ABCB7 (ATP binding cassette subfamily B member 7) - Rat Genome Database

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Gene: ABCB7 (ATP binding cassette subfamily B member 7) Homo sapiens
Analyze
Symbol: ABCB7
Name: ATP binding cassette subfamily B member 7
RGD ID: 1351480
HGNC Page HGNC
Description: Predicted to have ATPase-coupled transmembrane transporter activity. Predicted to be involved in cellular iron ion homeostasis and transmembrane transport. Localizes to mitochondrial inner membrane. Implicated in X-linked sideroblastic anemia with ataxia. Biomarker of sideroblastic anemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC transporter 7 protein; ABC7; ASAT; Atm1p; ATP-binding cassette 7; ATP-binding cassette sub-family B member 7; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; EST140535
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX75,051,048 - 75,156,732 (-)EnsemblGRCh38hg38GRCh38
GRCh38X75,051,048 - 75,156,283 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X74,270,883 - 74,376,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBINCBI36hg18NCBI36
Build 34X74,056,127 - 74,159,153NCBI
CeleraX74,556,536 - 74,659,552 (-)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBIHuRef
CHM1_1X74,165,916 - 74,269,046 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8894702   PMID:9621516   PMID:9883897   PMID:11042152   PMID:12477932   PMID:12480705   PMID:14702039   PMID:15146197   PMID:15342556   PMID:15489334   PMID:15772651   PMID:18029348  
PMID:19343046   PMID:20186120   PMID:20301496   PMID:21380928   PMID:21726808   PMID:21832049   PMID:21873635   PMID:22398176   PMID:22810586   PMID:22939629   PMID:23070040   PMID:25063848  
PMID:25609649   PMID:25737280   PMID:25798074   PMID:25921289   PMID:26186194   PMID:26242992   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26618866   PMID:26871637   PMID:26972000  
PMID:27025967   PMID:27211273   PMID:27499296   PMID:27505670   PMID:28190767   PMID:28380382   PMID:28443643   PMID:28718761   PMID:28986522   PMID:29117863   PMID:29180619   PMID:29507755  
PMID:29509190   PMID:29961565   PMID:30021884   PMID:30033366   PMID:30737378   PMID:30765471   PMID:30833792   PMID:31046837   PMID:31056398   PMID:31091453   PMID:31240132   PMID:31772327  
PMID:31995728   PMID:32457219   PMID:32694731   PMID:32877691   PMID:33060197   PMID:33157103  


Genomics

Comparative Map Data
ABCB7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX75,051,048 - 75,156,732 (-)EnsemblGRCh38hg38GRCh38
GRCh38X75,051,048 - 75,156,283 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X74,270,883 - 74,376,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBINCBI36hg18NCBI36
Build 34X74,056,127 - 74,159,153NCBI
CeleraX74,556,536 - 74,659,552 (-)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBIHuRef
CHM1_1X74,165,916 - 74,269,046 (-)NCBICHM1_1
Abcb7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X103,324,171 - 103,457,452 (-)NCBIGRCm39mm39
GRCm39 EnsemblX103,324,263 - 103,457,462 (-)Ensembl
GRCm38X104,280,565 - 104,413,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,280,657 - 104,413,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X101,475,904 - 101,609,185 (-)NCBIGRCm37mm9NCBIm37
CeleraX91,172,735 - 91,305,783 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX46.58NCBI
Abcb7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X69,295,598 - 69,436,775 (-)NCBI
Rnor_6.0 EnsemblX75,150,608 - 75,291,938 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X75,150,511 - 75,291,950 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X75,954,591 - 76,094,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X92,280,115 - 92,430,426 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X92,353,547 - 92,503,859 (-)NCBI
CeleraX70,651,391 - 70,791,324 (-)NCBICelera
Cytogenetic MapXq22NCBI
Abcb7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555621,077,198 - 1,221,061 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555621,079,884 - 1,220,806 (-)NCBIChiLan1.0ChiLan1.0
ABCB7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X74,418,754 - 74,521,726 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX74,418,754 - 74,521,726 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X64,304,101 - 64,407,310 (-)NCBIMhudiblu_PPA_v0panPan3
ABCB7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X58,305,804 - 58,470,827 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX58,306,776 - 58,471,417 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX49,482,770 - 49,647,336 (-)NCBI
ROS_Cfam_1.0X59,542,308 - 59,707,158 (-)NCBI
UMICH_Zoey_3.1X57,230,770 - 57,395,118 (-)NCBI
UNSW_CanFamBas_1.0X58,850,296 - 59,014,604 (-)NCBI
UU_Cfam_GSD_1.0X58,448,856 - 58,613,397 (-)NCBI
Abcb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X43,621,036 - 43,722,688 (+)NCBI
SpeTri2.0NW_0049366831,224,703 - 1,326,761 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX59,998,607 - 60,313,069 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X60,186,559 - 60,313,098 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X68,395,504 - 68,522,015 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCB7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X64,633,989 - 64,748,638 (-)NCBI
ChlSab1.1 EnsemblX64,634,079 - 64,701,938 (-)Ensembl
Abcb7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248365,605,901 - 5,769,488 (+)NCBI

Position Markers
RH102593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,274,478 - 74,274,574UniSTSGRCh37
Build 36X74,191,203 - 74,191,299RGDNCBI36
CeleraX74,557,909 - 74,558,005RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,908,030 - 67,908,126UniSTS
GeneMap99-GB4 RH MapX243.48UniSTS
UniSTS:99415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,301,424 - 74,301,575UniSTSGRCh37
Build 36X74,218,149 - 74,218,300RGDNCBI36
CeleraX74,584,855 - 74,585,006RGD
HuRefX67,935,050 - 67,935,201UniSTS
WI-11286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,273,134 - 74,273,250UniSTSGRCh37
Build 36X74,189,859 - 74,189,975RGDNCBI36
CeleraX74,556,565 - 74,556,681RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,906,686 - 67,906,802UniSTS
GeneMap99-GB4 RH MapX246.77UniSTS
Whitehead-RH MapX203.4UniSTS
ABCB7_2717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,273,010 - 74,273,470UniSTSGRCh37
Build 36X74,189,735 - 74,190,195RGDNCBI36
CeleraX74,556,441 - 74,556,901RGD
HuRefX67,906,562 - 67,907,022UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:674
Count of miRNA genes:464
Interacting mature miRNAs:507
Transcripts:ENST00000253577, ENST00000339447, ENST00000373394, ENST00000469368, ENST00000490858, ENST00000526404, ENST00000529949, ENST00000534524, ENST00000534570
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2292 2016 1485 411 1236 278 4334 1975 1525 329 1127 1598 150 1 1161 2779 6 2
Low 147 973 241 213 715 187 23 220 2209 90 333 15 25 43 9
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA403157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF133659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP228998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ630948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN411218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253577   ⟹   ENSP00000253577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,051,048 - 75,156,283 (-)Ensembl
RefSeq Acc Id: ENST00000339447   ⟹   ENSP00000343849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,282 - 75,156,279 (-)Ensembl
RefSeq Acc Id: ENST00000373394   ⟹   ENSP00000362492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,051,048 - 75,156,283 (-)Ensembl
RefSeq Acc Id: ENST00000469368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,069,056 - 75,071,581 (-)Ensembl
RefSeq Acc Id: ENST00000490858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,464 - 75,062,627 (-)Ensembl
RefSeq Acc Id: ENST00000526404   ⟹   ENSP00000432813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,076,632 - 75,156,732 (-)Ensembl
RefSeq Acc Id: ENST00000529949   ⟹   ENSP00000436586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,445 - 75,156,282 (-)Ensembl
RefSeq Acc Id: ENST00000534524   ⟹   ENSP00000435521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,075,486 - 75,156,286 (-)Ensembl
RefSeq Acc Id: ENST00000534570   ⟹   ENSP00000494779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,065,208 - 75,073,902 (-)Ensembl
RefSeq Acc Id: ENST00000620875   ⟹   ENSP00000479985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,370 - 75,156,272 (-)Ensembl
RefSeq Acc Id: ENST00000643632   ⟹   ENSP00000493617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,076,640 - 75,156,282 (-)Ensembl
RefSeq Acc Id: ENST00000644766   ⟹   ENSP00000493713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,280 - 75,156,286 (-)Ensembl
RefSeq Acc Id: ENST00000645829   ⟹   ENSP00000496526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,293 - 75,156,282 (-)Ensembl
RefSeq Acc Id: ENST00000663420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,443 - 75,156,064 (-)Ensembl
RefSeq Acc Id: ENST00000666534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,051,636 - 75,156,022 (-)Ensembl
RefSeq Acc Id: ENST00000669388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,063,016 - 75,156,133 (-)Ensembl
RefSeq Acc Id: ENST00000669573   ⟹   ENSP00000499543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,053,082 - 75,156,279 (-)Ensembl
RefSeq Acc Id: NM_001271696   ⟹   NP_001258625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,051,048 - 75,156,283 (-)NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBI
CHM1_1X74,165,916 - 74,269,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271697   ⟹   NP_001258626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,051,048 - 75,156,283 (-)NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBI
CHM1_1X74,165,916 - 74,269,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271698   ⟹   NP_001258627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,051,048 - 75,156,283 (-)NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBI
CHM1_1X74,165,916 - 74,269,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271699   ⟹   NP_001258628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,051,048 - 75,156,283 (-)NCBI
GRCh37X74,273,007 - 74,376,175 (-)NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBI
CHM1_1X74,165,916 - 74,269,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004299   ⟹   NP_004290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,051,048 - 75,156,283 (-)NCBI
GRCh37X74,273,007 - 74,376,175 (-)NCBI
Build 36X74,189,830 - 74,292,857 (-)NCBI Archive
HuRefX67,906,559 - 68,010,008 (-)NCBI
CHM1_1X74,165,916 - 74,269,046 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004290   ⟸   NM_004299
- Peptide Label: isoform 1
- UniProtKB: O75027 (UniProtKB/Swiss-Prot),   A0A0S2Z2Z3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258627   ⟸   NM_001271698
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001258626   ⟸   NM_001271697
- Peptide Label: isoform 3
- UniProtKB: O75027 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258625   ⟸   NM_001271696
- Peptide Label: isoform 2
- UniProtKB: O75027 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258628   ⟸   NM_001271699
- Peptide Label: isoform 5
- UniProtKB: A0A087WW65 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000479985   ⟸   ENST00000620875
RefSeq Acc Id: ENSP00000253577   ⟸   ENST00000253577
RefSeq Acc Id: ENSP00000362492   ⟸   ENST00000373394
RefSeq Acc Id: ENSP00000494779   ⟸   ENST00000534570
RefSeq Acc Id: ENSP00000435521   ⟸   ENST00000534524
RefSeq Acc Id: ENSP00000343849   ⟸   ENST00000339447
RefSeq Acc Id: ENSP00000499543   ⟸   ENST00000669573
RefSeq Acc Id: ENSP00000493617   ⟸   ENST00000643632
RefSeq Acc Id: ENSP00000493713   ⟸   ENST00000644766
RefSeq Acc Id: ENSP00000432813   ⟸   ENST00000526404
RefSeq Acc Id: ENSP00000496526   ⟸   ENST00000645829
RefSeq Acc Id: ENSP00000436586   ⟸   ENST00000529949
Promoters
RGD ID:6808453
Promoter ID:HG_KWN:67297
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004299,   UC004ECA.1,   UC010NLS.1,   UC010NLT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X74,292,549 - 74,293,049 (-)MPROMDB
RGD ID:13627482
Promoter ID:EPDNEW_H29017
Type:initiation region
Name:ABCB7_1
Description:ATP binding cassette subfamily B member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,156,282 - 75,156,342EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001271696.3(ABCB7):c.1162G>A (p.Gly388Ser) single nucleotide variant not provided [RCV000519631] ChrX:75071554 [GRCh38]
ChrX:74291389 [GRCh37]
ChrX:Xq13.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000012330]|not provided [RCV000197371] ChrX:75071516 [GRCh38]
ChrX:74291351 [GRCh37]
ChrX:Xq13.3
pathogenic|likely pathogenic
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000012331] ChrX:75070433 [GRCh38]
ChrX:74290268 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000012332] ChrX:75070499 [GRCh38]
ChrX:74290334 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq13.3(chrX:75012979-75197052)x2 copy number gain See cases [RCV000052419] ChrX:75012979..75197052 [GRCh38]
ChrX:74232814..74416887 [GRCh37]
ChrX:74149539..74333612 [NCBI36]
ChrX:Xq13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000114380] ChrX:75075593 [GRCh38]
ChrX:74295428 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000292681]|not specified [RCV000123440] ChrX:75112907 [GRCh38]
ChrX:74332742 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000389257]|not provided [RCV000676903]|not specified [RCV000123441] ChrX:75073874 [GRCh38]
ChrX:74293709 [GRCh37]
ChrX:Xq13.3
benign|likely benign|uncertain significance
NM_001271696.3(ABCB7):c.945-7C>T single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000332395]|X-linked sideroblastic anemia with ataxia [RCV001285826]|not provided [RCV000676902]|not specified [RCV000123442] ChrX:75073783 [GRCh38]
ChrX:74293618 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000271662]|not specified [RCV000123443] ChrX:75065162 [GRCh38]
ChrX:74284997 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.1740A>G (p.Ala580=) single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000359389]|not provided [RCV000676899]|not specified [RCV000123444] ChrX:75065161 [GRCh38]
ChrX:74284996 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.2043+17T>A single nucleotide variant not specified [RCV000123445] ChrX:75060206 [GRCh38]
ChrX:74280041 [GRCh37]
ChrX:Xq13.3
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.2044G>A (p.Gly682Ser) single nucleotide variant Inborn genetic diseases [RCV000623212]|Spinocerebellar ataxia, X-linked [RCV000190539] ChrX:75053585 [GRCh38]
ChrX:74273420 [GRCh37]
ChrX:Xq13.3
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3(chrX:75140475-75296271)x2 copy number gain See cases [RCV000136742] ChrX:75140475..75296271 [GRCh38]
ChrX:74360310..74516106 [GRCh37]
ChrX:74277035..74432831 [NCBI36]
ChrX:Xq13.3
benign
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq13.2-13.3(chrX:74326571-75201094)x2 copy number gain See cases [RCV000143004] ChrX:74326571..75201094 [GRCh38]
ChrX:73546406..74420929 [GRCh37]
ChrX:73463131..74337654 [NCBI36]
ChrX:Xq13.2-13.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004299.4(ABCB7):c.2255C>T (p.Ser752Leu) single nucleotide variant not specified [RCV000200856] ChrX:75053377 [GRCh38]
ChrX:74273212 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.1174A>G (p.Ile392Val) single nucleotide variant not provided [RCV000900314]|not specified [RCV000197111] ChrX:75071542 [GRCh38]
ChrX:74291377 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001271696.3(ABCB7):c.289C>T (p.His97Tyr) single nucleotide variant not provided [RCV000197247] ChrX:75112930 [GRCh38]
ChrX:74332765 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1832-11T>C single nucleotide variant not provided [RCV000197523] ChrX:75062442 [GRCh38]
ChrX:74282277 [GRCh37]
ChrX:Xq13.3
likely pathogenic|uncertain significance
NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg) single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000282088]|not specified [RCV000197659] ChrX:75156152 [GRCh38]
ChrX:74375987 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001271696.3(ABCB7):c.1486C>T (p.Pro496Ser) single nucleotide variant not provided [RCV000198284] ChrX:75069334 [GRCh38]
ChrX:74289169 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_004299.4(ABCB7):c.567G>A (p.Met189Ile) single nucleotide variant not provided [RCV000199106] ChrX:75076544 [GRCh38]
ChrX:74296379 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_004299.4(ABCB7):c.584T>G (p.Ile195Ser) single nucleotide variant not provided [RCV000195532] ChrX:75076527 [GRCh38]
ChrX:74296362 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001271696.3(ABCB7):c.1589A>G (p.Tyr530Cys) single nucleotide variant not provided [RCV000195670] ChrX:75069077 [GRCh38]
ChrX:74288912 [GRCh37]
ChrX:Xq13.3
uncertain significance|not provided
NM_001271696.3(ABCB7):c.1480G>C (p.Glu494Gln) single nucleotide variant not provided [RCV000199243] ChrX:75069340 [GRCh38]
ChrX:74289175 [GRCh37]
ChrX:Xq13.3
likely pathogenic|uncertain significance
NM_001271696.3(ABCB7):c.169-2A>T single nucleotide variant not provided [RCV000195801] ChrX:75114833 [GRCh38]
ChrX:74334668 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.868G>A (p.Gly290Ser) single nucleotide variant not provided [RCV000199533] ChrX:75073944 [GRCh38]
ChrX:74293779 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001271696.3(ABCB7):c.246+1G>A single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000349973]|not provided [RCV000676905]|not specified [RCV000199874] ChrX:75114753 [GRCh38]
ChrX:74334588 [GRCh37]
ChrX:Xq13.3
benign|likely benign|uncertain significance
NM_004299.4(ABCB7):c.2189A>G (p.Lys730Arg) single nucleotide variant not specified [RCV000200080] ChrX:75053443 [GRCh38]
ChrX:74273278 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.1935+5G>C single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000321028]|not provided [RCV001055583] ChrX:75062323 [GRCh38]
ChrX:74282158 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000329081]|not provided [RCV000929914]|not specified [RCV000440720] ChrX:75069328 [GRCh38]
ChrX:74289163 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000381267]|not provided [RCV000676900] ChrX:75070410 [GRCh38]
ChrX:74290245 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001271696.3(ABCB7):c.1032+12A>G single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000289259]|not specified [RCV000442877] ChrX:75073677 [GRCh38]
ChrX:74293512 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.168+13T>C single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000395303] ChrX:75156092 [GRCh38]
ChrX:74375927 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000578445]|not provided [RCV000412721] ChrX:75070495 [GRCh38]
ChrX:74290330 [GRCh37]
ChrX:Xq13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.102T>C (p.Val34=) single nucleotide variant not specified [RCV000441638] ChrX:75156171 [GRCh38]
ChrX:74376006 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1950C>G (p.Ala650=) single nucleotide variant not specified [RCV000419364] ChrX:75060316 [GRCh38]
ChrX:74280151 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.111A>T (p.Ser37=) single nucleotide variant not specified [RCV000429431] ChrX:75156162 [GRCh38]
ChrX:74375997 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.361A>G (p.Ile121Val) single nucleotide variant not provided [RCV000890723]|not specified [RCV000439896] ChrX:75099034 [GRCh38]
ChrX:74318869 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xq13.2-13.3(chrX:73111197-74781209)x3 copy number gain See cases [RCV000445901] ChrX:73111197..74781209 [GRCh37]
ChrX:Xq13.2-13.3
pathogenic
NM_001271696.3(ABCB7):c.1637G>A (p.Arg546Lys) single nucleotide variant not specified [RCV000423039] ChrX:75069029 [GRCh38]
ChrX:74288864 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001271696.3(ABCB7):c.1366-23dup duplication not specified [RCV000481921] ChrX:75069468..75069469 [GRCh38]
ChrX:74289303..74289304 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.334-7del deletion not specified [RCV000478854] ChrX:75099068 [GRCh38]
ChrX:74318903 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq13.3(chrX:74189679-74345183)x3 copy number gain See cases [RCV000510865] ChrX:74189679..74345183 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001271696.3(ABCB7):c.241G>A (p.Ala81Thr) single nucleotide variant not specified [RCV000613081] ChrX:75114759 [GRCh38]
ChrX:74334594 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1764T>C (p.His588=) single nucleotide variant not provided [RCV000884926]|not specified [RCV000610835] ChrX:75065137 [GRCh38]
ChrX:74284972 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001271696.3(ABCB7):c.1203G>A (p.Val401=) single nucleotide variant not specified [RCV000611728] ChrX:75071513 [GRCh38]
ChrX:74291348 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) single nucleotide variant not provided [RCV000676906] ChrX:75114799 [GRCh38]
ChrX:74334634 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001271696.3(ABCB7):c.837G>A (p.Met279Ile) single nucleotide variant not provided [RCV000676904] ChrX:75075380 [GRCh38]
ChrX:74295215 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1739_1740inv (p.Ala580Val) inversion not provided [RCV000676898] ChrX:75065161..75065162 [GRCh38]
ChrX:74284996..74284997 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.1161C>T (p.Val387=) single nucleotide variant not provided [RCV000676901] ChrX:75071555 [GRCh38]
ChrX:74291390 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xq13.2-13.3(chrX:73358441-74340786)x2 copy number gain not provided [RCV000684347] ChrX:73358441..74340786 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74269157-74995370)x3 copy number gain not provided [RCV000753608] ChrX:74269157..74995370 [GRCh37]
ChrX:Xq13.3
benign
GRCh37/hg19 Xq13.3(chrX:74280385-74345938)x3 copy number gain not provided [RCV000753609] ChrX:74280385..74345938 [GRCh37]
ChrX:Xq13.3
benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.1713C>A (p.Ile571=) single nucleotide variant not provided [RCV000916206] ChrX:75065188 [GRCh38]
ChrX:74285023 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1208-8C>T single nucleotide variant not provided [RCV000949448] ChrX:75070530 [GRCh38]
ChrX:74290365 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1208-9C>T single nucleotide variant not provided [RCV000949449] ChrX:75070531 [GRCh38]
ChrX:74290366 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1208-10G>T single nucleotide variant not provided [RCV000949450] ChrX:75070532 [GRCh38]
ChrX:74290367 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1086G>A (p.Thr362=) single nucleotide variant not provided [RCV000882852] ChrX:75071630 [GRCh38]
ChrX:74291465 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.81G>C (p.Leu27=) single nucleotide variant not provided [RCV000925290] ChrX:75156192 [GRCh38]
ChrX:74376027 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.42G>T (p.Ala14=) single nucleotide variant not provided [RCV000924602] ChrX:75156231 [GRCh38]
ChrX:74376066 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001271696.3(ABCB7):c.1935+8A>G single nucleotide variant not provided [RCV000943128] ChrX:75062320 [GRCh38]
ChrX:74282155 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.1199T>C (p.Ile400Thr) single nucleotide variant not provided [RCV000810241] ChrX:75071517 [GRCh38]
ChrX:74291352 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1831+52dup duplication not provided [RCV000838562] ChrX:75065017..75065018 [GRCh38]
ChrX:74284852..74284853 [GRCh37]
ChrX:Xq13.3
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001271696.3(ABCB7):c.*113A>G single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001168049] ChrX:75053257 [GRCh38]
ChrX:74273092 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001167510] ChrX:75114789 [GRCh38]
ChrX:74334624 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.1936-118dup duplication not provided [RCV000830840] ChrX:75060439..75060440 [GRCh38]
ChrX:74280274..74280275 [GRCh37]
ChrX:Xq13.3
benign
NM_001271696.3(ABCB7):c.587-180G>A single nucleotide variant not provided [RCV000837488] ChrX:75075810 [GRCh38]
ChrX:74295645 [GRCh37]
ChrX:Xq13.3
benign
GRCh37/hg19 Xq13.2-13.3(chrX:73801032-74487058)x2 copy number gain not provided [RCV000847344] ChrX:73801032..74487058 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001271696.3(ABCB7):c.1936-7C>T single nucleotide variant not provided [RCV000995964] ChrX:75060337 [GRCh38]
ChrX:74280172 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.466G>A (p.Val156Met) single nucleotide variant not provided [RCV000995965] ChrX:75076642 [GRCh38]
ChrX:74296477 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001168051] ChrX:75065099 [GRCh38]
ChrX:74284934 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1158T>C (p.Ser386=) single nucleotide variant not provided [RCV000933350] ChrX:75071558 [GRCh38]
ChrX:74291393 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV000889413] ChrX:75156268 [GRCh38]
ChrX:74376103 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001168821] ChrX:75071516 [GRCh38]
ChrX:74291351 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1936-3C>G single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001005016] ChrX:75060333 [GRCh38]
ChrX:74280168 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001168050] ChrX:75053556 [GRCh38]
ChrX:74273391 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1487C>T (p.Pro496Leu) single nucleotide variant not provided [RCV001091614] ChrX:75069333 [GRCh38]
ChrX:74289168 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001168820] ChrX:75070500 [GRCh38]
ChrX:74290335 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001271696.3(ABCB7):c.944+3A>G single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001253226] ChrX:75073865 [GRCh38]
ChrX:74293700 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:48 AgrOrtholog
COSMIC ABCB7 COSMIC
Ensembl Genes ENSG00000131269 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253577 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362492 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432813 UniProtKB/TrEMBL
  ENSP00000435521 UniProtKB/TrEMBL
  ENSP00000436586 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479985 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000493617 UniProtKB/TrEMBL
  ENSP00000493713 UniProtKB/TrEMBL
  ENSP00000494779 UniProtKB/TrEMBL
  ENSP00000496526 UniProtKB/TrEMBL
  ENSP00000499543 UniProtKB/TrEMBL
Ensembl Transcript ENST00000253577 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000339447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373394 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526404 UniProtKB/TrEMBL
  ENST00000529949 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000534524 UniProtKB/TrEMBL
  ENST00000534570 UniProtKB/TrEMBL
  ENST00000620875 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000643632 UniProtKB/TrEMBL
  ENST00000644766 UniProtKB/TrEMBL
  ENST00000645829 UniProtKB/TrEMBL
  ENST00000669573 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131269 GTEx
HGNC ID HGNC:48 ENTREZGENE
Human Proteome Map ABCB7 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type_I_exporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22 UniProtKB/Swiss-Prot
NCBI Gene 22 ENTREZGENE
OMIM 300135 OMIM
  301310 OMIM
PANTHER PTHR24221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ABCB7 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WW65 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z2W5_HUMAN UniProtKB/TrEMBL
  A0A0S2Z2Z3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z367_HUMAN UniProtKB/TrEMBL
  A0A0S2Z376_HUMAN UniProtKB/TrEMBL
  A0A2R8Y3N2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y473_HUMAN UniProtKB/TrEMBL
  A0A2R8YF35_HUMAN UniProtKB/TrEMBL
  A0A590UJS8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZA98_HUMAN UniProtKB/TrEMBL
  ABCB7_HUMAN UniProtKB/Swiss-Prot
  B4DGL8_HUMAN UniProtKB/TrEMBL
  E9PJR8_HUMAN UniProtKB/TrEMBL
  E9PNQ5_HUMAN UniProtKB/TrEMBL
  O75027 ENTREZGENE
UniProt Secondary G3XAC4 UniProtKB/Swiss-Prot
  O75345 UniProtKB/Swiss-Prot
  Q5VWY7 UniProtKB/Swiss-Prot
  Q5VWY8 UniProtKB/Swiss-Prot
  Q9BRE1 UniProtKB/Swiss-Prot
  Q9UND1 UniProtKB/Swiss-Prot
  Q9UP01 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCB7  ATP binding cassette subfamily B member 7    ATP-binding cassette, sub-family B (MDR/TAP), member 7  Symbol and/or name change 5135510 APPROVED