ABCA7 (ATP binding cassette subfamily A member 7) - Rat Genome Database

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Gene: ABCA7 (ATP binding cassette subfamily A member 7) Homo sapiens
Analyze
Symbol: ABCA7
Name: ATP binding cassette subfamily A member 7
RGD ID: 1601775
HGNC Page HGNC:37
Description: Enables apolipoprotein A-I receptor activity; phosphatidylcholine floppase activity; and phosphatidylserine floppase activity. Involved in several processes, including amyloid-beta formation; apolipoprotein A-I-mediated signaling pathway; and lipid transport. Located in Golgi apparatus; cell junction; and plasma membrane. Implicated in Alzheimer's disease 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABCA-SSN; ABCX; AD9; ATP-binding cassette sub-family A member 7; ATP-binding cassette, sub-family A (ABC1), member 7; autoantigen SS-N; FLJ40025; macrophage ABC transporter; phospholipid-transporting ATPase ABCA7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,040,107 - 1,065,572 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl191,039,997 - 1,065,572 (+)EnsemblGRCh38hg38GRCh38
GRCh37191,040,106 - 1,065,571 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619991,102 - 1,016,571 (+)NCBINCBI36Build 36hg18NCBI36
Celera19970,935 - 998,554 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19812,691 - 838,952 (+)NCBIHuRef
CHM1_1191,038,376 - 1,065,164 (+)NCBICHM1_1
T2T-CHM13v2.0191,002,776 - 1,030,237 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10873640   PMID:11054552   PMID:11095984   PMID:11355874   PMID:11435699   PMID:12111378   PMID:12917409   PMID:12925201   PMID:14570867   PMID:14592415   PMID:14702039  
PMID:15203218   PMID:15593299   PMID:15930518   PMID:16908670   PMID:18029348   PMID:18676680   PMID:19170196   PMID:19343046   PMID:19625176   PMID:19692168   PMID:19721717   PMID:19913121  
PMID:20628086   PMID:20855565   PMID:21173549   PMID:21460840   PMID:21460841   PMID:21873635   PMID:23324282   PMID:23571587   PMID:23669301   PMID:24064683   PMID:24097981   PMID:24113560  
PMID:24141082   PMID:24162737   PMID:24530172   PMID:24643655   PMID:24743338   PMID:24908168   PMID:25365775   PMID:25665932   PMID:25807283   PMID:26141617   PMID:26260791   PMID:26496610  
PMID:26517904   PMID:26654793   PMID:26923404   PMID:27003212   PMID:27037229   PMID:27037232   PMID:27289440   PMID:27314524   PMID:28298427   PMID:28373057   PMID:28400126   PMID:28447221  
PMID:28477215   PMID:28514442   PMID:28655137   PMID:28789839   PMID:29111006   PMID:29441941   PMID:29589097   PMID:29782324   PMID:30318785   PMID:30903345   PMID:31659653   PMID:31753913  
PMID:31831047   PMID:32039842   PMID:32112171   PMID:32183673   PMID:33221536   PMID:33925691   PMID:33961781   PMID:34090711   PMID:34315543   PMID:34958020   PMID:35034901   PMID:35361255  
PMID:35709878  


Genomics

Comparative Map Data
ABCA7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,040,107 - 1,065,572 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl191,039,997 - 1,065,572 (+)EnsemblGRCh38hg38GRCh38
GRCh37191,040,106 - 1,065,571 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619991,102 - 1,016,571 (+)NCBINCBI36Build 36hg18NCBI36
Celera19970,935 - 998,554 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19812,691 - 838,952 (+)NCBIHuRef
CHM1_1191,038,376 - 1,065,164 (+)NCBICHM1_1
T2T-CHM13v2.0191,002,776 - 1,030,237 (+)NCBIT2T-CHM13v2.0
Abca7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,832,328 - 79,851,406 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,832,328 - 79,851,406 (+)EnsemblGRCm39 Ensembl
GRCm381079,996,453 - 80,015,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,996,494 - 80,015,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,460,360 - 79,478,317 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,400,744 - 79,418,701 (+)NCBIMGSCv36mm8
Celera1081,012,422 - 81,030,379 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Abca7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,691,452 - 9,711,466 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,691,449 - 9,711,425 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,573,976 - 12,592,469 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0714,449,312 - 14,467,805 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0712,310,438 - 12,328,932 (-)NCBIRnor_WKY
Rnor_6.0712,742,433 - 12,762,423 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,742,433 - 12,762,341 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,912,155 - 12,932,147 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,203,983 - 11,222,960 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1711,203,982 - 11,222,960 (-)NCBI
Celera77,867,206 - 7,885,960 (-)NCBICelera
Cytogenetic Map7q11NCBI
Abca7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,815,562 - 6,836,772 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,818,002 - 6,838,177 (-)NCBIChiLan1.0ChiLan1.0
ABCA7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1191,016,829 - 1,042,251 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl191,018,095 - 1,042,104 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01962,811 - 77,897 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ABCA7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,668,371 - 57,684,111 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,667,706 - 57,677,342 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,470,691 - 57,486,228 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,410,598 - 58,426,136 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,410,507 - 58,425,315 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,465,893 - 57,481,504 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02057,945,423 - 57,961,034 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,148,479 - 58,164,018 (-)NCBIUU_Cfam_GSD_1.0
Abca7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,357,348 - 217,374,569 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936588460,308 - 477,382 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCA7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,357,218 - 77,375,180 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,357,161 - 77,375,349 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,621,720 - 77,640,442 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103233590
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16792,684 - 821,522 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6792,783 - 821,375 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660818,035,915 - 8,121,412 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abca7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,573,130 - 7,591,038 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,572,821 - 7,592,428 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCA7
115 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6267
Count of miRNA genes:1059
Interacting mature miRNAs:1356
Transcripts:ENST00000263094, ENST00000433129, ENST00000435683, ENST00000524383, ENST00000524850, ENST00000525073, ENST00000525238, ENST00000525939, ENST00000526885, ENST00000527496, ENST00000529442, ENST00000530092, ENST00000530703, ENST00000531467, ENST00000531478, ENST00000532194, ENST00000533574
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH70510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,038,130 - 1,038,282UniSTSGRCh37
Build 3619989,130 - 989,282RGDNCBI36
Celera19968,963 - 969,115RGD
Cytogenetic Map19p13.3UniSTS
HuRef19810,720 - 810,872UniSTS
GeneMap99-GB4 RH Map1918.58UniSTS
CNN2_8268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,038,278 - 1,039,060UniSTSGRCh37
Build 3619989,278 - 990,060RGDNCBI36
Celera19969,111 - 969,893RGD
HuRef19810,868 - 811,650UniSTS
ABCA7_2692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,065,228 - 1,065,707UniSTSGRCh37
Build 36191,016,228 - 1,016,707RGDNCBI36
Celera19998,211 - 998,690RGD
HuRef19838,609 - 839,088UniSTS
D1S3693  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p15.3-p15.2UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q32.3-q41UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q12UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 475 826 978 193 1573 47 1482 248 985 56 372 1352 157 1 368 753 1 1
Low 1963 2142 746 429 373 416 2872 1927 2736 362 1085 261 18 836 2035 4 1
Below cutoff 1 23 2 2 2 2 3 22 13 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB055390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF140342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF328787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU675136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD629701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC405492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263094   ⟹   ENSP00000263094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,040,107 - 1,065,572 (+)Ensembl
RefSeq Acc Id: ENST00000433129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,039,997 - 1,065,567 (+)Ensembl
RefSeq Acc Id: ENST00000435683   ⟹   ENSP00000465322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,049,415 - 1,065,491 (+)Ensembl
RefSeq Acc Id: ENST00000524383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,064,659 - 1,065,328 (+)Ensembl
RefSeq Acc Id: ENST00000524850   ⟹   ENSP00000431473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,040,120 - 1,042,391 (+)Ensembl
RefSeq Acc Id: ENST00000525073   ⟹   ENSP00000432031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,056,934 - 1,065,569 (+)Ensembl
RefSeq Acc Id: ENST00000525238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,040,118 - 1,042,465 (+)Ensembl
RefSeq Acc Id: ENST00000526885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,040,103 - 1,042,744 (+)Ensembl
RefSeq Acc Id: ENST00000527496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,041,205 - 1,042,104 (+)Ensembl
RefSeq Acc Id: ENST00000529442   ⟹   ENSP00000480811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,056,928 - 1,058,732 (+)Ensembl
RefSeq Acc Id: ENST00000530092   ⟹   ENSP00000437311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,054,076 - 1,055,939 (+)Ensembl
RefSeq Acc Id: ENST00000530703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,040,116 - 1,041,682 (+)Ensembl
RefSeq Acc Id: ENST00000531467   ⟹   ENSP00000433545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,041,202 - 1,042,176 (+)Ensembl
RefSeq Acc Id: ENST00000531478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,064,052 - 1,065,572 (+)Ensembl
RefSeq Acc Id: ENST00000532194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,058,000 - 1,059,263 (+)Ensembl
RefSeq Acc Id: ENST00000533574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,045,532 - 1,047,554 (+)Ensembl
RefSeq Acc Id: ENST00000612569   ⟹   ENSP00000482948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,062,179 - 1,065,458 (+)Ensembl
RefSeq Acc Id: ENST00000673773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,055,985 - 1,065,551 (+)Ensembl
RefSeq Acc Id: NM_019112   ⟹   NP_061985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
GRCh37191,040,102 - 1,065,571 (+)ENTREZGENE
Build 3619991,102 - 1,016,571 (+)NCBI Archive
HuRef19812,691 - 838,952 (+)ENTREZGENE
CHM1_1191,038,376 - 1,065,164 (+)NCBI
T2T-CHM13v2.0191,002,776 - 1,030,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722616   ⟹   XP_006722679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722617   ⟹   XP_006722680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,057,954 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527633   ⟹   XP_011525935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,245 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527634   ⟹   XP_011525936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,056,996 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527635   ⟹   XP_011525937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,057,402 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438044   ⟹   XP_047294000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438045   ⟹   XP_047294001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438046   ⟹   XP_047294002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438047   ⟹   XP_047294003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438048   ⟹   XP_047294004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438049   ⟹   XP_047294005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,042,087 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438051   ⟹   XP_047294007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,064,251 (+)NCBI
RefSeq Acc Id: XM_047438052   ⟹   XP_047294008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,939 (+)NCBI
RefSeq Acc Id: XM_047438053   ⟹   XP_047294009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,713 (+)NCBI
RefSeq Acc Id: XM_047438054   ⟹   XP_047294010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,047,566 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438055   ⟹   XP_047294011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,047,547 - 1,065,572 (+)NCBI
RefSeq Acc Id: XM_047438056   ⟹   XP_047294012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,054,866 (+)NCBI
RefSeq Acc Id: XR_007066538
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,236 (+)NCBI
RefSeq Acc Id: XR_936149
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,908 (+)NCBI
Sequence:
RefSeq Acc Id: XR_936152
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,696 (+)NCBI
Sequence:
RefSeq Acc Id: XR_936154
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,107 - 1,058,236 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_061985 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722679 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722680 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525935 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525936 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525937 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294000 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294001 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294002 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294003 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294004 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294005 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294007 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294008 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294009 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294010 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294011 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294012 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF06727 (Get FASTA)   NCBI Sequence Viewer  
  AAF85794 (Get FASTA)   NCBI Sequence Viewer  
  AAK00959 (Get FASTA)   NCBI Sequence Viewer  
  AAN04657 (Get FASTA)   NCBI Sequence Viewer  
  BAB62294 (Get FASTA)   NCBI Sequence Viewer  
  BAG53455 (Get FASTA)   NCBI Sequence Viewer  
  BAG62707 (Get FASTA)   NCBI Sequence Viewer  
  CAB70762 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43618 (Get FASTA)   NCBI Sequence Viewer  
  EAW69556 (Get FASTA)   NCBI Sequence Viewer  
  EAW69557 (Get FASTA)   NCBI Sequence Viewer  
  EAW69558 (Get FASTA)   NCBI Sequence Viewer  
  EAW69559 (Get FASTA)   NCBI Sequence Viewer  
  EAW69560 (Get FASTA)   NCBI Sequence Viewer  
  EAW69561 (Get FASTA)   NCBI Sequence Viewer  
  EAW69562 (Get FASTA)   NCBI Sequence Viewer  
  EAW69563 (Get FASTA)   NCBI Sequence Viewer  
  EAW69564 (Get FASTA)   NCBI Sequence Viewer  
  Q8IZY2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_061985   ⟸   NM_019112
- UniProtKB: Q9UKP8 (UniProtKB/Swiss-Prot),   Q8IZY2 (UniProtKB/Swiss-Prot),   B3KUJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722679   ⟸   XM_006722616
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006722680   ⟸   XM_006722617
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011525935   ⟸   XM_011527633
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011525937   ⟸   XM_011527635
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011525936   ⟸   XM_011527634
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: ENSP00000437311   ⟸   ENST00000530092
RefSeq Acc Id: ENSP00000433545   ⟸   ENST00000531467
RefSeq Acc Id: ENSP00000482948   ⟸   ENST00000612569
RefSeq Acc Id: ENSP00000431473   ⟸   ENST00000524850
RefSeq Acc Id: ENSP00000432031   ⟸   ENST00000525073
RefSeq Acc Id: ENSP00000263094   ⟸   ENST00000263094
RefSeq Acc Id: ENSP00000465322   ⟸   ENST00000435683
RefSeq Acc Id: ENSP00000480811   ⟸   ENST00000529442
RefSeq Acc Id: XP_047294003   ⟸   XM_047438047
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047294004   ⟸   XM_047438048
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047294001   ⟸   XM_047438045
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047294000   ⟸   XM_047438044
- Peptide Label: isoform X1
- UniProtKB: Q9UKP8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294002   ⟸   XM_047438046
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047294007   ⟸   XM_047438051
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047294008   ⟸   XM_047438052
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047294009   ⟸   XM_047438053
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047294012   ⟸   XM_047438056
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047294005   ⟸   XM_047438049
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047294011   ⟸   XM_047438055
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047294010   ⟸   XM_047438054
- Peptide Label: isoform X13
Protein Domains
ABC transporter   ATPase_AAA_core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IZY2-F1-model_v2 AlphaFold Q8IZY2 1-2146 view protein structure

Promoters
RGD ID:6795076
Promoter ID:HG_KWN:28356
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_019112,   UC010DSA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3619990,281 - 991,192 (+)MPROMDB
RGD ID:6795078
Promoter ID:HG_KWN:28357
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC010DSB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3619993,131 - 993,631 (+)MPROMDB
RGD ID:7237773
Promoter ID:EPDNEW_H24631
Type:initiation region
Name:ABCA7_1
Description:ATP binding cassette subfamily A member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24632  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,040,116 - 1,040,176EPDNEW
RGD ID:7237771
Promoter ID:EPDNEW_H24632
Type:initiation region
Name:ABCA7_2
Description:ATP binding cassette subfamily A member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24631  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,041,223 - 1,041,283EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3
pathogenic
NM_019112.3(ABCA7):c.4599G>A (p.Ser1533=) single nucleotide variant Malignant melanoma [RCV000071913] Chr19:1056919 [GRCh38]
Chr19:1056918 [GRCh37]
Chr19:1007918 [NCBI36]
Chr19:19p13.3
not provided
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3 copy number gain See cases [RCV000140186] Chr19:1039558..1161676 [GRCh38]
Chr19:1039557..1161675 [GRCh37]
Chr19:990557..1112675 [NCBI36]
Chr19:19p13.3
likely benign
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.2473C>G (p.Arg825Gly) single nucleotide variant not provided [RCV001394444] Chr19:1049358 [GRCh38]
Chr19:1049357 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) deletion Alzheimer disease 9 [RCV000210926]|Primary degenerative dementia of the Alzheimer type, presenile onset [RCV001090097]|not provided [RCV000762228] Chr19:1047509..1047515 [GRCh38]
Chr19:1047508..1047514 [GRCh37]
Chr19:19p13.3
risk factor|conflicting interpretations of pathogenicity|uncertain significance
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter) single nucleotide variant Alzheimer disease 9 [RCV000210928]|not provided [RCV000918717]|not specified [RCV000239042] Chr19:1054256 [GRCh38]
Chr19:1054255 [GRCh37]
Chr19:19p13.3
risk factor|likely benign|uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
NM_019112.4(ABCA7):c.3711C>T (p.Arg1237=) single nucleotide variant not provided [RCV000585191] Chr19:1054326 [GRCh38]
Chr19:1054325 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.4795G>A (p.Val1599Met) single nucleotide variant not provided [RCV000585516] Chr19:1057344 [GRCh38]
Chr19:1057343 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) deletion not provided [RCV000415942] Chr19:1055909 [GRCh38]
Chr19:1055908 [GRCh37]
Chr19:19p13.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.4189C>T (p.Arg1397Cys) single nucleotide variant not provided [RCV000512942] Chr19:1055335 [GRCh38]
Chr19:1055334 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.5037G>A (p.Glu1679=) single nucleotide variant not provided [RCV000513239] Chr19:1058157 [GRCh38]
Chr19:1058156 [GRCh37]
Chr19:19p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_019112.4(ABCA7):c.1621G>A (p.Val541Met) single nucleotide variant not provided [RCV000513552] Chr19:1046405 [GRCh38]
Chr19:1046404 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.5570+5G>C single nucleotide variant Alzheimer disease 9 [RCV002249387]|not provided [RCV000658811] Chr19:1061893 [GRCh38]
Chr19:1061892 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance
NM_019112.4(ABCA7):c.2639G>A (p.Arg880Gln) single nucleotide variant not provided [RCV000658810] Chr19:1051007 [GRCh38]
Chr19:1051006 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_019112.4(ABCA7):c.3147+9C>T single nucleotide variant not provided [RCV000917695] Chr19:1052135 [GRCh38]
Chr19:1052134 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:990891-1192769)x3 copy number gain not provided [RCV000752476] Chr19:990891..1192769 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.1186_1196del (p.Leu396fs) deletion not provided [RCV000882291] Chr19:1044709..1044719 [GRCh38]
Chr19:1044708..1044718 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.3710G>A (p.Arg1237His) single nucleotide variant not provided [RCV000882292] Chr19:1054325 [GRCh38]
Chr19:1054324 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.495C>T (p.Arg165=) single nucleotide variant not provided [RCV000901584] Chr19:1042394 [GRCh38]
Chr19:1042393 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2963-9C>T single nucleotide variant not provided [RCV000880684] Chr19:1051933 [GRCh38]
Chr19:1051932 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.3148-4G>A single nucleotide variant not provided [RCV000929566] Chr19:1052210 [GRCh38]
Chr19:1052209 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2703C>T (p.His901=) single nucleotide variant not provided [RCV000899191] Chr19:1051173 [GRCh38]
Chr19:1051172 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.160+10C>G single nucleotide variant not provided [RCV000929565] Chr19:1041613 [GRCh38]
Chr19:1041612 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.5963G>T (p.Cys1988Phe) single nucleotide variant not provided [RCV000927546] Chr19:1064172 [GRCh38]
Chr19:1064171 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2176G>T (p.Asp726Tyr) single nucleotide variant not provided [RCV000899390] Chr19:1047561 [GRCh38]
Chr19:1047560 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.6252G>A (p.Glu2084=) single nucleotide variant not provided [RCV000926703] Chr19:1065138 [GRCh38]
Chr19:1065137 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.2559C>T (p.Ile853=) single nucleotide variant not provided [RCV000982435] Chr19:1050927 [GRCh38]
Chr19:1050926 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2068-4G>T single nucleotide variant not provided [RCV000982462] Chr19:1047449 [GRCh38]
Chr19:1047448 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2274G>C (p.Gln758His) single nucleotide variant not provided [RCV000971667] Chr19:1048899 [GRCh38]
Chr19:1048898 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.5092C>T (p.Arg1698Trp) single nucleotide variant Flexion contracture [RCV001007788] Chr19:1058212 [GRCh38]
Chr19:1058211 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.3076C>T (p.Arg1026Cys) single nucleotide variant Flexion contracture [RCV001007830] Chr19:1052055 [GRCh38]
Chr19:1052054 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.2126_2132del (p.Glu709fs) deletion not provided [RCV000908111] Chr19:1047509..1047515 [GRCh38]
Chr19:1047508..1047514 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.1929C>T (p.Ser643=) single nucleotide variant not provided [RCV000980555] Chr19:1047240 [GRCh38]
Chr19:1047239 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.1241C>G (p.Ala414Gly) single nucleotide variant not provided [RCV000962601] Chr19:1045027 [GRCh38]
Chr19:1045026 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.240C>T (p.Thr80=) single nucleotide variant not provided [RCV000942054] Chr19:1041910 [GRCh38]
Chr19:1041909 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.6369G>A (p.Ala2123=) single nucleotide variant not provided [RCV000979667] Chr19:1065353 [GRCh38]
Chr19:1065352 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.318A>G (p.Leu106=) single nucleotide variant not provided [RCV000916421] Chr19:1042079 [GRCh38]
Chr19:1042078 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.4514G>A (p.Arg1505His) single nucleotide variant not provided [RCV000959515] Chr19:1056427 [GRCh38]
Chr19:1056426 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.4886C>T (p.Ser1629Leu) single nucleotide variant not provided [RCV000887765] Chr19:1057920 [GRCh38]
Chr19:1057919 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.579+5G>A single nucleotide variant not provided [RCV000888029] Chr19:1042831 [GRCh38]
Chr19:1042830 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.1061T>C (p.Met354Thr) single nucleotide variant not provided [RCV000888030] Chr19:1044590 [GRCh38]
Chr19:1044589 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter) single nucleotide variant Frontotemporal dementia [RCV001090095]|not provided [RCV002223988] Chr19:1058155 [GRCh38]
Chr19:1058154 [GRCh37]
Chr19:19p13.3
likely pathogenic|risk factor
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NM_019112.4(ABCA7):c.1445+9A>T single nucleotide variant not provided [RCV000942488] Chr19:1045240 [GRCh38]
Chr19:1045239 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.4880+11dup duplication not provided [RCV000938517] Chr19:1057435..1057436 [GRCh38]
Chr19:1057434..1057435 [GRCh37]
Chr19:19p13.3
benign
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_019112.4(ABCA7):c.2358C>T (p.Cys786=) single nucleotide variant not provided [RCV000959514] Chr19:1048983 [GRCh38]
Chr19:1048982 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_019112.4(ABCA7):c.5755G>T (p.Ala1919Ser) single nucleotide variant not provided [RCV000891667] Chr19:1063586 [GRCh38]
Chr19:1063585 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.4561A>C (p.Lys1521Gln) single nucleotide variant Alzheimer disease 9 [RCV001196633] Chr19:1056474 [GRCh38]
Chr19:1056473 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.6253G>A (p.Asp2085Asn) single nucleotide variant Alzheimer disease 9 [RCV001196634] Chr19:1065139 [GRCh38]
Chr19:1065138 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.2026G>A (p.Ala676Thr) single nucleotide variant not provided [RCV001653443] Chr19:1047337 [GRCh38]
Chr19:1047336 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.4896G>A (p.Pro1632=) single nucleotide variant not provided [RCV000979272] Chr19:1057930 [GRCh38]
Chr19:1057929 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2685-4G>T single nucleotide variant not provided [RCV000885339] Chr19:1051151 [GRCh38]
Chr19:1051150 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.4199G>A (p.Arg1400His) single nucleotide variant not provided [RCV000938516] Chr19:1055345 [GRCh38]
Chr19:1055344 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.1732_1775del (p.Arg578fs) deletion not provided [RCV000967488] Chr19:1046908..1046951 [GRCh38]
Chr19:1046907..1046950 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.5309G>A (p.Gly1770Glu) single nucleotide variant not provided [RCV000888254] Chr19:1058849 [GRCh38]
Chr19:1058848 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.1902C>T (p.Ala634=) single nucleotide variant not provided [RCV000980277] Chr19:1047213 [GRCh38]
Chr19:1047212 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.3727-6C>T single nucleotide variant not provided [RCV000963961] Chr19:1054564 [GRCh38]
Chr19:1054563 [GRCh37]
Chr19:19p13.3
likely benign|conflicting interpretations of pathogenicity
NM_019112.4(ABCA7):c.4188G>A (p.Pro1396=) single nucleotide variant not provided [RCV000928652] Chr19:1055334 [GRCh38]
Chr19:1055333 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.3530G>A (p.Arg1177Gln) single nucleotide variant not provided [RCV000938514] Chr19:1054063 [GRCh38]
Chr19:1054062 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.3730G>A (p.Val1244Met) single nucleotide variant not provided [RCV000938515] Chr19:1054573 [GRCh38]
Chr19:1054572 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.98T>C (p.Leu33Pro) single nucleotide variant not provided [RCV000887764] Chr19:1041541 [GRCh38]
Chr19:1041540 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.1766C>T (p.Ala589Val) single nucleotide variant not provided [RCV000910921] Chr19:1046945 [GRCh38]
Chr19:1046944 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.5713-7C>T single nucleotide variant not provided [RCV000921396] Chr19:1063537 [GRCh38]
Chr19:1063536 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2046C>T (p.Pro682=) single nucleotide variant not provided [RCV000910524] Chr19:1047357 [GRCh38]
Chr19:1047356 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.303-4C>G single nucleotide variant not provided [RCV000910962] Chr19:1042060 [GRCh38]
Chr19:1042059 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.4509G>A (p.Pro1503=) single nucleotide variant not provided [RCV000957805] Chr19:1056422 [GRCh38]
Chr19:1056421 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.3851+10G>A single nucleotide variant not provided [RCV000889156] Chr19:1054704 [GRCh38]
Chr19:1054703 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.455C>T (p.Pro152Leu) single nucleotide variant not provided [RCV000957801] Chr19:1042354 [GRCh38]
Chr19:1042353 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.723C>T (p.Tyr241=) single nucleotide variant not provided [RCV000957802] Chr19:1043184 [GRCh38]
Chr19:1043183 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.3472+4C>T single nucleotide variant not provided [RCV000957803] Chr19:1053840 [GRCh38]
Chr19:1053839 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.4401T>C (p.Ala1467=) single nucleotide variant not provided [RCV000957804] Chr19:1056228 [GRCh38]
Chr19:1056227 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.2007G>A (p.Leu669=) single nucleotide variant not provided [RCV000911531] Chr19:1047318 [GRCh38]
Chr19:1047317 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
NM_019112.4(ABCA7):c.2153A>C (p.Asn718Thr) single nucleotide variant not provided [RCV001720394] Chr19:1047538 [GRCh38]
Chr19:1047537 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.563A>G (p.Glu188Gly) single nucleotide variant not provided [RCV001637296] Chr19:1042810 [GRCh38]
Chr19:1042809 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.1388G>A (p.Arg463His) single nucleotide variant not provided [RCV001657012] Chr19:1045174 [GRCh38]
Chr19:1045173 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.4045C>T (p.Arg1349Trp) single nucleotide variant Flexion contracture [RCV001007831] Chr19:1055191 [GRCh38]
Chr19:1055190 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.5401-18A>G single nucleotide variant not provided [RCV001684886] Chr19:1059005 [GRCh38]
Chr19:1059004 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.2385G>A (p.Leu795=) single nucleotide variant not provided [RCV001665766] Chr19:1049270 [GRCh38]
Chr19:1049269 [GRCh37]
Chr19:19p13.3
benign
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3
pathogenic
NM_019112.4(ABCA7):c.5057A>G (p.Gln1686Arg) single nucleotide variant not provided [RCV001642064] Chr19:1058177 [GRCh38]
Chr19:1058176 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.1048C>T (p.Arg350Trp) single nucleotide variant not provided [RCV001171935] Chr19:1044577 [GRCh38]
Chr19:1044576 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.1838T>C (p.Val613Ala) single nucleotide variant not provided [RCV001358107] Chr19:1047017 [GRCh38]
Chr19:1047016 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.913C>T (p.Arg305Trp) single nucleotide variant not provided [RCV001354538] Chr19:1043456 [GRCh38]
Chr19:1043455 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.592C>T (p.Arg198Cys) single nucleotide variant not provided [RCV001496668] Chr19:1043053 [GRCh38]
Chr19:1043052 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2745A>G (p.Val915=) single nucleotide variant not provided [RCV001643541] Chr19:1051215 [GRCh38]
Chr19:1051214 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.6133G>T (p.Ala2045Ser) single nucleotide variant not provided [RCV001680782] Chr19:1065019 [GRCh38]
Chr19:1065018 [GRCh37]
Chr19:19p13.3
benign
NM_019112.4(ABCA7):c.3448T>A (p.Cys1150Ser) single nucleotide variant not provided [RCV001400721] Chr19:1053812 [GRCh38]
Chr19:1053811 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.2929G>A (p.Gly977Ser) single nucleotide variant not specified [RCV002271912] Chr19:1051553 [GRCh38]
Chr19:1051552 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.2535dup (p.Gly846fs) duplication not specified [RCV002271836] Chr19:1049418..1049419 [GRCh38]
Chr19:1049417..1049418 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.679G>A (p.Val227Ile) single nucleotide variant Alzheimer disease 9 [RCV001771689] Chr19:1043140 [GRCh38]
Chr19:1043139 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.5876G>A (p.Ser1959Asn) single nucleotide variant Alzheimer disease 9 [RCV001771690] Chr19:1063788 [GRCh38]
Chr19:1063787 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.3578-2A>G single nucleotide variant not specified [RCV001797936] Chr19:1054191 [GRCh38]
Chr19:1054190 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.2451T>C (p.Pro817=) single nucleotide variant not provided [RCV001815845] Chr19:1049336 [GRCh38]
Chr19:1049335 [GRCh37]
Chr19:19p13.3
likely benign
NM_019112.4(ABCA7):c.3782del (p.Pro1261fs) deletion Alzheimer disease 9 [RCV001810082] Chr19:1054624 [GRCh38]
Chr19:1054623 [GRCh37]
Chr19:19p13.3
risk factor
NM_019112.4(ABCA7):c.5926C>A (p.Arg1976Ser) single nucleotide variant Alzheimer disease 9 [RCV001809229] Chr19:1063838 [GRCh38]
Chr19:1063837 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.6377_6383dup (p.Pro2129fs) duplication Alzheimer disease 9 [RCV001809230] Chr19:1065360..1065361 [GRCh38]
Chr19:1065359..1065360 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.2638C>T (p.Arg880Trp) single nucleotide variant Alzheimer disease 9 [RCV001809228] Chr19:1051006 [GRCh38]
Chr19:1051005 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys) single nucleotide variant Alzheimer disease 9 [RCV001810081] Chr19:1046955 [GRCh38]
Chr19:1046954 [GRCh37]
Chr19:19p13.3
risk factor
NM_019112.4(ABCA7):c.161-2A>T single nucleotide variant Alzheimer disease 9 [RCV001823499] Chr19:1041829 [GRCh38]
Chr19:1041828 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_1050900)_(1242628_?)dup duplication not provided [RCV001917717] Chr19:1050900..1242628 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del deletion Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.5860A>C (p.Thr1954Pro) single nucleotide variant not provided [RCV002224670] Chr19:1063772 [GRCh38]
Chr19:1063771 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.1009dup (p.Thr337fs) duplication not provided [RCV002224766] Chr19:1043802..1043803 [GRCh38]
Chr19:1043801..1043802 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.1504G>A (p.Gly502Ser) single nucleotide variant not provided [RCV002224550] Chr19:1046288 [GRCh38]
Chr19:1046287 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.4718G>A (p.Gly1573Asp) single nucleotide variant not provided [RCV002224582] Chr19:1057038 [GRCh38]
Chr19:1057037 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.1622+2_1622+3del microsatellite not provided [RCV002224763] Chr19:1046405..1046406 [GRCh38]
Chr19:1046404..1046405 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.1337_1338del (p.Ser446fs) microsatellite not provided [RCV002224770] Chr19:1045121..1045122 [GRCh38]
Chr19:1045120..1045121 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.1426A>C (p.Thr476Pro) single nucleotide variant not provided [RCV002224645] Chr19:1045212 [GRCh38]
Chr19:1045211 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.1048-2A>C single nucleotide variant not provided [RCV002224767] Chr19:1044575 [GRCh38]
Chr19:1044574 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.273del (p.Arg93fs) deletion not provided [RCV002224771] Chr19:1041941 [GRCh38]
Chr19:1041940 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.4007G>A (p.Trp1336Ter) single nucleotide variant not provided [RCV002224756] Chr19:1055153 [GRCh38]
Chr19:1055152 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.2326G>T (p.Gly776Ter) single nucleotide variant not provided [RCV002224757] Chr19:1048951 [GRCh38]
Chr19:1048950 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_019112.4(ABCA7):c.6122A>C (p.Glu2041Ala) single nucleotide variant not specified [RCV002222908] Chr19:1065008 [GRCh38]
Chr19:1065007 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.3397G>A (p.Gly1133Arg) single nucleotide variant Alzheimer disease 9 [RCV002244223] Chr19:1053505 [GRCh38]
Chr19:1053504 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_019112.4(ABCA7):c.5069T>C (p.Ile1690Thr) single nucleotide variant not provided [RCV002263128] Chr19:1058189 [GRCh38]
Chr19:1058188 [GRCh37]
Chr19:19p13.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37 AgrOrtholog
COSMIC ABCA7 COSMIC
Ensembl Genes ENSG00000064687 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263094 ENTREZGENE
  ENSP00000263094.6 UniProtKB/Swiss-Prot
  ENSP00000431473.1 UniProtKB/TrEMBL
  ENSP00000432031.2 UniProtKB/TrEMBL
  ENSP00000433545.1 UniProtKB/TrEMBL
  ENSP00000437311.2 UniProtKB/TrEMBL
  ENSP00000465322.2 UniProtKB/TrEMBL
  ENSP00000480811.1 UniProtKB/TrEMBL
  ENSP00000482948.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000263094 ENTREZGENE
  ENST00000263094.11 UniProtKB/Swiss-Prot
  ENST00000435683.7 UniProtKB/TrEMBL
  ENST00000524850.5 UniProtKB/TrEMBL
  ENST00000525073.6 UniProtKB/TrEMBL
  ENST00000529442.7 UniProtKB/TrEMBL
  ENST00000530092.2 UniProtKB/TrEMBL
  ENST00000531467.5 UniProtKB/TrEMBL
  ENST00000612569.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064687 GTEx
HGNC ID HGNC:37 ENTREZGENE
Human Proteome Map ABCA7 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCA7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10347 ENTREZGENE
OMIM 605414 OMIM
  608907 OMIM
PANTHER PTHR19229 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19229:SF49 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA_21 UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24382 PharmGKB
PROSITE 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
UniProt A0A087WX86_HUMAN UniProtKB/TrEMBL
  A0A087WZX6_HUMAN UniProtKB/TrEMBL
  A0A6E1ZGS3_HUMAN UniProtKB/TrEMBL
  ABCA7_HUMAN UniProtKB/Swiss-Prot
  B3KUJ3 ENTREZGENE, UniProtKB/TrEMBL
  D6W5Y0_HUMAN UniProtKB/TrEMBL
  E9PKG5_HUMAN UniProtKB/TrEMBL
  E9PL63_HUMAN UniProtKB/TrEMBL
  H0YCN5_HUMAN UniProtKB/TrEMBL
  H0YF58_HUMAN UniProtKB/TrEMBL
  L8EB07_HUMAN UniProtKB/TrEMBL
  Q8IZY2 ENTREZGENE
  Q9UKP8 ENTREZGENE
UniProt Secondary Q96S58 UniProtKB/Swiss-Prot
  Q9BZC4 UniProtKB/Swiss-Prot
  Q9NR73 UniProtKB/Swiss-Prot
  Q9UKP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ABCA7  ATP binding cassette subfamily A member 7    ATP-binding cassette, sub-family A (ABC1), member 7  Symbol and/or name change 5135510 APPROVED
2011-08-17 ABCA7  ATP-binding cassette, sub-family A (ABC1), member 7  ABCA7  ATP-binding cassette, sub-family A (ABC1), member 7  Symbol and/or name change 5135510 APPROVED