ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) - Rat Genome Database

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Gene: ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) Homo sapiens
Analyze
Symbol: ABCB6
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
RGD ID: 731735
HGNC Page HGNC:47
Description: Enables several functions, including ABC-type heme transporter activity; ATP binding activity; and ATP hydrolysis activity. Involved in several processes, including cellular detoxification of cadmium ion; heme transmembrane transport; and melanosome assembly. Located in several cellular components, including Golgi apparatus; bounding membrane of organelle; and extracellular exosome. Implicated in dyschromatosis universalis hereditaria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC; ABC-type heme transporter ABCB6; ABC14; ATP binding cassette subfamily B member 6 (Langereis blood group); ATP-binding cassette half-transporter; ATP-binding cassette sub-family B member 6; ATP-binding cassette sub-family B member 6, mitochondrial; ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group); DUH3; EST45597; FLJ22414; LAN; MCOPCB7; mitochondrial ABC transporter 3; mt-ABC transporter 3; MTABC3; P-glycoprotein-related protein; PRP; PSHK2; truncated ATP binding cassette subfamily b member 6; ubiquitously-expressed mammalian ABC half transporter; umat
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,209,772 - 219,218,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,209,772 - 219,218,994 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,074,494 - 220,083,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,782,738 - 219,791,916 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,899,998 - 219,909,177NCBI
Celera2213,844,200 - 213,853,379 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,927,785 - 211,937,009 (-)NCBIHuRef
CHM1_12220,080,323 - 220,089,548 (-)NCBICHM1_1
T2T-CHM13v2.02219,694,538 - 219,703,724 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
acrylamide  (EXP)
allethrin  (ISO)
amitrole  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
atrazine  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bupropion  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clothianidin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dextran sulfate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
fenvalerate  (ISO)
ferroheme b  (EXP,ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
heme b  (EXP,ISO)
ifosfamide  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
leflunomide  (EXP,ISO)
melatonin  (ISO)
mercury dibromide  (EXP)
metformin  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
midazolam  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-toluidine  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrazinecarboxamide  (ISO)
pyrethrins  (ISO)
reactive oxygen species  (EXP)
rifampicin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
Tungsten carbide  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)
Zoxazolamine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. Mitsuhashi N, etal., J Biol Chem 2000 Jun 9;275(23):17536-40.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8619474   PMID:8894702   PMID:9110174   PMID:9288777   PMID:11955620   PMID:11977179   PMID:12477932   PMID:14702039   PMID:15470366   PMID:15489334   PMID:16791740   PMID:17006453  
PMID:17661442   PMID:18279659   PMID:18624398   PMID:19056867   PMID:19343046   PMID:20823549   PMID:20877624   PMID:21199866   PMID:21849266   PMID:21873635   PMID:21903422   PMID:22100072  
PMID:22226084   PMID:22246506   PMID:22258451   PMID:22655043   PMID:22688660   PMID:22761424   PMID:22939629   PMID:22958180   PMID:23180570   PMID:23483087   PMID:23519333   PMID:23763549  
PMID:23792964   PMID:23793916   PMID:24192121   PMID:24224009   PMID:24456066   PMID:24457600   PMID:24498303   PMID:24947683   PMID:25202056   PMID:25288164   PMID:25360778   PMID:25573285  
PMID:25627919   PMID:26186194   PMID:26496610   PMID:26517908   PMID:26708806   PMID:27151991   PMID:27349731   PMID:27507172   PMID:27756835   PMID:27857072   PMID:28112576   PMID:28514442  
PMID:29507755   PMID:29509794   PMID:29940187   PMID:31053883   PMID:31091453   PMID:31189171   PMID:31527615   PMID:31536960   PMID:32329696   PMID:32707033   PMID:32710948   PMID:33007128  
PMID:33144569   PMID:33961781   PMID:34392362   PMID:34724702   PMID:34800366   PMID:35461746   PMID:35906200   PMID:35944360   PMID:36114006   PMID:36215168   PMID:37314216   PMID:37500176  
PMID:37735522   PMID:38354999   PMID:38822018  


Genomics

Comparative Map Data
ABCB6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,209,772 - 219,218,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,209,772 - 219,218,994 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,074,494 - 220,083,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,782,738 - 219,791,916 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,899,998 - 219,909,177NCBI
Celera2213,844,200 - 213,853,379 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,927,785 - 211,937,009 (-)NCBIHuRef
CHM1_12220,080,323 - 220,089,548 (-)NCBICHM1_1
T2T-CHM13v2.02219,694,538 - 219,703,724 (-)NCBIT2T-CHM13v2.0
Abcb6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,148,284 - 75,157,066 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,148,361 - 75,157,036 (-)EnsemblGRCm39 Ensembl
GRCm38175,171,640 - 75,180,392 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,171,717 - 75,180,392 (-)EnsemblGRCm38mm10GRCm38
MGSCv37175,168,214 - 75,176,857 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,054,787 - 75,063,430 (-)NCBIMGSCv36mm8
Celera175,662,505 - 75,671,146 (-)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.62NCBI
Abcb6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,117,222 - 84,125,939 (-)NCBIGRCr8
mRatBN7.2976,668,554 - 76,677,263 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,668,554 - 76,676,924 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,113,131 - 85,121,409 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,242,022 - 90,250,300 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,628,235 - 88,636,513 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,373,950 - 82,382,228 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,373,946 - 82,382,272 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,143,211 - 82,151,489 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,454,805 - 74,463,083 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera974,239,003 - 74,247,281 (-)NCBICelera
Cytogenetic Map9q33NCBI
Abcb6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,215,408 - 14,222,172 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,215,104 - 14,222,338 (+)NCBIChiLan1.0ChiLan1.0
ABCB6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,840,220 - 121,849,516 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,855,185 - 121,864,481 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,467,345 - 106,476,614 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,058,771 - 225,067,626 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,058,771 - 225,067,626 (-)Ensemblpanpan1.1panPan2
ABCB6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,760,478 - 25,767,753 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,760,477 - 25,769,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,586,363 - 26,593,649 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,775,702 - 25,782,979 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,775,712 - 25,783,009 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,680,124 - 25,687,392 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,615,230 - 25,622,496 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,636,067 - 25,643,357 (-)NCBIUU_Cfam_GSD_1.0
Abcb6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,285,868 - 175,292,790 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,625,374 - 1,635,694 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,628,649 - 1,635,599 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,246,187 - 121,254,331 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,246,180 - 121,254,350 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,280,959 - 134,289,134 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCB6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,113,729 - 105,122,948 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,112,797 - 105,122,358 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,273,392 - 94,282,846 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcb6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,797,943 - 5,808,448 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,797,897 - 5,805,055 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCB6
182 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter) single nucleotide variant Langereis blood group [RCV000023434]|not provided [RCV003542272] Chr2:219216803 [GRCh38]
Chr2:220081525 [GRCh37]
Chr2:2q35		 pathogenic|affects|uncertain significance
NM_005689.4(ABCB6):c.1690_1691del (p.Met564fs) deletion Langereis blood group [RCV000023435] Chr2:219213467..219213468 [GRCh38]
Chr2:220078189..220078190 [GRCh37]
Chr2:2q35		 pathogenic|affects
NM_005689.4(ABCB6):c.1942C>T (p.Arg648Ter) single nucleotide variant Langereis blood group [RCV000023436] Chr2:219212413 [GRCh38]
Chr2:220077135 [GRCh37]
Chr2:2q35		 pathogenic|affects
NM_005689.4(ABCB6):c.1985_1986del (p.Leu662fs) microsatellite Langereis blood group [RCV000023437] Chr2:219211091..219211092 [GRCh38]
Chr2:220075813..220075814 [GRCh37]
Chr2:2q35		 pathogenic|affects
NM_005689.4(ABCB6):c.2256+2T>G single nucleotide variant Langereis blood group [RCV000023438] Chr2:219210709 [GRCh38]
Chr2:220075431 [GRCh37]
Chr2:2q35		 pathogenic|affects
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV000023439] Chr2:219210036 [GRCh38]
Chr2:220074758 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV000023440]|not provided [RCV002513189]|not specified [RCV002247384] Chr2:219218505 [GRCh38]
Chr2:220083227 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_005689.4(ABCB6):c.1385C>T (p.Thr462Met) single nucleotide variant not provided [RCV000520814] Chr2:219214390 [GRCh38]
Chr2:220079112 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1067T>C (p.Leu356Pro) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000054816] Chr2:219216084 [GRCh38]
Chr2:220080806 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.508A>G (p.Ser170Gly) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000054817] Chr2:219218166 [GRCh38]
Chr2:220082888 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000054818] Chr2:219213310 [GRCh38]
Chr2:220078032 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.2(ABCB6):c.1796A>T (p.Tyr599Phe) single nucleotide variant Lung cancer [RCV000091900] Chr2:219213250 [GRCh38]
Chr2:220077972 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_005689.2(ABCB6):c.1254C>T (p.Phe418=) single nucleotide variant Malignant melanoma [RCV000065419] Chr2:219214983 [GRCh38]
Chr2:220079705 [GRCh37]
Chr2:219787949 [NCBI36]
Chr2:2q35		 not provided
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) single nucleotide variant ABCB6-related disorder [RCV003974948]|Acute intermittent porphyria [RCV001731357]|Microphthalmia, isolated, with coloboma 7 [RCV000059344]|Protoporphyria, erythropoietic, 1 [RCV001731356]|Variegate porphyria [RCV001731358]|not provided [RCV001699031] Chr2:219217782 [GRCh38]
Chr2:220082504 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005689.4(ABCB6):c.1766G>A (p.Arg589His) single nucleotide variant not provided [RCV000119781] Chr2:219213280 [GRCh38]
Chr2:220078002 [GRCh37]
Chr2:2q35		 not provided
NM_005689.4(ABCB6):c.369G>A (p.Trp123Ter) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV001292989] Chr2:219218305 [GRCh38]
Chr2:220083027 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) single nucleotide variant Familial pseudohyperkalemia [RCV000202403] Chr2:219216027 [GRCh38]
Chr2:220080749 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) single nucleotide variant Familial pseudohyperkalemia [RCV000202404]|Familial pseudohyperkalemia [RCV002500635] Chr2:219216028 [GRCh38]
Chr2:220080750 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) single nucleotide variant ABCB6-related disorder [RCV004751365]|Familial pseudohyperkalemia [RCV000202405]|not provided [RCV001853258]|not specified [RCV002247627] Chr2:219210799 [GRCh38]
Chr2:220075521 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_005689.4(ABCB6):c.1663C>A (p.Gln555Lys) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000190414] Chr2:219213495 [GRCh38]
Chr2:220078217 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) single nucleotide variant ABCB6-related disorder [RCV004751364]|Acute intermittent porphyria [RCV001731431]|Hereditary coproporphyria [RCV001731433]|Langereis blood group [RCV000201942]|Protoporphyria, erythropoietic, 1 [RCV001731521]|Variegate porphyria [RCV001731432]|not provided [RCV001699005] Chr2:219217783 [GRCh38]
Chr2:220082505 [GRCh37]
Chr2:2q35		 affects|benign|likely benign|uncertain significance
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) single nucleotide variant Acute intermittent porphyria [RCV001731453]|Hereditary coproporphyria [RCV001731454]|Protoporphyria, erythropoietic, 1 [RCV001731534]|Variegate porphyria [RCV001731535]|not provided [RCV000224725] Chr2:219216694 [GRCh38]
Chr2:219216694..219216695 [GRCh38]
Chr2:220081416 [GRCh37]
Chr2:220081416..220081417 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1118_1124del (p.Ala373fs) microsatellite Langereis blood group [RCV000239437] Chr2:219216027..219216033 [GRCh38]
Chr2:220080749..220080755 [GRCh37]
Chr2:2q35		 affects
NM_005689.4(ABCB6):c.1656-1G>A single nucleotide variant Langereis blood group [RCV000239440] Chr2:219213503 [GRCh38]
Chr2:220078225 [GRCh37]
Chr2:2q35		 affects
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) single nucleotide variant Acute intermittent porphyria [RCV001731737]|Hereditary coproporphyria [RCV001731739]|Protoporphyria, erythropoietic, 1 [RCV001731736]|Variegate porphyria [RCV001731738]|not provided [RCV000514468]|not specified [RCV001700138] Chr2:219213842 [GRCh38]
Chr2:220078564 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_005689.4(ABCB6):c.949G>T (p.Gly317Trp) single nucleotide variant Inborn genetic diseases [RCV003257696] Chr2:219216385 [GRCh38]
Chr2:220081107 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.343A>C (p.Ser115Arg) single nucleotide variant Inborn genetic diseases [RCV003287593] Chr2:219218331 [GRCh38]
Chr2:220083053 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2261C>T (p.Thr754Met) single nucleotide variant Inborn genetic diseases [RCV003251546] Chr2:219210471 [GRCh38]
Chr2:220075193 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.2352-25A>G single nucleotide variant not provided [RCV001645437] Chr2:219210323 [GRCh38]
Chr2:220075045 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.117G>A (p.Leu39=) single nucleotide variant not provided [RCV001610892] Chr2:219218557 [GRCh38]
Chr2:220083279 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1083C>G (p.His361Gln) single nucleotide variant not provided [RCV003314833] Chr2:219216068 [GRCh38]
Chr2:220080790 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) single nucleotide variant Acute intermittent porphyria [RCV001731987]|Protoporphyria, erythropoietic, 1 [RCV001731986]|not provided [RCV000948628] Chr2:219216781 [GRCh38]
Chr2:220081503 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1943G>A (p.Arg648Gln) single nucleotide variant not provided [RCV000901777] Chr2:219212412 [GRCh38]
Chr2:220077134 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity
NM_005689.4(ABCB6):c.688-9C>T single nucleotide variant ABCB6-related disorder [RCV003943138]|Familial pseudohyperkalemia [RCV002503025]|not provided [RCV000964890] Chr2:219216841 [GRCh38]
Chr2:220081563 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_005689.4(ABCB6):c.1273C>G (p.Leu425Val) single nucleotide variant ABCB6-related disorder [RCV003923295]|not provided [RCV000922882] Chr2:219214964 [GRCh38]
Chr2:220079686 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.2415G>A (p.Arg805=) single nucleotide variant not provided [RCV000916292] Chr2:219210235 [GRCh38]
Chr2:220074957 [GRCh37]
Chr2:2q35		 likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2449G>T (p.Val817Leu) single nucleotide variant Inborn genetic diseases [RCV003272004] Chr2:219210018 [GRCh38]
Chr2:220074740 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.-260G>A single nucleotide variant not provided [RCV001652524] Chr2:219218933 [GRCh38]
Chr2:220083655 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1864-192C>T single nucleotide variant not provided [RCV001620712] Chr2:219212683 [GRCh38]
Chr2:220077405 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.219209720T>C single nucleotide variant not provided [RCV001685634] Chr2:219209720 [GRCh38]
Chr2:220074442 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.-58C>A single nucleotide variant not provided [RCV001609855] Chr2:219218731 [GRCh38]
Chr2:220083453 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) single nucleotide variant Familial pseudohyperkalemia [RCV001691949]|not provided [RCV003438867] Chr2:219213893 [GRCh38]
Chr2:220078615 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) single nucleotide variant ABCB6-related disorder [RCV003970713]|Familial pseudohyperkalemia [RCV002489302]|not provided [RCV000950647] Chr2:219214414 [GRCh38]
Chr2:220079136 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005689.4(ABCB6):c.2421-79C>T single nucleotide variant not provided [RCV001720487] Chr2:219210125 [GRCh38]
Chr2:220074847 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.2059G>A (p.Gly687Ser) single nucleotide variant not provided [RCV003106752] Chr2:219211018 [GRCh38]
Chr2:220075740 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.1578+52A>G single nucleotide variant not provided [RCV001688022] Chr2:219213774 [GRCh38]
Chr2:220078496 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) single nucleotide variant Acute intermittent porphyria [RCV001732228]|Hereditary coproporphyria [RCV001732230]|Protoporphyria, erythropoietic, 1 [RCV001732227]|Variegate porphyria [RCV001732229]|not provided [RCV001700536] Chr2:219213284 [GRCh38]
Chr2:220078006 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005689.4(ABCB6):c.550-129dup duplication not provided [RCV001655005] Chr2:219217920..219217921 [GRCh38]
Chr2:220082642..220082643 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.219219092A>G single nucleotide variant not provided [RCV001656094] Chr2:219219092 [GRCh38]
Chr2:220083814 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.687+26del deletion not provided [RCV001715976] Chr2:219217644 [GRCh38]
Chr2:220082366 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV001171505] Chr2:219211077 [GRCh38]
Chr2:220075799 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.687+302T>C single nucleotide variant not provided [RCV001670250] Chr2:219217368 [GRCh38]
Chr2:220082090 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.2421-25A>T single nucleotide variant not provided [RCV001641603] Chr2:219210071 [GRCh38]
Chr2:220074793 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219797684-220088582)x3 copy number gain not provided [RCV001259184] Chr2:219797684..220088582 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1663C>T (p.Gln555Ter) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV001336858] Chr2:219213495 [GRCh38]
Chr2:220078217 [GRCh37]
Chr2:2q35		 pathogenic
NM_005689.4(ABCB6):c.376del (p.Val126fs) deletion ABCB6-related disorder [RCV003981052]|not provided [RCV003699894] Chr2:219218298 [GRCh38]
Chr2:220083020 [GRCh37]
Chr2:2q35		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005689.4(ABCB6):c.2215C>T (p.Arg739Cys) single nucleotide variant ABCB6-related disorder [RCV003393945]|Microphthalmia, isolated, with coloboma 7 [RCV004762050]|not provided [RCV001812426] Chr2:219210752 [GRCh38]
Chr2:220075474 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NM_005689.4(ABCB6):c.459del (p.Trp154fs) deletion not specified [RCV002246930] Chr2:219218215 [GRCh38]
Chr2:220082937 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
NM_005689.4(ABCB6):c.687+16dup duplication not provided [RCV001691465] Chr2:219217643..219217644 [GRCh38]
Chr2:220082365..220082366 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) single nucleotide variant ABCB6-related disorder [RCV003921264]|Acute intermittent porphyria [RCV001732221]|Protoporphyria, erythropoietic, 1 [RCV001732220]|not provided [RCV001611676] Chr2:219216123 [GRCh38]
Chr2:220080845 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.549+72C>G single nucleotide variant not provided [RCV001687733] Chr2:219218053 [GRCh38]
Chr2:220082775 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1651T>G (p.Tyr551Asp) single nucleotide variant Inborn genetic diseases [RCV004040067]|not provided [RCV001757868] Chr2:219213594 [GRCh38]
Chr2:220078316 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) single nucleotide variant ABCB6-related disorder [RCV003913358]|Acute intermittent porphyria [RCV001733861]|Hereditary coproporphyria [RCV001733863]|Protoporphyria, erythropoietic, 1 [RCV001733860]|Variegate porphyria [RCV001733862]|not provided [RCV002073995] Chr2:219213930 [GRCh38]
Chr2:220078652 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser) single nucleotide variant Acute intermittent porphyria [RCV001733864]|not provided [RCV002539842] Chr2:219210782 [GRCh38]
Chr2:220075504 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_005689.4(ABCB6):c.2350A>G (p.Arg784Gly) single nucleotide variant not provided [RCV001814853] Chr2:219210382 [GRCh38]
Chr2:220075104 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1119G>A (p.Ala373=) single nucleotide variant not provided [RCV002041382] Chr2:219216032 [GRCh38]
Chr2:220080754 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_005689.4(ABCB6):c.2216G>A (p.Arg739His) single nucleotide variant not provided [RCV001973146] Chr2:219210751 [GRCh38]
Chr2:220075473 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.196G>A (p.Ala66Thr) single nucleotide variant Inborn genetic diseases [RCV004641793]|not provided [RCV001952333] Chr2:219218478 [GRCh38]
Chr2:220083200 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.827G>A (p.Arg276Gln) single nucleotide variant not provided [RCV001901431] Chr2:219216693 [GRCh38]
Chr2:220081415 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1404C>T (p.Ala468=) single nucleotide variant not provided [RCV001957448] Chr2:219214169 [GRCh38]
Chr2:220078891 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2373T>C (p.Ala791=) single nucleotide variant ABCB6-related disorder [RCV003950917]|not provided [RCV002190125] Chr2:219210277 [GRCh38]
Chr2:220074999 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.687+10A>G single nucleotide variant not provided [RCV002107311] Chr2:219217660 [GRCh38]
Chr2:220082382 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.171T>C (p.Ala57=) single nucleotide variant not provided [RCV002086470] Chr2:219218503 [GRCh38]
Chr2:220083225 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.2202C>G (p.Arg734=) single nucleotide variant not provided [RCV002093906] Chr2:219210765 [GRCh38]
Chr2:220075487 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1854A>C (p.Thr618=) single nucleotide variant not provided [RCV002116726] Chr2:219213017 [GRCh38]
Chr2:220077739 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.318T>C (p.Tyr106=) single nucleotide variant not provided [RCV002216904] Chr2:219218356 [GRCh38]
Chr2:220083078 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.312A>G (p.Pro104=) single nucleotide variant not provided [RCV002217547] Chr2:219218362 [GRCh38]
Chr2:220083084 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.953del (p.Gly318fs) deletion not provided [RCV004776662] Chr2:219216381 [GRCh38]
Chr2:220081103 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1267C>T (p.Leu423Phe) single nucleotide variant Inborn genetic diseases [RCV003242266] Chr2:219214970 [GRCh38]
Chr2:220079692 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs) duplication not provided [RCV003156699] Chr2:219213860..219213861 [GRCh38]
Chr2:220078582..220078583 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.832C>T (p.Leu278Phe) single nucleotide variant not provided [RCV002274757] Chr2:219216688 [GRCh38]
Chr2:220081410 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1502A>C (p.Gln501Pro) single nucleotide variant not provided [RCV002283101] Chr2:219213902 [GRCh38]
Chr2:220078624 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1374_1375insCA (p.Asn459fs) insertion not provided [RCV003236112] Chr2:219214400..219214401 [GRCh38]
Chr2:220079122..220079123 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.515A>T (p.Gln172Leu) single nucleotide variant not provided [RCV003149315] Chr2:219218159 [GRCh38]
Chr2:220082881 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.404G>T (p.Arg135Leu) single nucleotide variant not provided [RCV002464905] Chr2:219218270 [GRCh38]
Chr2:220082992 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1386+15G>A single nucleotide variant not provided [RCV002775996] Chr2:219214374 [GRCh38]
Chr2:220079096 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.836A>G (p.Asn279Ser) single nucleotide variant Inborn genetic diseases [RCV002728630] Chr2:219216684 [GRCh38]
Chr2:220081406 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.968C>T (p.Thr323Ile) single nucleotide variant Inborn genetic diseases [RCV002972969] Chr2:219216366 [GRCh38]
Chr2:220081088 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1430G>A (p.Arg477Gln) single nucleotide variant Inborn genetic diseases [RCV002840819] Chr2:219214143 [GRCh38]
Chr2:220078865 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1864-12C>T single nucleotide variant not provided [RCV002686258] Chr2:219212503 [GRCh38]
Chr2:220077225 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.548A>C (p.Gln183Pro) single nucleotide variant Inborn genetic diseases [RCV002687347] Chr2:219218126 [GRCh38]
Chr2:220082848 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2327G>A (p.Arg776His) single nucleotide variant Inborn genetic diseases [RCV002734154] Chr2:219210405 [GRCh38]
Chr2:220075127 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1694T>C (p.Phe565Ser) single nucleotide variant not provided [RCV002947104] Chr2:219213464 [GRCh38]
Chr2:220078186 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2167C>T (p.Arg723Trp) single nucleotide variant not provided [RCV002751274] Chr2:219210800 [GRCh38]
Chr2:220075522 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2338G>A (p.Val780Ile) single nucleotide variant Inborn genetic diseases [RCV002859307] Chr2:219210394 [GRCh38]
Chr2:220075116 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.226C>T (p.Gln76Ter) single nucleotide variant not provided [RCV002731001] Chr2:219218448 [GRCh38]
Chr2:220083170 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.81C>T (p.Phe27=) single nucleotide variant not provided [RCV002640246] Chr2:219218593 [GRCh38]
Chr2:220083315 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1349G>A (p.Arg450Gln) single nucleotide variant Inborn genetic diseases [RCV002981703]|not provided [RCV003730351] Chr2:219214426 [GRCh38]
Chr2:220079148 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2359A>T (p.Thr787Ser) single nucleotide variant Inborn genetic diseases [RCV002762853] Chr2:219210291 [GRCh38]
Chr2:220075013 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.412A>G (p.Met138Val) single nucleotide variant not provided [RCV002638354] Chr2:219218262 [GRCh38]
Chr2:220082984 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1508T>C (p.Leu503Pro) single nucleotide variant Inborn genetic diseases [RCV002950181] Chr2:219213896 [GRCh38]
Chr2:220078618 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2479G>A (p.Gly827Arg) single nucleotide variant Inborn genetic diseases [RCV002737953] Chr2:219209988 [GRCh38]
Chr2:220074710 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.962G>A (p.Gly321Asp) single nucleotide variant not provided [RCV002695126] Chr2:219216372 [GRCh38]
Chr2:220081094 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1863+8G>C single nucleotide variant not provided [RCV002913427] Chr2:219213000 [GRCh38]
Chr2:220077722 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_005689.4(ABCB6):c.1997T>C (p.Ile666Thr) single nucleotide variant not provided [RCV002760913] Chr2:219211080 [GRCh38]
Chr2:220075802 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1319G>A (p.Arg440His) single nucleotide variant Inborn genetic diseases [RCV002951590] Chr2:219214456 [GRCh38]
Chr2:220079178 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2425G>A (p.Glu809Lys) single nucleotide variant Inborn genetic diseases [RCV002958092]|not provided [RCV002958093] Chr2:219210042 [GRCh38]
Chr2:220074764 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.571C>A (p.Leu191Met) single nucleotide variant Inborn genetic diseases [RCV002919734] Chr2:219217786 [GRCh38]
Chr2:220082508 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1188C>T (p.Ala396=) single nucleotide variant not provided [RCV003005324] Chr2:219215049 [GRCh38]
Chr2:220079771 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.2062C>G (p.Arg688Gly) single nucleotide variant Inborn genetic diseases [RCV002787002] Chr2:219211015 [GRCh38]
Chr2:220075737 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2063G>A (p.Arg688His) single nucleotide variant Inborn genetic diseases [RCV002955446]|not provided [RCV004790438] Chr2:219211014 [GRCh38]
Chr2:220075736 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1088G>A (p.Gly363Glu) single nucleotide variant Inborn genetic diseases [RCV002641208] Chr2:219216063 [GRCh38]
Chr2:220080785 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2351+12C>T single nucleotide variant not provided [RCV002574953] Chr2:219210369 [GRCh38]
Chr2:220075091 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.866T>C (p.Ile289Thr) single nucleotide variant not provided [RCV002601339] Chr2:219216654 [GRCh38]
Chr2:220081376 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2510C>T (p.Pro837Leu) single nucleotide variant not provided [RCV002962474] Chr2:219209957 [GRCh38]
Chr2:220074679 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1342G>A (p.Ala448Thr) single nucleotide variant Inborn genetic diseases [RCV002897712] Chr2:219214433 [GRCh38]
Chr2:220079155 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.294C>G (p.Ala98=) single nucleotide variant not provided [RCV003011333] Chr2:219218380 [GRCh38]
Chr2:220083102 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.2041G>A (p.Ala681Thr) single nucleotide variant not provided [RCV002877583] Chr2:219211036 [GRCh38]
Chr2:220075758 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1726G>A (p.Asp576Asn) single nucleotide variant Inborn genetic diseases [RCV002921032] Chr2:219213320 [GRCh38]
Chr2:220078042 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.928G>C (p.Val310Leu) single nucleotide variant Inborn genetic diseases [RCV002939242] Chr2:219216406 [GRCh38]
Chr2:220081128 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2465G>T (p.Trp822Leu) single nucleotide variant not provided [RCV002578983] Chr2:219210002 [GRCh38]
Chr2:220074724 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1090C>T (p.Arg364Cys) single nucleotide variant Inborn genetic diseases [RCV002677317] Chr2:219216061 [GRCh38]
Chr2:220080783 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.80T>G (p.Phe27Cys) single nucleotide variant Inborn genetic diseases [RCV003161856]|not provided [RCV002584827] Chr2:219218594 [GRCh38]
Chr2:220083316 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1123del (p.Arg375fs) deletion not provided [RCV002676772] Chr2:219216028 [GRCh38]
Chr2:220080750 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.971-13del deletion not provided [RCV002583949] Chr2:219216193 [GRCh38]
Chr2:220080915 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1864-9A>G single nucleotide variant not provided [RCV002582570] Chr2:219212500 [GRCh38]
Chr2:220077222 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1413C>T (p.Tyr471=) single nucleotide variant not provided [RCV003069473] Chr2:219214160 [GRCh38]
Chr2:220078882 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1419G>A (p.Val473=) single nucleotide variant not provided [RCV003069888] Chr2:219214154 [GRCh38]
Chr2:220078876 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1155-12C>T single nucleotide variant not provided [RCV002604162] Chr2:219215094 [GRCh38]
Chr2:220079816 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.304C>T (p.Pro102Ser) single nucleotide variant Inborn genetic diseases [RCV002723423] Chr2:219218370 [GRCh38]
Chr2:220083092 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2512C>T (p.Gln838Ter) single nucleotide variant not provided [RCV004792065] Chr2:219209955 [GRCh38]
Chr2:220074677 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.827G>C (p.Arg276Pro) single nucleotide variant not provided [RCV004792068] Chr2:219216693 [GRCh38]
Chr2:220081415 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.803G>T (p.Cys268Phe) single nucleotide variant not provided [RCV004792069] Chr2:219216717 [GRCh38]
Chr2:220081439 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.192G>C (p.Trp64Cys) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV004789954] Chr2:219218482 [GRCh38]
Chr2:220083204 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.139G>A (p.Ala47Thr) single nucleotide variant Inborn genetic diseases [RCV003202590] Chr2:219218535 [GRCh38]
Chr2:220083257 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1315C>T (p.Arg439Cys) single nucleotide variant Inborn genetic diseases [RCV003195603] Chr2:219214460 [GRCh38]
Chr2:220079182 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.659A>T (p.Glu220Val) single nucleotide variant not provided [RCV003139488] Chr2:219217698 [GRCh38]
Chr2:220082420 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.581T>C (p.Val194Ala) single nucleotide variant Inborn genetic diseases [RCV003304080] Chr2:219217776 [GRCh38]
Chr2:220082498 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1405G>C (p.Glu469Gln) single nucleotide variant Inborn genetic diseases [RCV003213388] Chr2:219214168 [GRCh38]
Chr2:220078890 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_005689.4(ABCB6):c.1589A>G (p.Tyr530Cys) single nucleotide variant Inborn genetic diseases [RCV003340306] Chr2:219213656 [GRCh38]
Chr2:220078378 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.683G>A (p.Ser228Asn) single nucleotide variant not provided [RCV003334234] Chr2:219217674 [GRCh38]
Chr2:220082396 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_005689.4(ABCB6):c.1030C>T (p.Arg344Trp) single nucleotide variant Inborn genetic diseases [RCV003385283] Chr2:219216121 [GRCh38]
Chr2:220080843 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1094G>A (p.Arg365His) single nucleotide variant Inborn genetic diseases [RCV003368556] Chr2:219216057 [GRCh38]
Chr2:220080779 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1979C>A (p.Ala660Asp) single nucleotide variant not provided [RCV003481678] Chr2:219211098 [GRCh38]
Chr2:220075820 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1402G>T (p.Ala468Ser) single nucleotide variant not provided [RCV003481681] Chr2:219214171 [GRCh38]
Chr2:220078893 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1751G>A (p.Arg584His) single nucleotide variant ABCB6-related disorder [RCV003419160] Chr2:219213295 [GRCh38]
Chr2:220078017 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1452+4A>G single nucleotide variant not provided [RCV003429550] Chr2:219214117 [GRCh38]
Chr2:220078839 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.953G>T (p.Gly318Val) single nucleotide variant not provided [RCV003440178] Chr2:219216381 [GRCh38]
Chr2:220081103 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_005689.4(ABCB6):c.1979C>T (p.Ala660Val) single nucleotide variant not provided [RCV003481679] Chr2:219211098 [GRCh38]
Chr2:220075820 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2313A>C (p.Lys771Asn) single nucleotide variant ABCB6-related disorder [RCV003394364] Chr2:219210419 [GRCh38]
Chr2:220075141 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.650A>G (p.Gln217Arg) single nucleotide variant ABCB6-related disorder [RCV003412101] Chr2:219217707 [GRCh38]
Chr2:220082429 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.317A>G (p.Tyr106Cys) single nucleotide variant not provided [RCV003429551] Chr2:219218357 [GRCh38]
Chr2:220083079 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1619T>G (p.Leu540Arg) single nucleotide variant ABCB6-related disorder [RCV003412347] Chr2:219213626 [GRCh38]
Chr2:220078348 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2395G>A (p.Asp799Asn) single nucleotide variant ABCB6-related disorder [RCV003397381]|not provided [RCV003778240] Chr2:219210255 [GRCh38]
Chr2:220074977 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2314G>T (p.Val772Phe) single nucleotide variant not provided [RCV003440177] Chr2:219210418 [GRCh38]
Chr2:220075140 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity
NM_005689.4(ABCB6):c.1579-7G>A single nucleotide variant not provided [RCV003739872] Chr2:219213673 [GRCh38]
Chr2:220078395 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1908G>C (p.Leu636=) single nucleotide variant not provided [RCV003849177] Chr2:219212447 [GRCh38]
Chr2:220077169 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.633C>G (p.Pro211=) single nucleotide variant not provided [RCV003546258] Chr2:219217724 [GRCh38]
Chr2:220082446 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.2053C>T (p.Arg685Cys) single nucleotide variant not provided [RCV003691168] Chr2:219211024 [GRCh38]
Chr2:220075746 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.994T>C (p.Phe332Leu) single nucleotide variant not provided [RCV003578144] Chr2:219216157 [GRCh38]
Chr2:220080879 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1969-6C>T single nucleotide variant not provided [RCV003578107] Chr2:219211114 [GRCh38]
Chr2:220075836 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1622A>G (p.Tyr541Cys) single nucleotide variant not provided [RCV003697690] Chr2:219213623 [GRCh38]
Chr2:220078345 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1324A>G (p.Met442Val) single nucleotide variant not provided [RCV003832361] Chr2:219214451 [GRCh38]
Chr2:220079173 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1277-14C>G single nucleotide variant not provided [RCV003814378] Chr2:219214512 [GRCh38]
Chr2:220079234 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.1561A>G (p.Thr521Ala) single nucleotide variant not provided [RCV003548096] Chr2:219213843 [GRCh38]
Chr2:220078565 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2351+6G>A single nucleotide variant not provided [RCV003811993] Chr2:219210375 [GRCh38]
Chr2:220075097 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1355G>A (p.Arg452Gln) single nucleotide variant not provided [RCV003839812] Chr2:219214420 [GRCh38]
Chr2:220079142 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.926dup (p.Tyr309Ter) duplication ABCB6-related disorder [RCV004750906]|not provided [RCV003560171] Chr2:219216407..219216408 [GRCh38]
Chr2:220081129..220081130 [GRCh37]
Chr2:2q35		 likely pathogenic|likely benign
NM_005689.4(ABCB6):c.970+13C>T single nucleotide variant not provided [RCV003816694] Chr2:219216351 [GRCh38]
Chr2:220081073 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1331C>T (p.Thr444Ile) single nucleotide variant not provided [RCV003843088] Chr2:219214444 [GRCh38]
Chr2:220079166 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1783G>A (p.Val595Met) single nucleotide variant not provided [RCV003730997] Chr2:219213263 [GRCh38]
Chr2:220077985 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2144-17G>A single nucleotide variant not provided [RCV003819930] Chr2:219210840 [GRCh38]
Chr2:220075562 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1169A>G (p.Asn390Ser) single nucleotide variant not provided [RCV003708435] Chr2:219215068 [GRCh38]
Chr2:220079790 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.738C>G (p.Leu246=) single nucleotide variant not provided [RCV003720552] Chr2:219216782 [GRCh38]
Chr2:220081504 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1988G>A (p.Arg663Gln) single nucleotide variant not provided [RCV003846097] Chr2:219211089 [GRCh38]
Chr2:220075811 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.916G>A (p.Val306Ile) single nucleotide variant not provided [RCV003728199] Chr2:219216418 [GRCh38]
Chr2:220081140 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.526G>A (p.Ala176Thr) single nucleotide variant Inborn genetic diseases [RCV004421682] Chr2:219218148 [GRCh38]
Chr2:220082870 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.590G>A (p.Gly197Glu) single nucleotide variant Inborn genetic diseases [RCV004421777] Chr2:219217767 [GRCh38]
Chr2:220082489 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.317A>C (p.Tyr106Ser) single nucleotide variant Inborn genetic diseases [RCV004421571] Chr2:219218357 [GRCh38]
Chr2:220083079 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1796A>G (p.Tyr599Cys) single nucleotide variant Inborn genetic diseases [RCV004419221] Chr2:219213250 [GRCh38]
Chr2:220077972 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1397A>G (p.Tyr466Cys) single nucleotide variant Inborn genetic diseases [RCV004418967] Chr2:219214176 [GRCh38]
Chr2:220078898 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.867T>C (p.Ile289=) single nucleotide variant not provided [RCV003992996] Chr2:219216653 [GRCh38]
Chr2:220081375 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.302C>G (p.Ala101Gly) single nucleotide variant Inborn genetic diseases [RCV004421497] Chr2:219218372 [GRCh38]
Chr2:220083094 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1705A>G (p.Lys569Glu) single nucleotide variant Inborn genetic diseases [RCV004419176] Chr2:219213453 [GRCh38]
Chr2:220078175 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.881C>A (p.Thr294Asn) single nucleotide variant Inborn genetic diseases [RCV004421853] Chr2:219216453 [GRCh38]
Chr2:220081175 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.230T>A (p.Leu77Gln) single nucleotide variant Inborn genetic diseases [RCV004419316] Chr2:219218444 [GRCh38]
Chr2:220083166 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1658T>C (p.Met553Thr) single nucleotide variant Inborn genetic diseases [RCV004419148] Chr2:219213500 [GRCh38]
Chr2:220078222 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2029A>T (p.Asn677Tyr) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV003990309] Chr2:219211048 [GRCh38]
Chr2:220075770 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_005689.4(ABCB6):c.1276+7G>A single nucleotide variant not provided [RCV003886112] Chr2:219214954 [GRCh38]
Chr2:220079676 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.128C>A (p.Ala43Asp) single nucleotide variant Inborn genetic diseases [RCV004416753] Chr2:219218546 [GRCh38]
Chr2:220083268 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1298A>C (p.Glu433Ala) single nucleotide variant Inborn genetic diseases [RCV004416780] Chr2:219214477 [GRCh38]
Chr2:220079199 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.2196G>A (p.Lys732=) single nucleotide variant ABCB6-related disorder [RCV003927398] Chr2:219210771 [GRCh38]
Chr2:220075493 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.649C>A (p.Gln217Lys) single nucleotide variant not provided [RCV003885535] Chr2:219217708 [GRCh38]
Chr2:220082430 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.1452+2T>A single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV003991334] Chr2:219214119 [GRCh38]
Chr2:220078841 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_005689.4(ABCB6):c.1874C>A (p.Ser625Tyr) single nucleotide variant Inborn genetic diseases [RCV004640360] Chr2:219212481 [GRCh38]
Chr2:220077203 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.790G>A (p.Val264Met) single nucleotide variant Inborn genetic diseases [RCV004642757] Chr2:219216730 [GRCh38]
Chr2:220081452 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.683G>T (p.Ser228Ile) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV004698739] Chr2:219217674 [GRCh38]
Chr2:220082396 [GRCh37]
Chr2:2q35		 likely benign
NM_005689.4(ABCB6):c.734A>G (p.Lys245Arg) single nucleotide variant Inborn genetic diseases [RCV004642674] Chr2:219216786 [GRCh38]
Chr2:220081508 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.254C>T (p.Ala85Val) single nucleotide variant Inborn genetic diseases [RCV004636421] Chr2:219218420 [GRCh38]
Chr2:220083142 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.413T>C (p.Met138Thr) single nucleotide variant Inborn genetic diseases [RCV004640429] Chr2:219218261 [GRCh38]
Chr2:220082983 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1955A>G (p.Gln652Arg) single nucleotide variant Inborn genetic diseases [RCV004640501] Chr2:219212400 [GRCh38]
Chr2:220077122 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.316T>C (p.Tyr106His) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV004698743] Chr2:219218358 [GRCh38]
Chr2:220083080 [GRCh37]
Chr2:2q35		 benign
NM_005689.4(ABCB6):c.2420+1G>A single nucleotide variant not provided [RCV004792066] Chr2:219210229 [GRCh38]
Chr2:220074951 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.68T>C (p.Leu23Pro) single nucleotide variant not provided [RCV004772564] Chr2:219218606 [GRCh38]
Chr2:220083328 [GRCh37]
Chr2:2q35		 uncertain significance
NM_005689.4(ABCB6):c.1589_1590del (p.Tyr530fs) deletion ABCB6-related disorder [RCV004752458] Chr2:219213655..219213656 [GRCh38]
Chr2:220078377..220078378 [GRCh37]
Chr2:2q35		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2856
Count of miRNA genes:946
Interacting mature miRNAs:1135
Transcripts:ENST00000265316, ENST00000295750, ENST00000417678, ENST00000439002, ENST00000443805, ENST00000448398, ENST00000452545, ENST00000485773, ENST00000487380, ENST00000492543, ENST00000492953, ENST00000494639, ENST00000496984, ENST00000497882
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
407227191GWAS876167_Hreticulocyte count QTL GWAS876167 (human)1e-21reticulocyte counttotal reticulocyte count (CMO:0003020)2219216694219216695Human
407383547GWAS1032523_Hobsolete_red blood cell distribution width QTL GWAS1032523 (human)3e-20obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)2219216694219216695Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407386220GWAS1035196_Hobsolete_red blood cell distribution width QTL GWAS1035196 (human)6e-23obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)2219216694219216695Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407250720GWAS899696_Hreticulocyte count QTL GWAS899696 (human)4e-44reticulocyte counttotal reticulocyte count (CMO:0003020)2219216694219216695Human
407307372GWAS956348_Hreticulocyte measurement QTL GWAS956348 (human)8e-43reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)2219216694219216695Human
407089918GWAS738894_Hobsolete_red blood cell distribution width QTL GWAS738894 (human)2e-20reticulocyte counttotal reticulocyte count (CMO:0003020)2219216694219216695Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
407407495GWAS1056471_Hobsolete_red blood cell distribution width QTL GWAS1056471 (human)2e-17obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)2219216694219216695Human

Markers in Region
A002Q44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,125 - 220,084,247UniSTSGRCh37
Build 362219,792,369 - 219,792,491RGDNCBI36
Celera2213,853,832 - 213,853,954RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,422 - 211,937,544UniSTS
GeneMap99-GB4 RH Map2683.98UniSTS
RH68357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,118 - 220,084,241UniSTSGRCh37
Build 362219,792,362 - 219,792,485RGDNCBI36
Celera2213,853,825 - 213,853,948RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,415 - 211,937,538UniSTS
GeneMap99-GB4 RH Map2682.56UniSTS
NCBI RH Map21772.3UniSTS
RH103428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,722 - 220,075,129UniSTSGRCh37
Build 362219,782,966 - 219,783,373RGDNCBI36
Celera2213,844,428 - 213,844,835RGD
Cytogenetic Map2q36UniSTS
HuRef2211,928,019 - 211,928,426UniSTS
GeneMap99-GB4 RH Map2683.57UniSTS
RH121051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,078,613 - 220,078,899UniSTSGRCh37
Build 362219,786,857 - 219,787,143RGDNCBI36
Celera2213,848,320 - 213,848,606RGD
Cytogenetic Map2q36UniSTS
HuRef2211,931,910 - 211,932,196UniSTS
TNG Radiation Hybrid Map2121638.0UniSTS
WI-19704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,132 - 220,084,426UniSTSGRCh37
Build 362219,792,376 - 219,792,670RGDNCBI36
Celera2213,853,839 - 213,854,133RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,429 - 211,937,723UniSTS
GeneMap99-GB4 RH Map2683.77UniSTS
Whitehead-RH Map21009.1UniSTS
D2S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,517 - 220,074,658UniSTSGRCh37
Build 362219,782,761 - 219,782,902RGDNCBI36
Celera2213,844,223 - 213,844,364RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,927,814 - 211,927,955UniSTS
RH18248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,076 - 220,074,354UniSTSGRCh37
Build 362219,782,320 - 219,782,598RGDNCBI36
Celera2213,843,782 - 213,844,060RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,927,373 - 211,927,651UniSTS
GeneMap99-GB4 RH Map2682.63UniSTS
NCBI RH Map21772.3UniSTS
WI-20003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,557 - 220,075,023UniSTSGRCh37
Build 362219,782,801 - 219,783,267RGDNCBI36
Celera2213,844,263 - 213,844,729RGD
Cytogenetic Map2q36UniSTS
HuRef2211,927,854 - 211,928,320UniSTS
GeneMap99-GB4 RH Map2683.96UniSTS
Whitehead-RH Map21009.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2249 4968 1726 2349 5 623 1946 465 2268 7293 6463 52 3731 852 1743 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB039371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB854110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB854111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF076775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF308472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF308473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ289233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW664349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX688759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK965668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK965669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL790089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265316   ⟹   ENSP00000265316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,209,772 - 219,218,958 (-)Ensembl
Ensembl Acc Id: ENST00000295750   ⟹   ENSP00000295750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,209,772 - 219,218,994 (-)Ensembl
Ensembl Acc Id: ENST00000417678   ⟹   ENSP00000392988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,214,168 - 219,218,426 (-)Ensembl
Ensembl Acc Id: ENST00000443805   ⟹   ENSP00000414646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,209,776 - 219,211,038 (-)Ensembl
Ensembl Acc Id: ENST00000448398   ⟹   ENSP00000404006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,213,240 - 219,218,476 (-)Ensembl
Ensembl Acc Id: ENST00000452545   ⟹   ENSP00000401811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,215,029 - 219,218,190 (-)Ensembl
Ensembl Acc Id: ENST00000485773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,209,772 - 219,211,108 (-)Ensembl
Ensembl Acc Id: ENST00000487380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,209,772 - 219,211,039 (-)Ensembl
Ensembl Acc Id: ENST00000492543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,210,711 - 219,213,420 (-)Ensembl
Ensembl Acc Id: ENST00000492953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,214,141 - 219,216,288 (-)Ensembl
Ensembl Acc Id: ENST00000494639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,213,602 - 219,214,683 (-)Ensembl
Ensembl Acc Id: ENST00000496984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,213,898 - 219,215,437 (-)Ensembl
Ensembl Acc Id: ENST00000497882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,209,772 - 219,215,885 (-)Ensembl
RefSeq Acc Id: NM_001349828   ⟹   NP_001336757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,209,772 - 219,218,958 (-)NCBI
T2T-CHM13v2.02219,694,538 - 219,703,724 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005689   ⟹   NP_005680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,209,772 - 219,218,958 (-)NCBI
GRCh372220,074,488 - 220,083,712 (-)ENTREZGENE
Build 362219,782,738 - 219,791,916 (-)NCBI Archive
HuRef2211,927,785 - 211,937,009 (-)ENTREZGENE
CHM1_12220,080,323 - 220,089,548 (-)NCBI
T2T-CHM13v2.02219,694,538 - 219,703,724 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001336757 (Get FASTA)   NCBI Sequence Viewer  
  NP_005680 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28653 (Get FASTA)   NCBI Sequence Viewer  
  AAF75107 (Get FASTA)   NCBI Sequence Viewer  
  AAG33617 (Get FASTA)   NCBI Sequence Viewer  
  AAG33618 (Get FASTA)   NCBI Sequence Viewer  
  AAH00559 (Get FASTA)   NCBI Sequence Viewer  
  AAH43423 (Get FASTA)   NCBI Sequence Viewer  
  AOZ15555 (Get FASTA)   NCBI Sequence Viewer  
  BAA96733 (Get FASTA)   NCBI Sequence Viewer  
  BAB71347 (Get FASTA)   NCBI Sequence Viewer  
  BAD18782 (Get FASTA)   NCBI Sequence Viewer  
  BAG64317 (Get FASTA)   NCBI Sequence Viewer  
  BAN91499 (Get FASTA)   NCBI Sequence Viewer  
  BAN91500 (Get FASTA)   NCBI Sequence Viewer  
  BAN91501 (Get FASTA)   NCBI Sequence Viewer  
  BAN91502 (Get FASTA)   NCBI Sequence Viewer  
  BAN91503 (Get FASTA)   NCBI Sequence Viewer  
  BAN91504 (Get FASTA)   NCBI Sequence Viewer  
  CAB95766 (Get FASTA)   NCBI Sequence Viewer  
  EAW70694 (Get FASTA)   NCBI Sequence Viewer  
  EAW70695 (Get FASTA)   NCBI Sequence Viewer  
  EAW70696 (Get FASTA)   NCBI Sequence Viewer  
  EAW70697 (Get FASTA)   NCBI Sequence Viewer  
  EAW70698 (Get FASTA)   NCBI Sequence Viewer  
  EAW70699 (Get FASTA)   NCBI Sequence Viewer  
  EAW70700 (Get FASTA)   NCBI Sequence Viewer  
  EAW70701 (Get FASTA)   NCBI Sequence Viewer  
  EAW70702 (Get FASTA)   NCBI Sequence Viewer  
  EAW70703 (Get FASTA)   NCBI Sequence Viewer  
  EAW70704 (Get FASTA)   NCBI Sequence Viewer  
  EAW70705 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265316
  ENSP00000265316.3
  ENSP00000295750
  ENSP00000295750.5
  ENSP00000392988.1
  ENSP00000401811.1
  ENSP00000404006.1
  ENSP00000414646.1
GenBank Protein Q9NP58 (Get FASTA)   NCBI Sequence Viewer  
  QHB50533 (Get FASTA)   NCBI Sequence Viewer  
  QHB50534 (Get FASTA)   NCBI Sequence Viewer  
  UQX14399 (Get FASTA)   NCBI Sequence Viewer  
  UQX14400 (Get FASTA)   NCBI Sequence Viewer  
  UQX14401 (Get FASTA)   NCBI Sequence Viewer  
  UQX14402 (Get FASTA)   NCBI Sequence Viewer  
  UQX14403 (Get FASTA)   NCBI Sequence Viewer  
  UQX14404 (Get FASTA)   NCBI Sequence Viewer  
  UQX14405 (Get FASTA)   NCBI Sequence Viewer  
  UQX14406 (Get FASTA)   NCBI Sequence Viewer  
  UQX14407 (Get FASTA)   NCBI Sequence Viewer  
  UQX14408 (Get FASTA)   NCBI Sequence Viewer  
  UQX14409 (Get FASTA)   NCBI Sequence Viewer  
  UQX14410 (Get FASTA)   NCBI Sequence Viewer  
  UQX14411 (Get FASTA)   NCBI Sequence Viewer  
  UQX14412 (Get FASTA)   NCBI Sequence Viewer  
  UQX14413 (Get FASTA)   NCBI Sequence Viewer  
  UQX14414 (Get FASTA)   NCBI Sequence Viewer  
  UQX14415 (Get FASTA)   NCBI Sequence Viewer  
  UQX14416 (Get FASTA)   NCBI Sequence Viewer  
  UQX14417 (Get FASTA)   NCBI Sequence Viewer  
  UQX14418 (Get FASTA)   NCBI Sequence Viewer  
  UQX14419 (Get FASTA)   NCBI Sequence Viewer  
  UQX14420 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09750 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09751 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09752 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09753 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09754 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09755 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09756 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09757 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09758 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09759 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09760 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09761 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09762 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09763 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09764 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09765 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09766 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09767 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09768 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09769 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09770 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09771 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09772 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09773 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09774 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09775 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09776 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09777 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09778 (Get FASTA)   NCBI Sequence Viewer  
  WBR34602 (Get FASTA)   NCBI Sequence Viewer  
  WBR34603 (Get FASTA)   NCBI Sequence Viewer  
  WBR34604 (Get FASTA)   NCBI Sequence Viewer  
  WBR34605 (Get FASTA)   NCBI Sequence Viewer  
  WBR34606 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005680   ⟸   NM_005689
- Peptide Label: isoform 1
- UniProtKB: Q9HAQ6 (UniProtKB/Swiss-Prot),   Q96ME8 (UniProtKB/Swiss-Prot),   Q6ZME6 (UniProtKB/Swiss-Prot),   Q59GQ5 (UniProtKB/Swiss-Prot),   Q49A66 (UniProtKB/Swiss-Prot),   O75542 (UniProtKB/Swiss-Prot),   Q9HAQ7 (UniProtKB/Swiss-Prot),   Q9NP58 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336757   ⟸   NM_001349828
- Peptide Label: isoform 2
- Sequence:
Ensembl Acc Id: ENSP00000401811   ⟸   ENST00000452545
Ensembl Acc Id: ENSP00000295750   ⟸   ENST00000295750
Ensembl Acc Id: ENSP00000392988   ⟸   ENST00000417678
Ensembl Acc Id: ENSP00000414646   ⟸   ENST00000443805
Ensembl Acc Id: ENSP00000404006   ⟸   ENST00000448398
Ensembl Acc Id: ENSP00000265316   ⟸   ENST00000265316
Protein Domains
ABC transmembrane type-1   ABC transporter   Mitochondrial ABC-transporter N-terminal five TM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NP58-F1-model_v2 AlphaFold Q9NP58 1-842 view protein structure

Promoters
RGD ID:6862884
Promoter ID:EPDNEW_H4607
Type:initiation region
Name:ABCB6_4
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4608  EPDNEW_H4609  EPDNEW_H4610  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,210,849 - 219,210,909EPDNEW
RGD ID:6862886
Promoter ID:EPDNEW_H4608
Type:initiation region
Name:ABCB6_2
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4607  EPDNEW_H4609  EPDNEW_H4610  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,218,433 - 219,218,493EPDNEW
RGD ID:6862888
Promoter ID:EPDNEW_H4609
Type:initiation region
Name:ABCB6_3
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4607  EPDNEW_H4608  EPDNEW_H4610  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,218,849 - 219,218,909EPDNEW
RGD ID:6862890
Promoter ID:EPDNEW_H4610
Type:initiation region
Name:ABCB6_1
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4607  EPDNEW_H4608  EPDNEW_H4609  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,218,958 - 219,219,018EPDNEW
RGD ID:6796455
Promoter ID:HG_KWN:37325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000336028,   OTTHUMT00000336029,   OTTHUMT00000336030
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,783,609 - 219,784,109 (-)MPROMDB
RGD ID:6796457
Promoter ID:HG_KWN:37326
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:OTTHUMT00000336027
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,786,021 - 219,786,521 (-)MPROMDB
RGD ID:6796454
Promoter ID:HG_KWN:37327
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336022,   OTTHUMT00000336024,   OTTHUMT00000336025,   OTTHUMT00000336026
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,787,149 - 219,787,649 (-)MPROMDB
RGD ID:6797200
Promoter ID:HG_KWN:37328
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000295750,   OTTHUMT00000336019,   OTTHUMT00000336023,   OTTHUMT00000336031,   UC002VKC.1,   UC010FWE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,791,619 - 219,792,119 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:47 AgrOrtholog
COSMIC ABCB6 COSMIC
Ensembl Genes ENSG00000115657 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265316 ENTREZGENE
  ENST00000265316.9 UniProtKB/Swiss-Prot
  ENST00000295750 ENTREZGENE
  ENST00000295750.5 UniProtKB/Swiss-Prot
  ENST00000417678.5 UniProtKB/TrEMBL
  ENST00000443805.1 UniProtKB/TrEMBL
  ENST00000448398.5 UniProtKB/TrEMBL
  ENST00000452545.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000115657 GTEx
HGNC ID HGNC:47 ENTREZGENE
Human Proteome Map ABCB6 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot
  ABC1_TM_sf UniProtKB/Swiss-Prot
  ABC_transporter-like UniProtKB/Swiss-Prot
  ABC_transporter_CS UniProtKB/Swiss-Prot
  MTABC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot
  Type_I_exporter UniProtKB/Swiss-Prot
KEGG Report hsa:10058 UniProtKB/Swiss-Prot
NCBI Gene 10058 ENTREZGENE
OMIM 605452 OMIM
PANTHER ATP-BINDING CASSETTE SUB-FAMILY B MEMBER 6 UniProtKB/Swiss-Prot
  PTHR24221 UniProtKB/Swiss-Prot
Pfam ABC_membrane UniProtKB/Swiss-Prot
  ABC_tran UniProtKB/Swiss-Prot
  MTABC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24388 PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
  SSF90123 UniProtKB/Swiss-Prot
UniProt A0A1D9ITY9_HUMAN UniProtKB/TrEMBL
  A0A6B9LUA1_HUMAN UniProtKB/TrEMBL
  A0A6B9LUM2_HUMAN UniProtKB/TrEMBL
  ABCB6_HUMAN UniProtKB/Swiss-Prot
  H7C049_HUMAN UniProtKB/TrEMBL
  H7C1R6_HUMAN UniProtKB/TrEMBL
  H7C245_HUMAN UniProtKB/TrEMBL
  H7C3Z0_HUMAN UniProtKB/TrEMBL
  O75542 ENTREZGENE
  Q49A66 ENTREZGENE
  Q59GQ5 ENTREZGENE
  Q6ZME6 ENTREZGENE
  Q96ME8 ENTREZGENE
  Q9HAQ6 ENTREZGENE
  Q9HAQ7 ENTREZGENE
  Q9NP58 ENTREZGENE
  U3TD89_HUMAN UniProtKB/TrEMBL
  U3TGG4_HUMAN UniProtKB/TrEMBL
  U3THN0_HUMAN UniProtKB/TrEMBL
  U3THP2_HUMAN UniProtKB/TrEMBL
  U3TJJ6_HUMAN UniProtKB/TrEMBL
  U3TJK0_HUMAN UniProtKB/TrEMBL
UniProt Secondary O75542 UniProtKB/Swiss-Prot
  Q49A66 UniProtKB/Swiss-Prot
  Q59GQ5 UniProtKB/Swiss-Prot
  Q6ZME6 UniProtKB/Swiss-Prot
  Q96ME8 UniProtKB/Swiss-Prot
  Q9HAQ6 UniProtKB/Swiss-Prot
  Q9HAQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-01-29 ABCB6  ATP binding cassette subfamily B member 6 (LAN blood group)  ABCB6  ATP binding cassette subfamily B member 6 (Langereis blood group)  Symbol and/or name change 19259463 PROVISIONAL
2015-12-08 ABCB6  ATP binding cassette subfamily B member 6 (Langereis blood group)    ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)  Symbol and/or name change 5135510 APPROVED
2014-09-04 ABCB6  ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)    ATP-binding cassette, sub-family B (MDR/TAP), member 6  Symbol and/or name change 5135510 APPROVED