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:48
Description: Enables ABC-type iron-sulfur cluster transporter activity and protein homodimerization activity. Involved in several processes, including iron-sulfur cluster export from the mitochondrion; positive regulation of heme biosynthetic process; and positive regulation of iron-sulfur cluster assembly. Located in mitochondrial inner membrane. Implicated in X-linked sideroblastic anemia with ataxia. Biomarker of sideroblastic anemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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; iron-sulfur clusters transporter ABCB7, mitochondrial
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
GRCh38X75,051,048 - 75,156,283 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX75,051,048 - 75,156,732 (-)EnsemblGRCh38hg38GRCh38
GRCh37X74,270,883 - 74,376,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X74,056,127 - 74,159,153NCBI
CeleraX74,556,536 - 74,659,552 (-)NCBICelera
Cytogenetic MapXq13.3NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBIHuRef
CHM1_1X74,165,916 - 74,269,046 (-)NCBICHM1_1
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
mitochondrial inner membrane  (IBA,IDA,IEA,TAS)
mitochondrion  (HTP,IDA,IEA)

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

Human Phenotype
Abducens palsy  (IAGP)
Abnormal basal ganglia MRI signal intensity  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of movement  (IAGP)
Anemia  (IAGP)
Anisocytosis  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Babinski sign  (IAGP)
Basal ganglia gliosis  (IAGP)
Bone marrow hypercellularity  (IAGP)
Brisk reflexes  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Childhood onset  (IAGP)
Clonus  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Delayed ability to walk  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysphonia  (IAGP)
Erythroid hyperplasia  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Howell-Jolly bodies  (IAGP)
Hyperreflexia  (IAGP)
Hypochromic microcytic anemia  (IAGP)
Hypotonia  (IAGP)
Increased bone marrow iron  (IAGP)
Increased erythrocyte protoporphyrin concentration  (IAGP)
Infantile onset  (IAGP)
Intention tremor  (IAGP)
Interictal EEG abnormality  (IAGP)
Intrauterine growth retardation  (IAGP)
Language impairment  (IAGP)
Myoclonus  (IAGP)
Nonprogressive cerebellar ataxia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Organic aciduria  (IAGP)
Pallor  (IAGP)
Pappenheimer bodies  (IAGP)
Poikilocytosis  (IAGP)
Positive Romberg sign  (IAGP)
Postural instability  (IAGP)
Reduced tendon reflexes  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Sideroblastic anemia  (IAGP)
Strabismus  (IAGP)
Target cells  (IAGP)
Weight loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Allikmets R, etal., Hum Mol Genet. 1999 May;8(5):743-9.
2. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Bekri S, etal., Blood. 2000 Nov 1;96(9):3256-64.
3. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. Boultwood J, etal., PLoS One. 2008 Apr 9;3(4):e1970. doi: 10.1371/journal.pone.0001970.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Maguire A, etal., Br J Haematol. 2001 Dec;115(4):910-7.
6. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Savary S, etal., Genomics 1997 Apr 15;41(2):275-8.
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:17192393  
PMID:18029348   PMID:19343046   PMID:20186120   PMID:20301496   PMID:21380928   PMID:21726808   PMID:21832049   PMID:21873635   PMID:22398176   PMID:22655043   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:31871319   PMID:31995728   PMID:32457219   PMID:32628020   PMID:32694731   PMID:32877691   PMID:33060197   PMID:33157103   PMID:33545068   PMID:33689857  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34709727   PMID:34800366   PMID:34861039   PMID:35241646   PMID:35256949   PMID:35439318   PMID:35509820   PMID:35563538  
PMID:35696571   PMID:36114006   PMID:36215168   PMID:37142077   PMID:37223481   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
ABCB7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X75,051,048 - 75,156,283 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX75,051,048 - 75,156,732 (-)EnsemblGRCh38hg38GRCh38
GRCh37X74,270,883 - 74,376,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X74,056,127 - 74,159,153NCBI
CeleraX74,556,536 - 74,659,552 (-)NCBICelera
Cytogenetic MapXq13.3NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBIHuRef
CHM1_1X74,165,916 - 74,269,046 (-)NCBICHM1_1
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)NCBIT2T-CHM13v2.0
Abcb7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X103,324,171 - 103,457,452 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX103,324,263 - 103,457,462 (-)EnsemblGRCm39 Ensembl
GRCm38X104,280,565 - 104,413,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,280,657 - 104,413,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X101,475,904 - 101,609,185 (-)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX91,172,735 - 91,305,783 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX46.58NCBI
Abcb7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X73,361,296 - 73,502,464 (-)NCBIGRCr8
mRatBN7.2X69,295,598 - 69,436,775 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX69,295,552 - 69,436,858 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX70,804,692 - 70,945,868 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X74,304,987 - 74,446,162 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X71,866,179 - 72,007,358 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X75,150,511 - 75,291,950 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX75,150,608 - 75,291,938 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X75,954,591 - 76,094,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X92,280,115 - 92,430,426 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X74,734,492 - 74,838,145 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X74,738,102 - 74,841,298 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X64,304,101 - 64,407,310 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X74,418,754 - 74,521,726 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX74,418,754 - 74,521,726 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X59,542,308 - 59,707,158 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX59,540,916 - 59,707,267 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X57,230,770 - 57,395,118 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X58,850,296 - 59,014,604 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X58,448,856 - 58,613,397 (-)NCBIUU_Cfam_GSD_1.0
Abcb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X43,621,036 - 43,722,688 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366831,222,450 - 1,326,765 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366831,224,703 - 1,326,761 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX60,186,814 - 60,313,064 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X64,633,989 - 64,748,638 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX64,634,079 - 64,701,938 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606716,958,476 - 17,074,666 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcb7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248365,605,831 - 5,766,275 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248365,605,901 - 5,769,488 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCB7
182 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001271696.3(ABCB7):c.1049G>T (p.Arg350Ile) single nucleotide variant Inborn genetic diseases [RCV002748700] ChrX:75071667 [GRCh38]
ChrX:74291502 [GRCh37]
ChrX:Xq13.3		 uncertain 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|not provided
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) single nucleotide variant Sideroblastic Anemia and Ataxia [RCV000292681]|X-linked sideroblastic anemia with ataxia [RCV002492447]|not provided [RCV002055385]|not specified [RCV000123440] ChrX:75112907 [GRCh38]
ChrX:74332742 [GRCh37]
ChrX:Xq13.3		 benign|likely benign
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) single nucleotide variant ABCB7-related disorder [RCV003935179]|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 ABCB7-related disorder [RCV003905184]|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]|X-linked sideroblastic anemia with ataxia [RCV003103730]|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 provided [RCV002055386]|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 ABCB7-related disorder [RCV003947628]|not provided [RCV000900314] 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 ABCB7-related disorder [RCV003955187]|Sideroblastic Anemia and Ataxia [RCV000282088]|not provided [RCV002515374]|not specified [RCV000197659] ChrX:75156152 [GRCh38]
ChrX:74375987 [GRCh37]
ChrX:Xq13.3		 benign|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		 benign|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|conflicting interpretations of pathogenicity
NM_001271696.3(ABCB7):c.246+1G>A single nucleotide variant ABCB7-related disorder [RCV003977541]|Sideroblastic Anemia and Ataxia [RCV000349973]|not provided [RCV000676905]|not specified [RCV000199874] ChrX:75114753 [GRCh38]
ChrX:74334588 [GRCh37]
ChrX:Xq13.3		 benign|likely benign|conflicting interpretations of pathogenicity|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] 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]|X-linked sideroblastic anemia with ataxia [RCV002502415]|not provided [RCV002058832]|not specified [RCV000442877] ChrX:75073677 [GRCh38]
ChrX:74293512 [GRCh37]
ChrX:Xq13.3		 benign|likely benign
NM_001271696.3(ABCB7):c.168+13T>C single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV000395303]|not provided [RCV002058833] ChrX:75156092 [GRCh38]
ChrX:74375927 [GRCh37]
ChrX:Xq13.3		 likely benign|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.246+67A>G single nucleotide variant not provided [RCV001574387] ChrX:75114687 [GRCh38]
ChrX:74334522 [GRCh37]
ChrX:Xq13.3		 likely benign
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 provided [RCV001697775] ChrX:75156171 [GRCh38]
ChrX:74376006 [GRCh37]
ChrX:Xq13.3		 benign|likely benign
NM_001271696.3(ABCB7):c.1950C>G (p.Ala650=) single nucleotide variant not provided [RCV003718238]|not specified [RCV000419364] ChrX:75060316 [GRCh38]
ChrX:74280151 [GRCh37]
ChrX:Xq13.3		 benign|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] 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 provided [RCV003718240]|not specified [RCV000423039] ChrX:75069029 [GRCh38]
ChrX:74288864 [GRCh37]
ChrX:Xq13.3		 benign|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 provided [RCV002526524]|not specified [RCV000481921] ChrX:75069468..75069469 [GRCh38]
ChrX:74289303..74289304 [GRCh37]
ChrX:Xq13.3		 benign|likely benign
NM_001271696.3(ABCB7):c.334-7del deletion not provided [RCV002526510]|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|uncertain significance
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 provided [RCV001707825] ChrX:75114759 [GRCh38]
ChrX:74334594 [GRCh37]
ChrX:Xq13.3		 benign|likely benign
NM_001271696.3(ABCB7):c.1764T>C (p.His588=) single nucleotide variant ABCB7-related disorder [RCV003953093]|not provided [RCV000884926] 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 X-linked sideroblastic anemia with ataxia [RCV003624427]|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
NM_001271696.3(ABCB7):c.333+138_333+142del deletion not provided [RCV001541406] ChrX:75112744..75112748 [GRCh38]
ChrX:74332579..74332583 [GRCh37]
ChrX:Xq13.3		 likely 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 Autism [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.2043+214A>G single nucleotide variant not provided [RCV001668941] ChrX:75060009 [GRCh38]
ChrX:74279844 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.169-117_169-115del microsatellite not provided [RCV001669166] ChrX:75114946..75114948 [GRCh38]
ChrX:74334781..74334783 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1366-114T>C single nucleotide variant not provided [RCV001545760] ChrX:75069568 [GRCh38]
ChrX:74289403 [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 ABCB7-related disorder [RCV003948331]|not provided [RCV000882852] ChrX:75071630 [GRCh38]
ChrX:74291465 [GRCh37]
ChrX:Xq13.3		 benign|likely 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
NM_001271696.3(ABCB7):c.168+69C>G single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001548912]|not provided [RCV001713125] ChrX:75156036 [GRCh38]
ChrX:74375871 [GRCh37]
ChrX:Xq13.3		 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.1922C>T (p.Ser641Leu) single nucleotide variant Inborn genetic diseases [RCV004634246]|not provided [RCV003312772] ChrX:75062341 [GRCh38]
ChrX:74282176 [GRCh37]
ChrX:Xq13.3		 uncertain significance
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 circulating creatine kinase concentration [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]|not provided [RCV001572849] ChrX:75114789 [GRCh38]
ChrX:74334624 [GRCh37]
ChrX:Xq13.3		 benign|likely 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
NM_001271696.3(ABCB7):c.1935+245A>T single nucleotide variant not provided [RCV001608730] ChrX:75062083 [GRCh38]
ChrX:74281918 [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]|not provided [RCV002558660] ChrX:75065099 [GRCh38]
ChrX:74284934 [GRCh37]
ChrX:Xq13.3		 benign|uncertain significance
NC_000023.10:g.(?_73641473)_(74376107_?)dup duplication not provided [RCV003105397] ChrX:73641473..74376107 [GRCh37]
ChrX:Xq13.2-13.3		 likely pathogenic
NM_001271696.3(ABCB7):c.436T>G (p.Phe146Val) single nucleotide variant not provided [RCV003234344] ChrX:75098959 [GRCh38]
ChrX:74318794 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.333+156T>C single nucleotide variant not provided [RCV001564263] ChrX:75112730 [GRCh38]
ChrX:74332565 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2044-34C>T single nucleotide variant not provided [RCV001550366] ChrX:75053619 [GRCh38]
ChrX:74273454 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2044-269C>G single nucleotide variant not provided [RCV001576640] ChrX:75053854 [GRCh38]
ChrX:74273689 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.334-43dup duplication not provided [RCV001577734] ChrX:75099101..75099102 [GRCh38]
ChrX:74318936..74318937 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1659+328A>G single nucleotide variant not provided [RCV001686768] ChrX:75068679 [GRCh38]
ChrX:74288514 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.246+173T>A single nucleotide variant not provided [RCV001599086] ChrX:75114581 [GRCh38]
ChrX:74334416 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1831+199_1831+200dup duplication not provided [RCV001651451] ChrX:75064861..75064862 [GRCh38]
ChrX:74284696..74284697 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1936-76G>C single nucleotide variant not provided [RCV001556848] ChrX:75060406 [GRCh38]
ChrX:74280241 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.453+321A>G single nucleotide variant not provided [RCV001589561] ChrX:75098621 [GRCh38]
ChrX:74318456 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.334-48G>A single nucleotide variant not provided [RCV001718490] ChrX:75099109 [GRCh38]
ChrX:74318944 [GRCh37]
ChrX:Xq13.3		 benign
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 ABCB7-related disorder [RCV003950370]|Inborn genetic diseases [RCV004028389]|not provided [RCV000889413] ChrX:75156268 [GRCh38]
ChrX:74376103 [GRCh37]
ChrX:Xq13.3		 likely benign|uncertain significance
NM_001363821.1(UPRT):c.-379+35C>T single nucleotide variant not provided [RCV001659524] ChrX:75156585 [GRCh38]
ChrX:74376420 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.333+126dup duplication not provided [RCV001656972] ChrX:75112750..75112751 [GRCh38]
ChrX:74332585..74332586 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1832-250A>G single nucleotide variant not provided [RCV001554944] ChrX:75062681 [GRCh38]
ChrX:74282516 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.958A>G (p.Ile320Val) single nucleotide variant not provided [RCV001560783] ChrX:75073763 [GRCh38]
ChrX:74293598 [GRCh37]
ChrX:Xq13.3		 benign|likely benign
NM_001271696.3(ABCB7):c.1660-313T>C single nucleotide variant not provided [RCV001620384] ChrX:75065554 [GRCh38]
ChrX:74285389 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.856-37A>G single nucleotide variant not provided [RCV001550436] ChrX:75073993 [GRCh38]
ChrX:74293828 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1832-266T>A single nucleotide variant not provided [RCV001561616] ChrX:75062697 [GRCh38]
ChrX:74282532 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.169-21A>G single nucleotide variant not provided [RCV001636367] ChrX:75114852 [GRCh38]
ChrX:74334687 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1936-220G>A single nucleotide variant not provided [RCV001722902] ChrX:75060550 [GRCh38]
ChrX:74280385 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1033-209C>G single nucleotide variant not provided [RCV001545423] ChrX:75071892 [GRCh38]
ChrX:74291727 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1831+24C>T single nucleotide variant not provided [RCV001673940] ChrX:75065046 [GRCh38]
ChrX:74284881 [GRCh37]
ChrX:Xq13.3		 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
NC_000023.11:g.75156361G>C single nucleotide variant not provided [RCV001612151] ChrX:75156361 [GRCh38]
ChrX:74376196 [GRCh37]
ChrX:Xq13.3		 benign
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 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 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
NM_001271696.3(ABCB7):c.169-227A>T single nucleotide variant not provided [RCV001540667] ChrX:75115058 [GRCh38]
ChrX:74334893 [GRCh37]
ChrX:Xq13.3		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001271696.3(ABCB7):c.2043+204_2043+206del microsatellite not provided [RCV001717217] ChrX:75060017..75060019 [GRCh38]
ChrX:74279852..74279854 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1831+199dup duplication not provided [RCV001717216] ChrX:75064861..75064862 [GRCh38]
ChrX:74284696..74284697 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1660-51GA[2] microsatellite not provided [RCV001713380] ChrX:75065285..75065288 [GRCh38]
ChrX:74285120..74285123 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.168+220C>A single nucleotide variant not provided [RCV001590856] ChrX:75155885 [GRCh38]
ChrX:74375720 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1366-55G>A single nucleotide variant not provided [RCV001715223] ChrX:75069509 [GRCh38]
ChrX:74289344 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.586+258C>G single nucleotide variant not provided [RCV001617829] ChrX:75076264 [GRCh38]
ChrX:74296099 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.2044-24G>A single nucleotide variant not provided [RCV001592380] ChrX:75053609 [GRCh38]
ChrX:74273444 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.85C>T (p.Arg29Trp) single nucleotide variant not provided [RCV001761123] ChrX:75156188 [GRCh38]
ChrX:74376023 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1032+4A>T single nucleotide variant not provided [RCV001760641] ChrX:75073685 [GRCh38]
ChrX:74293520 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.710A>G (p.Asp237Gly) single nucleotide variant not provided [RCV001763744] ChrX:75075507 [GRCh38]
ChrX:74295342 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1132A>G (p.Asn378Asp) single nucleotide variant not provided [RCV003229899]|not specified [RCV001815122] ChrX:75071584 [GRCh38]
ChrX:74291419 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV001809128] ChrX:75053563 [GRCh38]
ChrX:74273398 [GRCh37]
ChrX:Xq13.3		 uncertain significance
GRCh37/hg19 Xq13.2-13.3(chrX:73321053-74511346)x2 copy number gain not provided [RCV001836512] ChrX:73321053..74511346 [GRCh37]
ChrX:Xq13.2-13.3		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) copy number gain not specified [RCV002053136] ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505) copy number gain not specified [RCV002053147] ChrX:72095006..88455505 [GRCh37]
ChrX:Xq13.2-21.31		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) copy number gain not specified [RCV002053135] ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
NM_001271696.3(ABCB7):c.1366-37G>A single nucleotide variant not provided [RCV002244363] ChrX:75069491 [GRCh38]
ChrX:74289326 [GRCh37]
ChrX:Xq13.3		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001271696.3(ABCB7):c.383T>C (p.Val128Ala) single nucleotide variant not provided [RCV002291990] ChrX:75099012 [GRCh38]
ChrX:74318847 [GRCh37]
ChrX:Xq13.3		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3(chrX:74255362-74509925)x2 copy number gain not provided [RCV002472430] ChrX:74255362..74509925 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV004584290] ChrX:75060245 [GRCh38]
ChrX:74280080 [GRCh37]
ChrX:Xq13.3		 pathogenic
NM_001271696.3(ABCB7):c.65G>C (p.Arg22Pro) single nucleotide variant Inborn genetic diseases [RCV002753148] ChrX:75156208 [GRCh38]
ChrX:74376043 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2152C>A (p.Pro718Thr) single nucleotide variant not provided [RCV002615103] ChrX:75053477 [GRCh38]
ChrX:74273312 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.168+3G>A single nucleotide variant not provided [RCV002858274] ChrX:75156102 [GRCh38]
ChrX:74375937 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.94G>T (p.Val32Phe) single nucleotide variant not provided [RCV002774899] ChrX:75156179 [GRCh38]
ChrX:74376014 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV003033235] ChrX:75156261 [GRCh38]
ChrX:74376096 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.516G>A (p.Ser172=) single nucleotide variant not provided [RCV002838439] ChrX:75076592 [GRCh38]
ChrX:74296427 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.855+18C>T single nucleotide variant not provided [RCV003015527] ChrX:75075344 [GRCh38]
ChrX:74295179 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.723C>T (p.His241=) single nucleotide variant not provided [RCV003011759] ChrX:75075494 [GRCh38]
ChrX:74295329 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.599G>T (p.Arg200Ile) single nucleotide variant Inborn genetic diseases [RCV002836740] ChrX:75075618 [GRCh38]
ChrX:74295453 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.363A>T (p.Ile121=) single nucleotide variant not provided [RCV003033564] ChrX:75099032 [GRCh38]
ChrX:74318867 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1659+15A>G single nucleotide variant not provided [RCV002825555] ChrX:75068992 [GRCh38]
ChrX:74288827 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1659+5T>G single nucleotide variant not provided [RCV002871541] ChrX:75069002 [GRCh38]
ChrX:74288837 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2063G>A (p.Gly688Asp) single nucleotide variant Inborn genetic diseases [RCV002823307] ChrX:75053566 [GRCh38]
ChrX:74273401 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.738G>A (p.Thr246=) single nucleotide variant not provided [RCV002927118] ChrX:75075479 [GRCh38]
ChrX:74295314 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1936-16A>G single nucleotide variant not provided [RCV002820433] ChrX:75060346 [GRCh38]
ChrX:74280181 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1033-19A>G single nucleotide variant not provided [RCV002570168] ChrX:75071702 [GRCh38]
ChrX:74291537 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1565A>G (p.Tyr522Cys) single nucleotide variant not provided [RCV002923239] ChrX:75069101 [GRCh38]
ChrX:74288936 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1315A>C (p.Ile439Leu) single nucleotide variant not provided [RCV002843920] ChrX:75070415 [GRCh38]
ChrX:74290250 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.168+8G>A single nucleotide variant not provided [RCV002591117] ChrX:75156097 [GRCh38]
ChrX:74375932 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1476C>T (p.Ser492=) single nucleotide variant not provided [RCV002592392] ChrX:75069344 [GRCh38]
ChrX:74289179 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1033-4G>C single nucleotide variant not provided [RCV002780717] ChrX:75071687 [GRCh38]
ChrX:74291522 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1968A>G (p.Lys656=) single nucleotide variant not provided [RCV003022388] ChrX:75060298 [GRCh38]
ChrX:74280133 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.540T>G (p.Asp180Glu) single nucleotide variant Inborn genetic diseases [RCV002929910] ChrX:75076568 [GRCh38]
ChrX:74296403 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1936-4G>C single nucleotide variant not provided [RCV002801125] ChrX:75060334 [GRCh38]
ChrX:74280169 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.621C>T (p.Asn207=) single nucleotide variant not provided [RCV002628038] ChrX:75075596 [GRCh38]
ChrX:74295431 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1957G>T (p.Asp653Tyr) single nucleotide variant not provided [RCV003062763] ChrX:75060309 [GRCh38]
ChrX:74280144 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.606A>G (p.Gly202=) single nucleotide variant not provided [RCV002721191] ChrX:75075611 [GRCh38]
ChrX:74295446 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.381T>C (p.Tyr127=) single nucleotide variant not provided [RCV002938905] ChrX:75099014 [GRCh38]
ChrX:74318849 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.333+18_333+21del deletion not provided [RCV002578757] ChrX:75112865..75112868 [GRCh38]
ChrX:74332700..74332703 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.523A>G (p.Met175Val) single nucleotide variant not provided [RCV002601342] ChrX:75076585 [GRCh38]
ChrX:74296420 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.730A>C (p.Arg244=) single nucleotide variant not provided [RCV002720314] ChrX:75075487 [GRCh38]
ChrX:74295322 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1200T>A (p.Ile400=) single nucleotide variant not provided [RCV002770656] ChrX:75071516 [GRCh38]
ChrX:74291351 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1723C>T (p.Pro575Ser) single nucleotide variant not provided [RCV002607045] ChrX:75065178 [GRCh38]
ChrX:74285013 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV003139489] ChrX:75071610 [GRCh38]
ChrX:74291445 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1747A>G (p.Lys583Glu) single nucleotide variant Inborn genetic diseases [RCV003220387] ChrX:75065154 [GRCh38]
ChrX:74284989 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.250C>T (p.Leu84Phe) single nucleotide variant Inborn genetic diseases [RCV003356852] ChrX:75112969 [GRCh38]
ChrX:74332804 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1771A>G (p.Ile591Val) single nucleotide variant not specified [RCV003331761] ChrX:75065130 [GRCh38]
ChrX:74284965 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV003333465] ChrX:75099037 [GRCh38]
ChrX:74318872 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2060G>A (p.Arg687His) single nucleotide variant not provided [RCV003875316] ChrX:75053569 [GRCh38]
ChrX:74273404 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.796G>T (p.Ala266Ser) single nucleotide variant not provided [RCV003570437] ChrX:75075421 [GRCh38]
ChrX:74295256 [GRCh37]
ChrX:Xq13.3		 likely benign
GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1 copy number loss not provided [RCV003483923] ChrX:73620711..90395211 [GRCh37]
ChrX:Xq13.2-21.31		 pathogenic
GRCh37/hg19 Xq13.2-13.3(chrX:73854340-74447413)x2 copy number gain not provided [RCV003483963] ChrX:73854340..74447413 [GRCh37]
ChrX:Xq13.2-13.3		 uncertain significance
GRCh37/hg19 Xq13.3(chrX:74321567-75907003)x3 copy number gain not provided [RCV003485302] ChrX:74321567..75907003 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.534G>C (p.Leu178=) single nucleotide variant not provided [RCV003439670] ChrX:75076574 [GRCh38]
ChrX:74296409 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2132G>A (p.Arg711His) single nucleotide variant ABCB7-related disorder [RCV003399835] ChrX:75053497 [GRCh38]
ChrX:74273332 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.*115_*119del deletion not provided [RCV003439667] ChrX:75053251..75053255 [GRCh38]
ChrX:74273086..74273090 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2201A>C (p.Lys734Thr) single nucleotide variant not provided [RCV003439668] ChrX:75053428 [GRCh38]
ChrX:74273263 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.867C>T (p.Cys289=) single nucleotide variant not provided [RCV003439669] ChrX:75073945 [GRCh38]
ChrX:74293780 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.264A>G (p.Pro88=) single nucleotide variant not provided [RCV003439671] ChrX:75112955 [GRCh38]
ChrX:74332790 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.162C>T (p.Ala54=) single nucleotide variant not provided [RCV003439672] ChrX:75156111 [GRCh38]
ChrX:74375946 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.39C>A (p.Ala13=) single nucleotide variant ABCB7-related disorder [RCV003919236]|not provided [RCV003439673] ChrX:75156234 [GRCh38]
ChrX:74376069 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.814C>T (p.Leu272Phe) single nucleotide variant ABCB7-related disorder [RCV003412460]|Inborn genetic diseases [RCV004636727] ChrX:75075403 [GRCh38]
ChrX:74295238 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.353G>A (p.Arg118Gln) single nucleotide variant not provided [RCV003828201] ChrX:75099042 [GRCh38]
ChrX:74318877 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.557C>A (p.Ala186Glu) single nucleotide variant not provided [RCV003691195] ChrX:75076551 [GRCh38]
ChrX:74296386 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2044-17A>C single nucleotide variant not provided [RCV003691708] ChrX:75053602 [GRCh38]
ChrX:74273437 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.909A>C (p.Thr303=) single nucleotide variant not provided [RCV003824410] ChrX:75073903 [GRCh38]
ChrX:74293738 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1278T>C (p.Phe426=) single nucleotide variant not provided [RCV003714931] ChrX:75070452 [GRCh38]
ChrX:74290287 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.1812A>G (p.Glu604=) single nucleotide variant not provided [RCV003578387] ChrX:75065089 [GRCh38]
ChrX:74284924 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1368C>G (p.Asp456Glu) single nucleotide variant not provided [RCV003688207] ChrX:75069452 [GRCh38]
ChrX:74289287 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1551A>G (p.Leu517=) single nucleotide variant not provided [RCV003578216] ChrX:75069115 [GRCh38]
ChrX:74288950 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.944+10T>A single nucleotide variant not provided [RCV003877127]|not specified [RCV003988163] ChrX:75073858 [GRCh38]
ChrX:74293693 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2204A>C (p.Lys735Thr) single nucleotide variant not provided [RCV003560109] ChrX:75053425 [GRCh38]
ChrX:74273260 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.1614T>C (p.Asp538=) single nucleotide variant not provided [RCV003701132] ChrX:75069052 [GRCh38]
ChrX:74288887 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.168+14G>T single nucleotide variant not provided [RCV003839053] ChrX:75156091 [GRCh38]
ChrX:74375926 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.804A>G (p.Val268=) single nucleotide variant not provided [RCV003816372] ChrX:75075413 [GRCh38]
ChrX:74295248 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.587-5G>A single nucleotide variant not provided [RCV003682008] ChrX:75075635 [GRCh38]
ChrX:74295470 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1738G>A (p.Ala580Thr) single nucleotide variant not provided [RCV003823422] ChrX:75065163 [GRCh38]
ChrX:74284998 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.2022T>C (p.Asp674=) single nucleotide variant not provided [RCV003679585] ChrX:75060244 [GRCh38]
ChrX:74280079 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2256C>T (p.Cys752=) single nucleotide variant not provided [RCV003709975] ChrX:75053373 [GRCh38]
ChrX:74273208 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.855+9A>G single nucleotide variant not provided [RCV003681729] ChrX:75075353 [GRCh38]
ChrX:74295188 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.2055C>T (p.Ala685=) single nucleotide variant not provided [RCV003866155] ChrX:75053574 [GRCh38]
ChrX:74273409 [GRCh37]
ChrX:Xq13.3		 likely benign
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) copy number gain not specified [RCV003986211] ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
NM_001271696.3(ABCB7):c.429G>A (p.Ser143=) single nucleotide variant not provided [RCV003853804] ChrX:75098966 [GRCh38]
ChrX:74318801 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1208-3A>C single nucleotide variant not provided [RCV003870009] ChrX:75070525 [GRCh38]
ChrX:74290360 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2121A>G (p.Thr707=) single nucleotide variant not provided [RCV003684660] ChrX:75053508 [GRCh38]
ChrX:74273343 [GRCh37]
ChrX:Xq13.3		 likely benign
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
GRCh37/hg19 Xq13.2-13.3(chrX:73711735-74359699) copy number gain not specified [RCV003986268] ChrX:73711735..74359699 [GRCh37]
ChrX:Xq13.2-13.3		 pathogenic
NM_001271696.3(ABCB7):c.1102T>C (p.Leu368=) single nucleotide variant not provided [RCV003682374] ChrX:75071614 [GRCh38]
ChrX:74291449 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.249T>C (p.Ala83=) single nucleotide variant not provided [RCV003552074] ChrX:75112970 [GRCh38]
ChrX:74332805 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.117G>T (p.Pro39=) single nucleotide variant not provided [RCV003847505] ChrX:75156156 [GRCh38]
ChrX:74375991 [GRCh37]
ChrX:Xq13.3		 benign
NM_001271696.3(ABCB7):c.454-18A>T single nucleotide variant not provided [RCV003819106] ChrX:75076672 [GRCh38]
ChrX:74296507 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1207+9T>G single nucleotide variant not provided [RCV003820511] ChrX:75071500 [GRCh38]
ChrX:74291335 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.801G>T (p.Leu267Phe) single nucleotide variant not provided [RCV003680790] ChrX:75075416 [GRCh38]
ChrX:74295251 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.325A>G (p.Lys109Glu) single nucleotide variant not provided [RCV003824392] ChrX:75112894 [GRCh38]
ChrX:74332729 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2044-8C>T single nucleotide variant not provided [RCV003864558] ChrX:75053593 [GRCh38]
ChrX:74273428 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1689T>C (p.Tyr563=) single nucleotide variant not provided [RCV003683374] ChrX:75065212 [GRCh38]
ChrX:74285047 [GRCh37]
ChrX:Xq13.3		 likely benign
NM_001271696.3(ABCB7):c.1387C>T (p.Leu463Phe) single nucleotide variant Inborn genetic diseases [RCV004423974] ChrX:75069433 [GRCh38]
ChrX:74289268 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.2210A>G (p.Gln737Arg) single nucleotide variant Inborn genetic diseases [RCV004424053] ChrX:75053419 [GRCh38]
ChrX:74273254 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.593T>C (p.Val198Ala) single nucleotide variant not provided [RCV003887730] ChrX:75075624 [GRCh38]
ChrX:74295459 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.559A>G (p.Thr187Ala) single nucleotide variant Inborn genetic diseases [RCV004424142] ChrX:75076549 [GRCh38]
ChrX:74296384 [GRCh37]
ChrX:Xq13.3		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NC_000023.11:g.(?_66445907)_(78172208_?)dup duplication Xq13q21 duplication [RCV003885331] ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1		 pathogenic
NM_001271696.3(ABCB7):c.551C>T (p.Thr184Ile) single nucleotide variant not provided [RCV004546977] ChrX:75076557 [GRCh38]
ChrX:74296392 [GRCh37]
ChrX:Xq13.3		 likely pathogenic
NM_001271696.3(ABCB7):c.1231G>T (p.Val411Leu) single nucleotide variant X-linked sideroblastic anemia with ataxia [RCV004547420] ChrX:75070499 [GRCh38]
ChrX:74290334 [GRCh37]
ChrX:Xq13.3		 likely pathogenic
NM_001271696.3(ABCB7):c.105C>T (p.Ser35=) single nucleotide variant not specified [RCV003995085] ChrX:75156168 [GRCh38]
ChrX:74376003 [GRCh37]
ChrX:Xq13.3		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001271696.3(ABCB7):c.2225A>G (p.Asn742Ser) single nucleotide variant Inborn genetic diseases [RCV004636479] ChrX:75053404 [GRCh38]
ChrX:74273239 [GRCh37]
ChrX:Xq13.3		 uncertain significance
NM_001271696.3(ABCB7):c.400C>A (p.Pro134Thr) single nucleotide variant Inborn genetic diseases [RCV004642989] ChrX:75098995 [GRCh38]
ChrX:74318830 [GRCh37]
ChrX:Xq13.3		 uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407337074GWAS986050_Hmean corpuscular hemoglobin QTL GWAS986050 (human)1e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)X7510032975100330Human

Markers in Region
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


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
  CP068255 (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

Ensembl Acc Id: ENST00000253577   ⟹   ENSP00000253577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,051,048 - 75,156,283 (-)Ensembl
Ensembl Acc Id: ENST00000339447   ⟹   ENSP00000343849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,282 - 75,156,279 (-)Ensembl
Ensembl Acc Id: ENST00000373394   ⟹   ENSP00000362492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,051,048 - 75,156,283 (-)Ensembl
Ensembl Acc Id: ENST00000469368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,069,056 - 75,071,581 (-)Ensembl
Ensembl Acc Id: ENST00000490858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,464 - 75,062,627 (-)Ensembl
Ensembl Acc Id: ENST00000526404   ⟹   ENSP00000432813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,076,632 - 75,156,732 (-)Ensembl
Ensembl Acc Id: ENST00000529949   ⟹   ENSP00000436586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,445 - 75,156,282 (-)Ensembl
Ensembl Acc Id: ENST00000534524   ⟹   ENSP00000435521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,075,486 - 75,156,286 (-)Ensembl
Ensembl Acc Id: ENST00000534570   ⟹   ENSP00000494779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,065,208 - 75,073,902 (-)Ensembl
Ensembl Acc Id: ENST00000620875   ⟹   ENSP00000479985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,370 - 75,156,272 (-)Ensembl
Ensembl Acc Id: ENST00000643632   ⟹   ENSP00000493617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,076,640 - 75,156,282 (-)Ensembl
Ensembl Acc Id: ENST00000644766   ⟹   ENSP00000493713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,280 - 75,156,286 (-)Ensembl
Ensembl Acc Id: ENST00000645829   ⟹   ENSP00000496526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,293 - 75,156,282 (-)Ensembl
Ensembl Acc Id: ENST00000663420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,053,443 - 75,156,064 (-)Ensembl
Ensembl Acc Id: ENST00000666534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,051,636 - 75,156,022 (-)Ensembl
Ensembl Acc Id: ENST00000669388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX75,063,016 - 75,156,133 (-)Ensembl
Ensembl Acc Id: ENST00000669573   ⟹   ENSP00000499543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)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
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)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
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)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
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)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
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001258625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258626 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258627 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258628 (Get FASTA)   NCBI Sequence Viewer  
  NP_004290 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39865 (Get FASTA)   NCBI Sequence Viewer  
  AAD33045 (Get FASTA)   NCBI Sequence Viewer  
  AAD47141 (Get FASTA)   NCBI Sequence Viewer  
  AAH06323 (Get FASTA)   NCBI Sequence Viewer  
  AAK20173 (Get FASTA)   NCBI Sequence Viewer  
  AAP88920 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33330 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33331 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33332 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33333 (Get FASTA)   NCBI Sequence Viewer  
  BAG50910 (Get FASTA)   NCBI Sequence Viewer  
  BAG57829 (Get FASTA)   NCBI Sequence Viewer  
  CAD97847 (Get FASTA)   NCBI Sequence Viewer  
  EAW98632 (Get FASTA)   NCBI Sequence Viewer  
  EAW98633 (Get FASTA)   NCBI Sequence Viewer  
  EAW98634 (Get FASTA)   NCBI Sequence Viewer  
  EAW98635 (Get FASTA)   NCBI Sequence Viewer  
  EAW98636 (Get FASTA)   NCBI Sequence Viewer  
  EAW98637 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000253577
  ENSP00000253577.3
  ENSP00000343849
  ENSP00000343849.4
  ENSP00000362492
  ENSP00000362492.3
  ENSP00000432813.2
  ENSP00000435521.1
  ENSP00000436586
  ENSP00000436586.1
  ENSP00000479985
  ENSP00000479985.1
  ENSP00000493617.1
  ENSP00000493713.1
  ENSP00000494779.1
  ENSP00000496526.2
  ENSP00000499543.1
GenBank Protein O75027 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004290   ⟸   NM_004299
- Peptide Label: isoform 1
- UniProtKB: A0A0S2Z2Z3 (UniProtKB/TrEMBL),   A0A5F9ZA98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258627   ⟸   NM_001271698
- Peptide Label: isoform 4
- UniProtKB: B4DGL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258626   ⟸   NM_001271697
- Peptide Label: isoform 3
- UniProtKB: A0A5F9ZA98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258625   ⟸   NM_001271696
- Peptide Label: isoform 2
- UniProtKB: Q9UND1 (UniProtKB/Swiss-Prot),   Q9BRE1 (UniProtKB/Swiss-Prot),   Q5VWY8 (UniProtKB/Swiss-Prot),   Q5VWY7 (UniProtKB/Swiss-Prot),   O75345 (UniProtKB/Swiss-Prot),   G3XAC4 (UniProtKB/Swiss-Prot),   Q9UP01 (UniProtKB/Swiss-Prot),   O75027 (UniProtKB/Swiss-Prot),   A0A5F9ZA98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258628   ⟸   NM_001271699
- Peptide Label: isoform 5
- UniProtKB: A0A087WW65 (UniProtKB/TrEMBL),   A0A5F9ZA98 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000479985   ⟸   ENST00000620875
Ensembl Acc Id: ENSP00000253577   ⟸   ENST00000253577
Ensembl Acc Id: ENSP00000362492   ⟸   ENST00000373394
Ensembl Acc Id: ENSP00000494779   ⟸   ENST00000534570
Ensembl Acc Id: ENSP00000435521   ⟸   ENST00000534524
Ensembl Acc Id: ENSP00000343849   ⟸   ENST00000339447
Ensembl Acc Id: ENSP00000499543   ⟸   ENST00000669573
Ensembl Acc Id: ENSP00000493617   ⟸   ENST00000643632
Ensembl Acc Id: ENSP00000493713   ⟸   ENST00000644766
Ensembl Acc Id: ENSP00000432813   ⟸   ENST00000526404
Ensembl Acc Id: ENSP00000496526   ⟸   ENST00000645829
Ensembl Acc Id: ENSP00000436586   ⟸   ENST00000529949
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75027-F1-model_v2 AlphaFold O75027 1-752 view protein structure

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

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 Transcript ENST00000253577 ENTREZGENE
  ENST00000253577.9 UniProtKB/Swiss-Prot
  ENST00000339447 ENTREZGENE
  ENST00000339447.8 UniProtKB/Swiss-Prot
  ENST00000373394 ENTREZGENE
  ENST00000373394.8 UniProtKB/Swiss-Prot
  ENST00000526404.2 UniProtKB/TrEMBL
  ENST00000529949 ENTREZGENE
  ENST00000529949.5 UniProtKB/TrEMBL
  ENST00000534524.5 UniProtKB/TrEMBL
  ENST00000534570.5 UniProtKB/TrEMBL
  ENST00000620875 ENTREZGENE
  ENST00000620875.5 UniProtKB/TrEMBL
  ENST00000643632.1 UniProtKB/TrEMBL
  ENST00000644766.1 UniProtKB/TrEMBL
  ENST00000645829.3 UniProtKB/TrEMBL
  ENST00000669573.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 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
PANTHER ABC TRANSPORTER DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  ABC TRANSPORTER DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  IRON-SULFUR CLUSTERS TRANSPORTER ABCB7, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 ENTREZGENE, UniProtKB/TrEMBL
  ABCB7_HUMAN UniProtKB/Swiss-Prot
  B4DGL8 ENTREZGENE, UniProtKB/TrEMBL
  E9PJR8_HUMAN UniProtKB/TrEMBL
  E9PNQ5_HUMAN UniProtKB/TrEMBL
  G3XAC4 ENTREZGENE
  O75027 ENTREZGENE
  O75345 ENTREZGENE
  Q5VWY7 ENTREZGENE
  Q5VWY8 ENTREZGENE
  Q9BRE1 ENTREZGENE
  Q9UND1 ENTREZGENE
  Q9UP01 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