrahepatic cholestasis type 3 [RCV001164951]|not provided [RCV000973411]|not specified [RCV000430020] Chr7:87409365 [GRCh38]
Chr7:87038681 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.1231-16C>T single nucleotide variant not specified [RCV000430345] Chr7:87443460 [GRCh38]
Chr7:87072776 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1357-17A>G single nucleotide variant not provided [RCV002521827]|not specified [RCV000423262] Chr7:87440419 [GRCh38]
Chr7:87069735 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.2394+13G>A single nucleotide variant not specified [RCV000430582] Chr7:87419985 [GRCh38]
Chr7:87049301 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1143A>G (p.Ser381=) single nucleotide variant not specified [RCV000441042] Chr7:87443750 [GRCh38]
Chr7:87073066 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) single nucleotide variant not provided [RCV000958947]|not specified [RCV000444846] Chr7:87453024 [GRCh38]
Chr7:87082340 [GRCh37]
Chr7:7q21.12		 benign|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met) single nucleotide variant not provided [RCV000596236]|not specified [RCV002265817] Chr7:87443362 [GRCh38]
Chr7:87072678 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) single nucleotide variant not provided [RCV000594854] Chr7:87406448 [GRCh38]
Chr7:87035764 [GRCh37]
Chr7:7q21.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.1006-2A>C single nucleotide variant not provided [RCV000596943] Chr7:87444977 [GRCh38]
Chr7:87074293 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met) single nucleotide variant not provided [RCV000595281]|not specified [RCV002282252] Chr7:87451729 [GRCh38]
Chr7:87081045 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1895C>T (p.Thr632Ile) single nucleotide variant not provided [RCV000595815] Chr7:87426919 [GRCh38]
Chr7:87056235 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val) single nucleotide variant not provided [RCV000595866] Chr7:87420074 [GRCh38]
Chr7:87049390 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.100dup (p.Thr34fs) duplication not provided [RCV000595139] Chr7:87472655..87472656 [GRCh38]
Chr7:87101971..87101972 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2446del (p.Arg816fs) deletion not provided [RCV000595404] Chr7:87418569 [GRCh38]
Chr7:87047885 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2395-3T>C single nucleotide variant not provided [RCV000596344] Chr7:87418623 [GRCh38]
Chr7:87047939 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3149C>T (p.Pro1050Leu) single nucleotide variant not provided [RCV000597326] Chr7:87408167 [GRCh38]
Chr7:87037483 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.928G>A (p.Ala310Thr) single nucleotide variant not provided [RCV000597514] Chr7:87447111 [GRCh38]
Chr7:87076427 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3486+1G>A single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003932]|Progressive familial intrahepatic cholestasis [RCV002469217]|not provided [RCV000594775] Chr7:87406287 [GRCh38]
Chr7:87035603 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.201C>T (p.His67=) single nucleotide variant not provided [RCV000728280]|not specified [RCV000613674] Chr7:87462843 [GRCh38]
Chr7:87092159 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) single nucleotide variant not provided [RCV000595269] Chr7:87402120 [GRCh38]
Chr7:87031436 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) single nucleotide variant not provided [RCV000732741]|not specified [RCV000610911] Chr7:87406303 [GRCh38]
Chr7:87035619 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) single nucleotide variant not provided [RCV000732149]|not specified [RCV000613777] Chr7:87420067 [GRCh38]
Chr7:87049383 [GRCh37]
Chr7:7q21.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.536+11T>C single nucleotide variant not provided [RCV002066690]|not specified [RCV000609018] Chr7:87452933 [GRCh38]
Chr7:87082249 [GRCh37]
Chr7:7q21.12		 benign|likely benign
NM_000443.4(ABCB4):c.2586A>G (p.Ala862=) single nucleotide variant not specified [RCV000614637] Chr7:87417408 [GRCh38]
Chr7:87046724 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.807C>T (p.Phe269=) single nucleotide variant not specified [RCV000603520] Chr7:87449994 [GRCh38]
Chr7:87079310 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=) single nucleotide variant not provided [RCV000916799]|not specified [RCV000605345] Chr7:87406438 [GRCh38]
Chr7:87035754 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.3280-24T>C single nucleotide variant not specified [RCV000599714] Chr7:87406518 [GRCh38]
Chr7:87035834 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1006-1G>T single nucleotide variant not provided [RCV000596499] Chr7:87444976 [GRCh38]
Chr7:87074292 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1356+10A>G single nucleotide variant not provided [RCV000597591] Chr7:87443309 [GRCh38]
Chr7:87072625 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3227G>A (p.Ser1076Asn) single nucleotide variant not provided [RCV000595531] Chr7:87408089 [GRCh38]
Chr7:87037405 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1060A>G (p.Ile354Val) single nucleotide variant not provided [RCV000597788] Chr7:87444921 [GRCh38]
Chr7:87074237 [GRCh37]
Chr7:7q21.12		 uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003936]|Low phospholipid associated cholelithiasis [RCV000714671]|Progressive familial intrahepatic cholestasis type 3 [RCV000714670]|not provided [RCV000728119] Chr7:87408180 [GRCh38]
Chr7:87037496 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) duplication Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003933] Chr7:87406339..87406340 [GRCh38]
Chr7:87035655..87035656 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003935] Chr7:87408092 [GRCh38]
Chr7:87037408 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003938] Chr7:87417438 [GRCh38]
Chr7:87046754 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003939]|not specified [RCV001553602] Chr7:87431496 [GRCh38]
Chr7:87060812 [GRCh37]
Chr7:7q21.12		 likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) duplication Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003944]|not provided [RCV001784546] Chr7:87444965..87444966 [GRCh38]
Chr7:87074281..87074282 [GRCh37]
Chr7:7q21.12		 pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1006-117del deletion not provided [RCV001567207] Chr7:87445092 [GRCh38]
Chr7:87074408 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) deletion Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003562] Chr7:87451679 [GRCh38]
Chr7:87080995 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.2044del (p.Asp682fs) deletion Cholestasis, intrahepatic, of pregnancy, 3 [RCV000754567] Chr7:87426770 [GRCh38]
Chr7:87056086 [GRCh37]
Chr7:7q21.12		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000443.4(ABCB4):c.3634-72T>C single nucleotide variant not provided [RCV001541285] Chr7:87402374 [GRCh38]
Chr7:87031690 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2683-197T>C single nucleotide variant not provided [RCV001644416] Chr7:87413914 [GRCh38]
Chr7:87043230 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2211+72T>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001548906]|Progressive familial intrahepatic cholestasis type 3 [RCV001548907]|not provided [RCV001638156] Chr7:87423834 [GRCh38]
Chr7:87053150 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) single nucleotide variant not provided [RCV001703399] Chr7:87431404 [GRCh38]
Chr7:87060720 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
Single allele single nucleotide variant not provided [RCV001648600] Chr7:87475843 [GRCh38]
Chr7:87105159 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.135+239T>A single nucleotide variant not provided [RCV001679915] Chr7:87472382 [GRCh38]
Chr7:87101698 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.136-152T>C single nucleotide variant not provided [RCV001669418] Chr7:87463060 [GRCh38]
Chr7:87092376 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1005+98A>G single nucleotide variant not provided [RCV001581690] Chr7:87446936 [GRCh38]
Chr7:87076252 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987915] Chr7:87443683 [GRCh38]
Chr7:87072999 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.344+4A>G single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987919] Chr7:87454531 [GRCh38]
Chr7:87083847 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2065-243C>G single nucleotide variant not provided [RCV001709343] Chr7:87424295 [GRCh38]
Chr7:87053611 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987911] Chr7:87439684 [GRCh38]
Chr7:87069000 [GRCh37]
Chr7:7q21.12		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001164834]|Progressive familial intrahepatic cholestasis type 3 [RCV001164833] Chr7:87403180 [GRCh38]
Chr7:87032496 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs) deletion Progressive familial intrahepatic cholestasis type 3 [RCV000790393] Chr7:87409240 [GRCh38]
Chr7:87038556 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1119+5G>A single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987916] Chr7:87444857 [GRCh38]
Chr7:87074173 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001159921]|Progressive familial intrahepatic cholestasis type 3 [RCV001164835] Chr7:87403215 [GRCh38]
Chr7:87032531 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2784-12T>C single nucleotide variant Progressive familial intrahepatic cholestasis [RCV002282417]|Progressive familial intrahepatic cholestasis type 1 [RCV000987906]|not provided [RCV002286794] Chr7:87412045 [GRCh38]
Chr7:87041361 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.1357-40A>G single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001548910]|Progressive familial intrahepatic cholestasis type 3 [RCV001548911]|not provided [RCV001713020] Chr7:87440442 [GRCh38]
Chr7:87069758 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003564] Chr7:87453031 [GRCh38]
Chr7:87082347 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001163094]|Progressive familial intrahepatic cholestasis type 3 [RCV001161569] Chr7:87443398 [GRCh38]
Chr7:87072714 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter) single nucleotide variant Familial intrahepatic cholestasis type 3 [RCV001250141]|Progressive familial intrahepatic cholestasis type 3 [RCV002051928]|not provided [RCV002570416] Chr7:87431514 [GRCh38]
Chr7:87060830 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter) single nucleotide variant Familial intrahepatic cholestasis type 3 [RCV001250142] Chr7:87447165 [GRCh38]
Chr7:87076481 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987910] Chr7:87431552 [GRCh38]
Chr7:87060868 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001198580] Chr7:87423956 [GRCh38]
Chr7:87053272 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001164831]|Progressive familial intrahepatic cholestasis type 3 [RCV001164832] Chr7:87402241 [GRCh38]
Chr7:87031557 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp) single nucleotide variant not provided [RCV001090896] Chr7:87443392 [GRCh38]
Chr7:87072708 [GRCh37]
Chr7:7q21.12		 likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=) single nucleotide variant not provided [RCV001090895] Chr7:87420052 [GRCh38]
Chr7:87049368 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001165180]|Progressive familial intrahepatic cholestasis type 3 [RCV001165179]|not provided [RCV001859059] Chr7:87451634 [GRCh38]
Chr7:87080950 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001159928]|Progressive familial intrahepatic cholestasis type 3 [RCV001161325] Chr7:87406365 [GRCh38]
Chr7:87035681 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161448]|Progressive familial intrahepatic cholestasis type 3 [RCV001331236]|not provided [RCV002032491]|not specified [RCV002265956] Chr7:87420068 [GRCh38]
Chr7:87049384 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.2317-192G>C single nucleotide variant not provided [RCV001638602] Chr7:87420267 [GRCh38]
Chr7:87049583 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.136-74C>T single nucleotide variant not provided [RCV001554948] Chr7:87462982 [GRCh38]
Chr7:87092298 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.537-239T>C single nucleotide variant not provided [RCV001686872] Chr7:87452033 [GRCh38]
Chr7:87081349 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2064+55A>G single nucleotide variant not provided [RCV001660743] Chr7:87426695 [GRCh38]
Chr7:87056011 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2478+265A>G single nucleotide variant not provided [RCV001679827] Chr7:87418272 [GRCh38]
Chr7:87047588 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2479-208G>A single nucleotide variant not provided [RCV001665464] Chr7:87417723 [GRCh38]
Chr7:87047039 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2394+201del deletion not provided [RCV001707405] Chr7:87419797 [GRCh38]
Chr7:87049113 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.344+113A>G single nucleotide variant not provided [RCV001716163] Chr7:87454422 [GRCh38]
Chr7:87083738 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1006-128A>G single nucleotide variant not provided [RCV001671789] Chr7:87445103 [GRCh38]
Chr7:87074419 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.834-66G>T single nucleotide variant not provided [RCV001684964] Chr7:87447271 [GRCh38]
Chr7:87076587 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1894-26_1894-25insACAA insertion not provided [RCV001709407] Chr7:87426945..87426946 [GRCh38]
Chr7:87056261..87056262 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3082-119C>T single nucleotide variant not provided [RCV001718100] Chr7:87408353 [GRCh38]
Chr7:87037669 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3634-191T>C single nucleotide variant not provided [RCV001616171] Chr7:87402493 [GRCh38]
Chr7:87031809 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2784-208T>C single nucleotide variant not provided [RCV001618748] Chr7:87412241 [GRCh38]
Chr7:87041557 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3280-93_3280-91dup duplication not provided [RCV001594670] Chr7:87406584..87406585 [GRCh38]
Chr7:87035900..87035901 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2394+201_2394+202del deletion not provided [RCV001674868] Chr7:87419796..87419797 [GRCh38]
Chr7:87049112..87049113 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2479-66del deletion not provided [RCV001714290] Chr7:87417581 [GRCh38]
Chr7:87046897 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.12G>T (p.Glu4Asp) single nucleotide variant not provided [RCV000979245] Chr7:87475454 [GRCh38]
Chr7:87104770 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1005+3A>G single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001163097]|Progressive familial intrahepatic cholestasis type 3 [RCV001163098] Chr7:87447031 [GRCh38]
Chr7:87076347 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001159924]|Progressive familial intrahepatic cholestasis type 3 [RCV001159925] Chr7:87403264 [GRCh38]
Chr7:87032580 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2478+7A>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001160032]|Progressive familial intrahepatic cholestasis type 3 [RCV001160033] Chr7:87418530 [GRCh38]
Chr7:87047846 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001160036]|Progressive familial intrahepatic cholestasis type 3 [RCV001161445] Chr7:87420052 [GRCh38]
Chr7:87049368 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) single nucleotide variant Progressive familial intrahepatic cholestasis type 1 [RCV000987914] Chr7:87443353 [GRCh38]
Chr7:87072669 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_021151.4(CROT):c.1433A>G (p.Glu478Gly) single nucleotide variant Inborn genetic diseases [RCV002748708] Chr7:87392573 [GRCh38]
Chr7:87021889 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1732-39A>G single nucleotide variant not provided [RCV001665373] Chr7:87431604 [GRCh38]
Chr7:87060920 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.136-81del deletion not provided [RCV001553180] Chr7:87462989 [GRCh38]
Chr7:87092305 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.212T>A (p.Leu71His) single nucleotide variant not specified [RCV002469979] Chr7:87462832 [GRCh38]
Chr7:87092148 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1005+206G>A single nucleotide variant not provided [RCV001636443] Chr7:87446828 [GRCh38]
Chr7:87076144 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1894-60AC[22] microsatellite not provided [RCV001717028] Chr7:87426944..87426945 [GRCh38]
Chr7:87056260..87056261 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.344+274A>C single nucleotide variant not provided [RCV001657603] Chr7:87454261 [GRCh38]
Chr7:87083577 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2682+158T>C single nucleotide variant not provided [RCV001660921] Chr7:87417154 [GRCh38]
Chr7:87046470 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1231-81del deletion not provided [RCV001619120] Chr7:87443525 [GRCh38]
Chr7:87072841 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.286+130T>C single nucleotide variant not provided [RCV001597389] Chr7:87462628 [GRCh38]
Chr7:87091944 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2064+140A>G single nucleotide variant not provided [RCV001616304] Chr7:87426610 [GRCh38]
Chr7:87055926 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2924+65T>A single nucleotide variant not provided [RCV001717110] Chr7:87411828 [GRCh38]
Chr7:87041144 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1560+164A>C single nucleotide variant not provided [RCV001596294] Chr7:87440035 [GRCh38]
Chr7:87069351 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.536+218T>C single nucleotide variant not provided [RCV001637691] Chr7:87452726 [GRCh38]
Chr7:87082042 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.81-260G>A single nucleotide variant not provided [RCV001637585] Chr7:87472935 [GRCh38]
Chr7:87102251 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1894-60AC[19] microsatellite not provided [RCV001718535] Chr7:87426944..87426945 [GRCh38]
Chr7:87056260..87056261 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2925-154G>T single nucleotide variant not provided [RCV001676330] Chr7:87409546 [GRCh38]
Chr7:87038862 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3279+195C>G single nucleotide variant not provided [RCV001638302] Chr7:87407842 [GRCh38]
Chr7:87037158 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.833+215A>G single nucleotide variant not provided [RCV001608533] Chr7:87449753 [GRCh38]
Chr7:87079069 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161449]|Progressive familial intrahepatic cholestasis type 3 [RCV001161450]|not provided [RCV001298463] Chr7:87422195 [GRCh38]
Chr7:87051511 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161451] Chr7:87422225 [GRCh38]
Chr7:87051541 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161675]|Progressive familial intrahepatic cholestasis type 3 [RCV001161676] Chr7:87462897 [GRCh38]
Chr7:87092213 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003559] Chr7:87447134 [GRCh38]
Chr7:87076450 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001162880]|Progressive familial intrahepatic cholestasis type 3 [RCV001162881] Chr7:87408172 [GRCh38]
Chr7:87037488 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001163095]|Progressive familial intrahepatic cholestasis type 3 [RCV001163096]|not provided [RCV001859050]|not specified [RCV001553603] Chr7:87444926 [GRCh38]
Chr7:87074242 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001165178]|Progressive familial intrahepatic cholestasis type 3 [RCV001163099] Chr7:87449996 [GRCh38]
Chr7:87079312 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001158468]|Progressive familial intrahepatic cholestasis type 3 [RCV001158469] Chr7:87452969 [GRCh38]
Chr7:87082285 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.893del (p.Asn298fs) deletion Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003560] Chr7:87447146 [GRCh38]
Chr7:87076462 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.1357-2A>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003942] Chr7:87440404 [GRCh38]
Chr7:87069720 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161328]|Progressive familial intrahepatic cholestasis type 3 [RCV001161329] Chr7:87406466 [GRCh38]
Chr7:87035782 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161568]|Progressive familial intrahepatic cholestasis type 3 [RCV001161567]|not provided [RCV002071003] Chr7:87443394 [GRCh38]
Chr7:87072710 [GRCh37]
Chr7:7q21.12		 likely benign|uncertain significance
NM_000443.4(ABCB4):c.136-314C>T single nucleotide variant not provided [RCV001709336] Chr7:87463222 [GRCh38]
Chr7:87092538 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1119+1G>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003943] Chr7:87444861 [GRCh38]
Chr7:87074177 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.1357-162A>G single nucleotide variant not provided [RCV001609577] Chr7:87440564 [GRCh38]
Chr7:87069880 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1893+278G>A single nucleotide variant not provided [RCV001684243] Chr7:87431126 [GRCh38]
Chr7:87060442 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.135+171A>G single nucleotide variant not provided [RCV001615929] Chr7:87472450 [GRCh38]
Chr7:87101766 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3634-228A>C single nucleotide variant not provided [RCV001686036] Chr7:87402530 [GRCh38]
Chr7:87031846 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2394+201G>T single nucleotide variant not provided [RCV001708252] Chr7:87419797 [GRCh38]
Chr7:87049113 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2394+195G>T single nucleotide variant not provided [RCV001681151] Chr7:87419803 [GRCh38]
Chr7:87049119 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1894-60AC[21] microsatellite not provided [RCV001714287] Chr7:87426944..87426945 [GRCh38]
Chr7:87056260..87056261 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2064+131A>G single nucleotide variant not provided [RCV001714346] Chr7:87426619 [GRCh38]
Chr7:87055935 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.286+248A>G single nucleotide variant not provided [RCV001709057] Chr7:87462510 [GRCh38]
Chr7:87091826 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1356+130G>T single nucleotide variant not provided [RCV001649464] Chr7:87443189 [GRCh38]
Chr7:87072505 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.135+257A>G single nucleotide variant not provided [RCV001669676] Chr7:87472364 [GRCh38]
Chr7:87101680 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2064+210del deletion not provided [RCV001540534] Chr7:87426540 [GRCh38]
Chr7:87055856 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.537-160G>A single nucleotide variant not provided [RCV001710368] Chr7:87451954 [GRCh38]
Chr7:87081270 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.834-1G>A single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003561] Chr7:87447206 [GRCh38]
Chr7:87076522 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.1231-70A>G single nucleotide variant not provided [RCV001725657] Chr7:87443514 [GRCh38]
Chr7:87072830 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003931] Chr7:87403233 [GRCh38]
Chr7:87032549 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001164955]|Progressive familial intrahepatic cholestasis type 3 [RCV001164954] Chr7:87417403 [GRCh38]
Chr7:87046719 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001160031]|Progressive familial intrahepatic cholestasis type 3 [RCV001164956] Chr7:87417404 [GRCh38]
Chr7:87046720 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs) microsatellite Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003937] Chr7:87411934..87411935 [GRCh38]
Chr7:87041250..87041251 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001003940] Chr7:87431519 [GRCh38]
Chr7:87060835 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy, 3 [RCV001161678]|Progressive familial intrahepatic cholestasis type 3 [RCV001161677] Chr7:87472647 [GRCh38]
Chr7:87101963 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.833+181A>T single nucleotide variant not provided [RCV001641184] Chr7:87449787 [GRCh38]
Chr7:87079103 [GRCh37]
Chr7:7q21.12		 benign
GRCh37/hg19 7q21.12(chr7:86907024-87154688)x1 copy number loss not provided [RCV001258805] Chr7:86907024..87154688 [GRCh37]
Chr7:7q21.12		 likely pathogenic
GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3 copy number gain not provided [RCV001258806] Chr7:86833114..87553208 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV001261587] Chr7:87413708 [GRCh38]
Chr7:87043024 [GRCh37]
Chr7:7q21.12		 pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met) single nucleotide variant not provided [RCV001355572] Chr7:87402172 [GRCh38]
Chr7:87031488 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV001329896] Chr7:87443759 [GRCh38]
Chr7:87073075 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1910T>A (p.Ile637Asn) single nucleotide variant not provided [RCV001356027] Chr7:87426904 [GRCh38]
Chr7:87056220 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3280-295C>T single nucleotide variant not provided [RCV001708967] Chr7:87406789 [GRCh38]
Chr7:87036105 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1894-60AC[20] microsatellite not provided [RCV001715688] Chr7:87426944..87426945 [GRCh38]
Chr7:87056260..87056261 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.1894-60AC[14] microsatellite not provided [RCV001716148] Chr7:87426945..87426952 [GRCh38]
Chr7:87056261..87056268 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2478+40A>G single nucleotide variant not provided [RCV001717006] Chr7:87418497 [GRCh38]
Chr7:87047813 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.3633+200C>A single nucleotide variant not provided [RCV001715299] Chr7:87402935 [GRCh38]
Chr7:87032251 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.708+241A>G single nucleotide variant not provided [RCV001686538] Chr7:87451382 [GRCh38]
Chr7:87080698 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.287-61C>T single nucleotide variant not provided [RCV001649258] Chr7:87454653 [GRCh38]
Chr7:87083969 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.709-194C>G single nucleotide variant not provided [RCV001616226] Chr7:87450286 [GRCh38]
Chr7:87079602 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2394+185dup duplication not provided [RCV001689428] Chr7:87419803..87419804 [GRCh38]
Chr7:87049119..87049120 [GRCh37]
Chr7:7q21.12		 benign
NM_000443.4(ABCB4):c.2878G>A (p.Ala960Thr) single nucleotide variant not provided [RCV001727407] Chr7:87411939 [GRCh38]
Chr7:87041255 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) single nucleotide variant Low phospholipid associated cholelithiasis [RCV002249217] Chr7:87431553 [GRCh38]
Chr7:87060869 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn) single nucleotide variant not specified [RCV002238569] Chr7:87406407 [GRCh38]
Chr7:87035723 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.80+114G>C single nucleotide variant not provided [RCV002244581] Chr7:87475272 [GRCh38]
Chr7:87104588 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1356+26A>G single nucleotide variant not provided [RCV001732886] Chr7:87443293 [GRCh38]
Chr7:87072609 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.122G>C (p.Gly41Ala) single nucleotide variant not provided [RCV001763985] Chr7:87472634 [GRCh38]
Chr7:87101950 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.345-65GAAAA[3] microsatellite not provided [RCV001779911] Chr7:87453181..87453185 [GRCh38]
Chr7:87082497..87082501 [GRCh37]
Chr7:7q21.12		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000443.4(ABCB4):c.2924+92del deletion not provided [RCV001800093] Chr7:87411801 [GRCh38]
Chr7:87041117 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.3633+84A>G single nucleotide variant not provided [RCV001786883] Chr7:87403051 [GRCh38]
Chr7:87032367 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.2858C>A (p.Ala953Asp) single nucleotide variant not provided [RCV001815963] Chr7:87411959 [GRCh38]
Chr7:87041275 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.2422A>G (p.Asn808Asp) single nucleotide variant Low phospholipid associated cholelithiasis [RCV001809226] Chr7:87418593 [GRCh38]
Chr7:87047909 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser) single nucleotide variant not provided [RCV001816466] Chr7:87408059 [GRCh38]
Chr7:87037375 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.997G>A (p.Ala333Thr) single nucleotide variant not provided [RCV002021646] Chr7:87447042 [GRCh38]
Chr7:87076358 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3671G>A (p.Arg1224His) single nucleotide variant Inborn genetic diseases [RCV002553631]|not provided [RCV001896330] Chr7:87402265 [GRCh38]
Chr7:87031581 [GRCh37]
Chr7:7q21.12		 uncertain significance
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3		 pathogenic
NM_000443.4(ABCB4):c.1592C>T (p.Ala531Val) single nucleotide variant not provided [RCV001961763] Chr7:87439806 [GRCh38]
Chr7:87069122 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val) single nucleotide variant not provided [RCV001962424]|not specified [RCV002469433] Chr7:87447182 [GRCh38]
Chr7:87076498 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln) single nucleotide variant not provided [RCV001887346]|not specified [RCV002307787] Chr7:87443676 [GRCh38]
Chr7:87072992 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2260T>C (p.Phe754Leu) single nucleotide variant not provided [RCV001877397] Chr7:87422177 [GRCh38]
Chr7:87051493 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2653_2654del (p.Arg884_Asp885insTer) microsatellite not provided [RCV001972047] Chr7:87417340..87417341 [GRCh38]
Chr7:87046656..87046657 [GRCh37]
Chr7:7q21.12		 pathogenic
NC_000007.13:g.(?_87072615)_(87076541_?)del deletion not provided [RCV001956270] Chr7:87072615..87076541 [GRCh37]
Chr7:7q21.12		 pathogenic
NC_000007.13:g.(?_87042913)_(87043053_?)del deletion not provided [RCV001939632] Chr7:87042913..87043053 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_021151.4(CROT):c.1063-8A>G single nucleotide variant not provided [RCV000894856] Chr7:87382066 [GRCh38]
Chr7:87011382 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.3659C>A (p.Ala1220Asp) single nucleotide variant not specified [RCV002246929] Chr7:87402277 [GRCh38]
Chr7:87031593 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) single nucleotide variant not provided [RCV002214436] Chr7:87443742 [GRCh38]
Chr7:87073058 [GRCh37]
Chr7:7q21.12		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.709-5T>A single nucleotide variant not provided [RCV002197578] Chr7:87450097 [GRCh38]
Chr7:87079413 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1366G>T (p.Asp456Tyr) single nucleotide variant not provided [RCV002214435] Chr7:87440393 [GRCh38]
Chr7:87069709 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1560+1G>A single nucleotide variant not provided [RCV002214434] Chr7:87440198 [GRCh38]
Chr7:87069514 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_000443.4(ABCB4):c.838C>T (p.Gln280Ter) single nucleotide variant not provided [RCV002214437] Chr7:87447201 [GRCh38]
Chr7:87076517 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.3082-179C>G single nucleotide variant not provided [RCV002221772]   likely benign
NM_000443.4(ABCB4):c.3280-8G>T single nucleotide variant not specified [RCV002222994] Chr7:87406502 [GRCh38]
Chr7:87035818 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2682+1G>A single nucleotide variant Low phospholipid associated cholelithiasis [RCV002249216] Chr7:87417311 [GRCh38]
Chr7:87046627 [GRCh37]
Chr7:7q21.12		 pathogenic
NC_000007.13:g.(?_87092054)_(87092244_?)del deletion not provided [RCV003111241] Chr7:87092054..87092244 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter) single nucleotide variant Low phospholipid associated cholelithiasis [RCV002249218] Chr7:87447055 [GRCh38]
Chr7:87076371 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV002250975] Chr7:87443683 [GRCh38]
Chr7:87072999 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg) single nucleotide variant Progressive familial intrahepatic cholestasis [RCV002271737]|not provided [RCV002511147] Chr7:87449993 [GRCh38]
Chr7:87079309 [GRCh37]
Chr7:7q21.12		 likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly) single nucleotide variant Progressive familial intrahepatic cholestasis type 3 [RCV002251031] Chr7:87413618 [GRCh38]
Chr7:87042934 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3692A>G (p.His1231Arg) single nucleotide variant not provided [RCV002263443] Chr7:87402244 [GRCh38]
Chr7:87031560 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2294C>A (p.Ser765Tyr) single nucleotide variant not provided [RCV002261824] Chr7:87422143 [GRCh38]
Chr7:87051459 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1560+6G>A single nucleotide variant not provided [RCV002261825] Chr7:87440193 [GRCh38]
Chr7:87069509 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3544A>T (p.Arg1182Trp) single nucleotide variant not provided [RCV002261823] Chr7:87403224 [GRCh38]
Chr7:87032540 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.620T>C (p.Ile207Thr) single nucleotide variant not provided [RCV002263444] Chr7:87451711 [GRCh38]
Chr7:87081027 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2000C>T (p.Thr667Ile) single nucleotide variant not specified [RCV002266279] Chr7:87426814 [GRCh38]
Chr7:87056130 [GRCh37]
Chr7:7q21.12		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_000443.4(ABCB4):c.135+3688_135+3689insTTTATTTATTTTATTTTATTTTATATTATTTTTATCTTAT microsatellite Schizophrenia [RCV002463548] Chr7:87468932..87468933 [GRCh38]
Chr7:87098248..87098249 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.875A>G (p.Lys292Arg) single nucleotide variant not provided [RCV002308795] Chr7:87447164 [GRCh38]
Chr7:87076480 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1442T>G (p.Leu481Arg) single nucleotide variant not provided [RCV002306177] Chr7:87440317 [GRCh38]
Chr7:87069633 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3041A>G (p.Gln1014Arg) single nucleotide variant Inborn genetic diseases [RCV002840180] Chr7:87409276 [GRCh38]
Chr7:87038592 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.3215G>T (p.Gly1072Val) single nucleotide variant not provided [RCV002843648] Chr7:87408101 [GRCh38]
Chr7:87037417 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1237A>G (p.Lys413Glu) single nucleotide variant not provided [RCV002819592] Chr7:87443438 [GRCh38]
Chr7:87072754 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2287A>T (p.Ile763Phe) single nucleotide variant Inborn genetic diseases [RCV002794479] Chr7:87422150 [GRCh38]
Chr7:87051466 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1650C>A (p.Asn550Lys) single nucleotide variant not provided [RCV002816072] Chr7:87439748 [GRCh38]
Chr7:87069064 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.849A>G (p.Leu283_Glu284=) single nucleotide variant not provided [RCV002615259] Chr7:87447190 [GRCh38]
Chr7:87076506 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.2534G>T (p.Gly845Val) single nucleotide variant not provided [RCV003033417] Chr7:87417460 [GRCh38]
Chr7:87046776 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1739A>G (p.Glu580Gly) single nucleotide variant Inborn genetic diseases [RCV002863925] Chr7:87431558 [GRCh38]
Chr7:87060874 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2227G>A (p.Asp743Asn) single nucleotide variant Inborn genetic diseases [RCV002753446] Chr7:87422210 [GRCh38]
Chr7:87051526 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1352G>A (p.Arg451His) single nucleotide variant Inborn genetic diseases [RCV002773883] Chr7:87391639 [GRCh38]
Chr7:87020955 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1112T>C (p.Ile371Thr) single nucleotide variant Inborn genetic diseases [RCV002753582] Chr7:87382123 [GRCh38]
Chr7:87011439 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.3680T>G (p.Ile1227Ser) single nucleotide variant not provided [RCV002819780] Chr7:87402256 [GRCh38]
Chr7:87031572 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1359G>C (p.Glu453Asp) single nucleotide variant Inborn genetic diseases [RCV002901271] Chr7:87391646 [GRCh38]
Chr7:87020962 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1240C>A (p.Leu414Ile) single nucleotide variant Inborn genetic diseases [RCV002784420] Chr7:87382482 [GRCh38]
Chr7:87011798 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.920G>A (p.Gly307Asp) single nucleotide variant Inborn genetic diseases [RCV002783563] Chr7:87377392 [GRCh38]
Chr7:87006708 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1792G>A (p.Asp598Asn) single nucleotide variant not provided [RCV002639169] Chr7:87431505 [GRCh38]
Chr7:87060821 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser) single nucleotide variant not provided [RCV003037234] Chr7:87411957 [GRCh38]
Chr7:87041273 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.328GAA[2] (p.Glu112del) microsatellite Inborn genetic diseases [RCV002887519] Chr7:87454543..87454545 [GRCh38]
Chr7:87083859..87083861 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.690T>G (p.Ser230_Ala231=) single nucleotide variant not provided [RCV002569557] Chr7:87451641 [GRCh38]
Chr7:87080957 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.537-16G>A single nucleotide variant not provided [RCV002805878] Chr7:87451810 [GRCh38]
Chr7:87081126 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.1029A>G (p.Gly343_Ala344=) single nucleotide variant not provided [RCV002872197] Chr7:87444952 [GRCh38]
Chr7:87074268 [GRCh37]
Chr7:7q21.12		 likely benign
NM_021151.4(CROT):c.712G>A (p.Ala238Thr) single nucleotide variant Inborn genetic diseases [RCV003004150] Chr7:87375687 [GRCh38]
Chr7:87005003 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2887A>G (p.Ile963Val) single nucleotide variant not provided [RCV003082709] Chr7:87411930 [GRCh38]
Chr7:87041246 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1206T>A (p.Ser402_Tyr403=) single nucleotide variant not provided [RCV003005430] Chr7:87443687 [GRCh38]
Chr7:87073003 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.2994T>C (p.Ala998_Lys999=) single nucleotide variant not provided [RCV002596334] Chr7:87409323 [GRCh38]
Chr7:87038639 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs) duplication not provided [RCV003083388] Chr7:87406403..87406404 [GRCh38]
Chr7:87035719..87035720 [GRCh37]
Chr7:7q21.12		 pathogenic
NM_021151.4(CROT):c.815G>A (p.Ser272Asn) single nucleotide variant Inborn genetic diseases [RCV002826076] Chr7:87375892 [GRCh38]
Chr7:87005208 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1378G>C (p.Val460Leu) single nucleotide variant Inborn genetic diseases [RCV002985062] Chr7:87391665 [GRCh38]
Chr7:87020981 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1636G>T (p.Val546Phe) single nucleotide variant Inborn genetic diseases [RCV002930933] Chr7:87392985 [GRCh38]
Chr7:87022301 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.640C>A (p.Pro214Thr) single nucleotide variant Inborn genetic diseases [RCV002803881] Chr7:87369468 [GRCh38]
Chr7:86998784 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1357-1G>A single nucleotide variant not provided [RCV003030206] Chr7:87440403 [GRCh38]
Chr7:87069719 [GRCh37]
Chr7:7q21.12		 likely pathogenic
NM_021151.4(CROT):c.776A>C (p.Asp259Ala) single nucleotide variant Inborn genetic diseases [RCV002934532] Chr7:87375853 [GRCh38]
Chr7:87005169 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_021151.4(CROT):c.1021T>C (p.Tyr341His) single nucleotide variant Inborn genetic diseases [RCV002935864] Chr7:87381952 [GRCh38]
Chr7:87011268 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2413G>A (p.Asp805Asn) single nucleotide variant not provided [RCV002671571] Chr7:87418602 [GRCh38]
Chr7:87047918 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.2823T>C (p.Phe941_Ser942=) single nucleotide variant not provided [RCV003087209] Chr7:87411994 [GRCh38]
Chr7:87041310 [GRCh37]
Chr7:7q21.12		 likely benign
NM_021151.4(CROT):c.1037T>G (p.Ile346Ser) single nucleotide variant Inborn genetic diseases [RCV002835755] Chr7:87381968 [GRCh38]
Chr7:87011284 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_000443.4(ABCB4):c.1120-11del deletion not provided [RCV002598156] Chr7:87443784 [GRCh38]
Chr7:87073100 [GRCh37]
Chr7:7q21.12		 likely benign
NM_000443.4(ABCB4):c.345-12C>T single nucleotide variant not provided [RCV002605422] Chr7:87453147 [GRCh38]
Chr7:87082463 [GRCh37]
Chr7:7q21.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1113
Count of miRNA genes:651
Interacting mature miRNAs:731
Transcripts:ENST00000265723, ENST00000358400, ENST00000359206, ENST00000417608, ENST00000440025, ENST00000453593, ENST00000467079, ENST00000467983, ENST00000469770, ENST00000473795, ENST00000545634
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.

Markers in Region
RH17678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,133,587 - 87,133,768UniSTSGRCh37
GRCh37787,031,440 - 87,031,621UniSTSGRCh37
Build 36786,869,376 - 86,869,557RGDNCBI36
Celera781,838,471 - 81,838,652UniSTS
Celera781,736,318 - 81,736,499RGD
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map7q21.1UniSTS
HuRef781,642,436 - 81,642,617UniSTS
HuRef781,744,590 - 81,744,771UniSTS
CRA_TCAGchr7v2786,465,099 - 86,465,280UniSTS
CRA_TCAGchr7v2786,362,950 - 86,363,131UniSTS
GeneMap99-GB4 RH Map7474.18UniSTS
SHGC-80903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,037,211 - 87,037,521UniSTSGRCh37
Build 36786,875,147 - 86,875,457RGDNCBI36
Celera781,742,089 - 81,742,399RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,648,208 - 81,648,518UniSTS
CRA_TCAGchr7v2786,368,721 - 86,369,031UniSTS
TNG Radiation Hybrid Map737922.0UniSTS
D7S2163E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,068,875 - 87,068,988UniSTSGRCh37
Build 36786,906,811 - 86,906,924RGDNCBI36
Celera781,773,760 - 81,773,873RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,679,879 - 81,679,992UniSTS
CRA_TCAGchr7v2786,400,388 - 86,400,501UniSTS
G20675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,068,842 - 87,069,024UniSTSGRCh37
Build 36786,906,778 - 86,906,960RGDNCBI36
Celera781,773,727 - 81,773,909RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,679,846 - 81,680,028UniSTS
CRA_TCAGchr7v2786,400,355 - 86,400,537UniSTS
A006B20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,068,842 - 87,069,024UniSTSGRCh37
Build 36786,906,778 - 86,906,960RGDNCBI36
Celera781,773,727 - 81,773,909RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,679,846 - 81,680,028UniSTS
CRA_TCAGchr7v2786,400,355 - 86,400,537UniSTS
GeneMap99-GB4 RH Map7484.07UniSTS
PGY3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,031,399 - 87,031,526UniSTSGRCh37
Build 36786,869,335 - 86,869,462RGDNCBI36
Celera781,736,277 - 81,736,404RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,642,395 - 81,642,522UniSTS
CRA_TCAGchr7v2786,362,909 - 86,363,036UniSTS
G20448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,070,619 - 87,070,781UniSTSGRCh37
Build 36786,908,555 - 86,908,717RGDNCBI36
Celera781,775,504 - 81,775,666RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,681,623 - 81,681,785UniSTS
CRA_TCAGchr7v2786,402,132 - 86,402,294UniSTS
A005R35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,070,619 - 87,070,781UniSTSGRCh37
Build 36786,908,555 - 86,908,717RGDNCBI36
Celera781,775,504 - 81,775,666RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,681,623 - 81,681,785UniSTS
CRA_TCAGchr7v2786,402,132 - 86,402,294UniSTS
GeneMap99-GB4 RH Map7475.84UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 3 416 381 131 381 35 1 5 3 4 4
Low 1343 1775 821 136 1010 56 3113 1542 845 193 858 590 84 1 591 2053 4
Below cutoff 1042 1198 480 100 748 21 1198 630 2854 195 539 915 86 612 729 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF034088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF035007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ540315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC505181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265723   ⟹   ENSP00000265723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,049 - 87,475,739 (-)Ensembl
RefSeq Acc Id: ENST00000358400   ⟹   ENSP00000351172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,045 - 87,475,703 (-)Ensembl
RefSeq Acc Id: ENST00000359206   ⟹   ENSP00000352135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,059 - 87,475,848 (-)Ensembl
RefSeq Acc Id: ENST00000417608   ⟹   ENSP00000394511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,462,861 - 87,480,435 (-)Ensembl
RefSeq Acc Id: ENST00000440025   ⟹   ENSP00000395716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,401,697 - 87,403,201 (-)Ensembl
RefSeq Acc Id: ENST00000453593   ⟹   ENSP00000392983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,096 - 87,475,465 (-)Ensembl
RefSeq Acc Id: ENST00000467079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,405,920 - 87,408,234 (-)Ensembl
RefSeq Acc Id: ENST00000467983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,134 - 87,403,379 (-)Ensembl
RefSeq Acc Id: ENST00000469770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,423,575 - 87,431,500 (-)Ensembl
RefSeq Acc Id: ENST00000473795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,452,372 - 87,475,472 (-)Ensembl
RefSeq Acc Id: ENST00000643670   ⟹   ENSP00000496629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,423,849 - 87,475,408 (-)Ensembl
RefSeq Acc Id: ENST00000644106   ⟹   ENSP00000493477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,426,822 - 87,475,658 (-)Ensembl
RefSeq Acc Id: ENST00000649586   ⟹   ENSP00000496956
RefSeq Status:
Type: CODING