LDLRAP1 (low density lipoprotein receptor adaptor protein 1) - Rat Genome Database

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Gene: LDLRAP1 (low density lipoprotein receptor adaptor protein 1) Homo sapiens
Analyze
Symbol: LDLRAP1
Name: low density lipoprotein receptor adaptor protein 1
RGD ID: 1606809
HGNC Page HGNC
Description: Exhibits several functions, including AP-1 adaptor complex binding activity; AP-2 adaptor complex binding activity; and amyloid-beta binding activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and receptor-mediated endocytosis. Localizes to several cellular components, including basal plasma membrane; cytoplasmic side of plasma membrane; and endosome. Implicated in autosomal recessive hypercholesterolemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARH; ARH1; ARH2; autosomal recessive hypercholesterolemia protein; DKFZp586D0624; FHCB1; FHCB2; FHCL4; LDL receptor adaptor protein; low density lipoprotein receptor adapter protein 1; MGC34705
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl125,543,580 - 25,568,886 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl125,543,606 - 25,568,886 (+)EnsemblGRCh38hg38GRCh38
GRCh38125,543,588 - 25,590,400 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37125,870,097 - 25,895,377 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36125,742,663 - 25,767,964 (+)NCBINCBI36hg18NCBI36
Celera124,265,963 - 24,291,423 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef124,124,497 - 24,149,801 (+)NCBIHuRef
CHM1_1125,983,497 - 26,008,795 (+)NCBICHM1_1
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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11326085   PMID:11897284   PMID:12016260   PMID:12221107   PMID:12417523   PMID:12451172   PMID:12464675   PMID:12477932   PMID:12535754   PMID:12746448   PMID:12788851   PMID:12805363  
PMID:14528014   PMID:14702039   PMID:15166224   PMID:15489334   PMID:15497461   PMID:15728179   PMID:16129683   PMID:16189514   PMID:16344560   PMID:16710414   PMID:16870701   PMID:16984970  
PMID:17686643   PMID:17727637   PMID:18417616   PMID:19081568   PMID:19477448   PMID:19841541   PMID:19913121   PMID:20124734   PMID:20237496   PMID:20467437   PMID:20628086   PMID:20686565  
PMID:21444685   PMID:21778424   PMID:21872251   PMID:21873635   PMID:21915095   PMID:22509010   PMID:23510778   PMID:23564733   PMID:24097068   PMID:25225128   PMID:25331956   PMID:25416956  
PMID:25910212   PMID:26186194   PMID:27107012   PMID:27107014   PMID:28257760   PMID:28514442   PMID:28958330   PMID:28963484   PMID:30270081   PMID:30659120   PMID:30876877   PMID:30971288  
PMID:32296183   PMID:32457219   PMID:32694731  


Genomics

Comparative Map Data
LDLRAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl125,543,580 - 25,568,886 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl125,543,606 - 25,568,886 (+)EnsemblGRCh38hg38GRCh38
GRCh38125,543,588 - 25,590,400 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37125,870,097 - 25,895,377 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36125,742,663 - 25,767,964 (+)NCBINCBI36hg18NCBI36
Celera124,265,963 - 24,291,423 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef124,124,497 - 24,149,801 (+)NCBIHuRef
CHM1_1125,983,497 - 26,008,795 (+)NCBICHM1_1
Ldlrap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394134,468,865 - 134,495,342 (-)NCBIGRCm39mm39
GRCm39 Ensembl4134,468,865 - 134,495,335 (-)Ensembl
GRCm384134,741,554 - 134,768,032 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4134,741,554 - 134,768,024 (-)EnsemblGRCm38mm10GRCm38
MGSCv374134,301,327 - 134,323,919 (-)NCBIGRCm37mm9NCBIm37
MGSCv364134,017,498 - 134,040,023 (-)NCBImm8
Celera4132,929,656 - 132,952,236 (-)NCBICelera
Cytogenetic Map4D3NCBI
Ldlrap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25146,955,607 - 146,978,601 (-)NCBI
Rnor_6.0 Ensembl5152,966,591 - 152,987,211 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05152,964,294 - 152,987,286 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05156,742,863 - 156,765,855 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45153,504,535 - 153,527,523 (-)NCBIRGSC3.4rn4RGSC3.4
Celera5145,368,945 - 145,391,939 (-)NCBICelera
Cytogenetic Map5q36NCBI
Ldlrap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554525,081,556 - 5,095,182 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554525,081,919 - 5,102,349 (+)NCBIChiLan1.0ChiLan1.0
LDLRAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1125,871,874 - 25,920,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl125,878,358 - 25,903,336 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0124,809,535 - 24,852,394 (+)NCBIMhudiblu_PPA_v0panPan3
LDLRAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1274,340,272 - 74,363,929 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl274,341,036 - 74,364,162 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha270,914,328 - 70,937,998 (-)NCBI
ROS_Cfam_1.0274,901,453 - 74,925,396 (-)NCBI
UMICH_Zoey_3.1271,724,767 - 71,748,432 (-)NCBI
UNSW_CanFamBas_1.0272,731,525 - 72,755,221 (-)NCBI
UU_Cfam_GSD_1.0273,735,844 - 73,759,564 (-)NCBI
Ldlrap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505844,371,440 - 44,395,584 (+)NCBI
SpeTri2.0NW_00493647410,196,228 - 10,219,137 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LDLRAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl683,030,701 - 83,054,381 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1683,030,629 - 83,054,387 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2676,601,373 - 76,625,132 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LDLRAP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120107,207,363 - 107,232,237 (-)NCBI
Ldlrap1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247649,675,917 - 9,699,597 (+)NCBI

Position Markers
SHGC-74429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,894,653 - 25,894,754UniSTSGRCh37
Build 36125,767,240 - 25,767,341RGDNCBI36
Celera124,290,699 - 24,290,800RGD
Cytogenetic Map1p36-p35UniSTS
HuRef124,149,077 - 24,149,178UniSTS
TNG Radiation Hybrid Map110833.0UniSTS
GeneMap99-GB4 RH Map185.62UniSTS
AL034214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,868,941 - 25,869,105UniSTSGRCh37
Build 36125,741,528 - 25,741,692RGDNCBI36
Celera124,264,828 - 24,264,992RGD
Cytogenetic Map1p36-p35UniSTS
HuRef124,123,362 - 24,123,526UniSTS
SHGC-144355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,892,322 - 25,892,618UniSTSGRCh37
Build 36125,764,909 - 25,765,205RGDNCBI36
Celera124,288,366 - 24,288,662RGD
Cytogenetic Map1p36-p35UniSTS
HuRef124,146,744 - 24,147,040UniSTS
TNG Radiation Hybrid Map110833.0UniSTS
ARH_9459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,894,566 - 25,895,339UniSTSGRCh37
Build 36125,767,153 - 25,767,926RGDNCBI36
Celera124,290,612 - 24,291,385RGD
HuRef124,148,990 - 24,149,763UniSTS
SHGC-74391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,895,111 - 25,895,271UniSTSGRCh37
Build 36125,767,698 - 25,767,858RGDNCBI36
Celera124,291,157 - 24,291,317RGD
Cytogenetic Map1p36-p35UniSTS
HuRef124,149,535 - 24,149,695UniSTS
TNG Radiation Hybrid Map110833.0UniSTS
GeneMap99-GB4 RH Map182.39UniSTS
A009O34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,894,693 - 25,894,846UniSTSGRCh37
Build 36125,767,280 - 25,767,433RGDNCBI36
Celera124,290,739 - 24,290,892RGD
Cytogenetic Map1p36-p35UniSTS
HuRef124,149,117 - 24,149,270UniSTS
GeneMap99-GB4 RH Map185.62UniSTS
NCBI RH Map1142.5UniSTS
G54707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,895,217 - 25,895,266UniSTSGRCh37
Celera124,291,263 - 24,291,312UniSTS
Cytogenetic Map1p36-p35UniSTS
HuRef124,149,641 - 24,149,690UniSTS
G32710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,894,693 - 25,894,846UniSTSGRCh37
Celera124,290,739 - 24,290,892UniSTS
Cytogenetic Map1p36-p35UniSTS
HuRef124,149,117 - 24,149,270UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3061
Count of miRNA genes:999
Interacting mature miRNAs:1247
Transcripts:ENST00000374338, ENST00000462394, ENST00000470950, ENST00000474283, ENST00000484476, ENST00000485476, ENST00000488127
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1976 1735 1491 414 1395 257 3299 796 1835 189 1069 1517 170 862 1893 3
Low 456 1247 232 208 543 207 1056 1397 1866 229 378 88 1 342 895 1
Below cutoff 2 9 8 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_426598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK024397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY389348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX572623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA930479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374338   ⟹   ENSP00000363458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,543,606 - 25,568,886 (+)Ensembl
RefSeq Acc Id: ENST00000462394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,554,881 - 25,557,429 (+)Ensembl
RefSeq Acc Id: ENST00000470950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,564,591 - 25,567,636 (+)Ensembl
RefSeq Acc Id: ENST00000474283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,563,634 - 25,567,570 (+)Ensembl
RefSeq Acc Id: ENST00000484476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,562,816 - 25,567,000 (+)Ensembl
RefSeq Acc Id: ENST00000485476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,549,961 - 25,554,879 (+)Ensembl
RefSeq Acc Id: ENST00000488127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,553,364 - 25,568,884 (+)Ensembl
RefSeq Acc Id: NM_015627   ⟹   NP_056442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,606 - 25,568,886 (+)NCBI
GRCh37125,870,071 - 25,895,377 (+)NCBI
Build 36125,742,663 - 25,767,964 (+)NCBI Archive
HuRef124,124,497 - 24,149,801 (+)ENTREZGENE
CHM1_1125,983,497 - 26,008,795 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710559   ⟹   XP_006710622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710560   ⟹   XP_006710623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710561   ⟹   XP_006710624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541209   ⟹   XP_011539511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541210   ⟹   XP_011539512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541211   ⟹   XP_011539513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541212   ⟹   XP_011539514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000994   ⟹   XP_016856483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,548,891 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000995   ⟹   XP_016856484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,588 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446315   ⟹   XP_024302083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,829 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001737112
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001737113
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956258
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XR_426598
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
RefSeq Acc Id: XR_946602
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,590,400 (+)NCBI
Sequence:
RefSeq Acc Id: XR_946603
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,629 - 25,568,886 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056442   ⟸   NM_015627
- UniProtKB: Q5SW96 (UniProtKB/Swiss-Prot),   B3KR97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710623   ⟸   XM_006710560
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006710624   ⟸   XM_006710561
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006710622   ⟸   XM_006710559
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011539513   ⟸   XM_011541211
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011539514   ⟸   XM_011541212
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011539511   ⟸   XM_011541209
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011539512   ⟸   XM_011541210
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016856484   ⟸   XM_017000995
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016856483   ⟸   XM_017000994
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024302083   ⟸   XM_024446315
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000363458   ⟸   ENST00000374338
Protein Domains
PID

Promoters
RGD ID:6854568
Promoter ID:EPDNEW_H449
Type:initiation region
Name:LDLRAP1_1
Description:low density lipoprotein receptor adaptor protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H450  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,543,607 - 25,543,667EPDNEW
RGD ID:6854570
Promoter ID:EPDNEW_H450
Type:multiple initiation site
Name:LDLRAP1_2
Description:low density lipoprotein receptor adaptor protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H449  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,562,794 - 25,562,854EPDNEW
RGD ID:6785920
Promoter ID:HG_KWN:1427
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000019350
Position:
Human AssemblyChrPosition (strand)Source
Build 36125,742,549 - 25,743,049 (+)MPROMDB
RGD ID:6785921
Promoter ID:HG_KWN:1428
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000101971
Position:
Human AssemblyChrPosition (strand)Source
Build 36125,748,706 - 25,749,527 (+)MPROMDB
RGD ID:6785047
Promoter ID:HG_KWN:1431
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000089940,   UC009VRW.1,   UC009VRX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36125,761,459 - 25,761,959 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015627.3(LDLRAP1):c.653_654inv (p.Thr218Met) inversion Familial hypercholesterolemia 4 [RCV000548072]|not specified [RCV001193303] Chr1:25563697..25563698 [GRCh38]
Chr1:25890188..25890189 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_015627.2(LDLRAP1):c.432_433insA (p.Ala145fs) insertion Familial hypercholesterolemia 4 [RCV000005040] Chr1:25557240..25557241 [GRCh38]
Chr1:25883731..25883732 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.74dup (p.Gly26fs) duplication Familial hypercholesterolemia 4 [RCV000005043] Chr1:25543770..25543771 [GRCh38]
Chr1:25870261..25870262 [GRCh37]
Chr1:1p36.11
pathogenic
LDLRAP1, 1-BP DEL, 71G deletion Hypercholesterolemia, autosomal recessive [RCV000005044] Chr1:1p36-p35 pathogenic
NM_015627.2(LDLRAP1):c.89-1G>C single nucleotide variant Familial hypercholesterolemia 4 [RCV000005045] Chr1:25553921 [GRCh38]
Chr1:25880412 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.2(LDLRAP1):c.459+2T>G single nucleotide variant Familial hypercholesterolemia 4 [RCV000005046] Chr1:25557269 [GRCh38]
Chr1:25883760 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) duplication Familial hypercholesterolemia 4 [RCV000005047]|Familial hypercholesterolemia [RCV001277156] Chr1:25563135..25563136 [GRCh38]
Chr1:25889626..25889627 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.2(LDLRAP1):c.682G>A (p.Ala228Thr) single nucleotide variant Familial hypercholesterolemia [RCV001277160]|not provided [RCV000522381] Chr1:25563726 [GRCh38]
Chr1:25890217 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.65G>A (p.Trp22Ter) single nucleotide variant Familial hypercholesterolemia 4 [RCV000005039] Chr1:25543763 [GRCh38]
Chr1:25870254 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.2(LDLRAP1):c.406C>T (p.Gln136Ter) single nucleotide variant Familial hypercholesterolemia 4 [RCV000005041] Chr1:25557214 [GRCh38]
Chr1:25883705 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.2(LDLRAP1):c.605C>A (p.Ser202Tyr) single nucleotide variant Familial hypercholesterolemia 4 [RCV000005042]|Familial hypercholesterolemia [RCV001275174]|not provided [RCV000587646] Chr1:25563142 [GRCh38]
Chr1:25889633 [GRCh37]
Chr1:1p36.11
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3 copy number gain See cases [RCV000141580] Chr1:25376278..25586537 [GRCh38]
Chr1:25702769..25913028 [GRCh37]
Chr1:25575356..25785615 [NCBI36]
Chr1:1p36.11
benign
GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3 copy number gain See cases [RCV000141440] Chr1:25369211..25940790 [GRCh38]
Chr1:25695702..26267281 [GRCh37]
Chr1:25568289..26139868 [NCBI36]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.604T>C (p.Ser202Pro) single nucleotide variant Familial hypercholesterolemia 4 [RCV000386734]|Familial hypercholesterolemia [RCV001277157]|not specified [RCV000427792] Chr1:25563141 [GRCh38]
Chr1:25889632 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.201G>A (p.Ser67=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000644528] Chr1:25554034 [GRCh38]
Chr1:25880525 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.2(LDLRAP1):c.907G>A (p.Asp303Asn) single nucleotide variant Familial hypercholesterolemia 4 [RCV000795846]|not specified [RCV001264452] Chr1:25566972 [GRCh38]
Chr1:25893463 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.622G>A (p.Ala208Thr) single nucleotide variant Familial hypercholesterolemia 4 [RCV000292490] Chr1:25563666 [GRCh38]
Chr1:25890157 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.284G>A (p.Arg95Gln) single nucleotide variant Familial hypercholesterolemia 4 [RCV001085027]|not provided [RCV000522248] Chr1:25554912 [GRCh38]
Chr1:25881403 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) single nucleotide variant Familial hypercholesterolemia 4 [RCV000457447]|Familial hypercholesterolemia [RCV001277162]|not provided [RCV000589168]|not specified [RCV000418201] Chr1:25563756 [GRCh38]
Chr1:25890247 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_015627.2(LDLRAP1):c.672C>T (p.Ser224=) single nucleotide variant Familial hypercholesterolemia 4 [RCV001079682]|Familial hypercholesterolemia [RCV001275177]|not provided [RCV000589056]|not specified [RCV000434696] Chr1:25563716 [GRCh38]
Chr1:25890207 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.3(LDLRAP1):c.116G>A (p.Arg39Gln) single nucleotide variant Familial hypercholesterolemia 4 [RCV001211681] Chr1:25553949 [GRCh38]
Chr1:25880440 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_015627.2(LDLRAP1):c.604_605delinsCA (p.Ser202His) indel Familial hypercholesterolemia 4 [RCV000229117] Chr1:25563141..25563142 [GRCh38]
Chr1:25889632..25889633 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_015627.2(LDLRAP1):c.654A>G (p.Thr218=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000605456]|Familial hypercholesterolemia [RCV001277159]|not specified [RCV000435861] Chr1:25563698 [GRCh38]
Chr1:25890189 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.*1682C>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000307843] Chr1:25568674 [GRCh38]
Chr1:25895165 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.861C>T (p.Leu287=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000862839]|Familial hypercholesterolemia [RCV001275178] Chr1:25566926 [GRCh38]
Chr1:25893417 [GRCh37]
Chr1:1p36.11
benign|likely benign|uncertain significance
NM_015627.2(LDLRAP1):c.423C>T (p.Leu141=) single nucleotide variant Familial hypercholesterolemia 4 [RCV001080308]|not provided [RCV000862094] Chr1:25557231 [GRCh38]
Chr1:25883722 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.2(LDLRAP1):c.*63G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000340866] Chr1:25567055 [GRCh38]
Chr1:25893546 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.451C>T (p.Arg151Trp) single nucleotide variant Familial hypercholesterolemia 4 [RCV000467758]|not provided [RCV000993951] Chr1:25557259 [GRCh38]
Chr1:25883750 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.375C>T (p.His125=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000356356] Chr1:25557183 [GRCh38]
Chr1:25883674 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1222T>C single nucleotide variant Familial hypercholesterolemia 4 [RCV000278807] Chr1:25568214 [GRCh38]
Chr1:25894705 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.*985_*986insTG insertion Familial hypercholesterolemia 1 [RCV000284930] Chr1:25567977..25567978 [GRCh38]
Chr1:25894468..25894469 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.*63G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000285925] Chr1:25567055 [GRCh38]
Chr1:25893546 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_015627.2(LDLRAP1):c.*1677G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000268970] Chr1:25568669 [GRCh38]
Chr1:25895160 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*810C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000273326] Chr1:25567802 [GRCh38]
Chr1:25894293 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1395C>G single nucleotide variant Familial hypercholesterolemia 4 [RCV000315248] Chr1:25568387 [GRCh38]
Chr1:25894878 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1115C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000375616] Chr1:25568107 [GRCh38]
Chr1:25894598 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_015627.2(LDLRAP1):c.*961A>G single nucleotide variant Familial hypercholesterolemia 4 [RCV000377016] Chr1:25567953 [GRCh38]
Chr1:25894444 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*449del deletion Familial hypercholesterolemia 1 [RCV000356165] Chr1:25567437 [GRCh38]
Chr1:25893928 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.*1040A>C single nucleotide variant Familial hypercholesterolemia 4 [RCV000337569] Chr1:25568032 [GRCh38]
Chr1:25894523 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1370G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000402552] Chr1:25568362 [GRCh38]
Chr1:25894853 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.-46G>C single nucleotide variant Familial hypercholesterolemia 4 [RCV000290178] Chr1:25543653 [GRCh38]
Chr1:25870144 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_015627.2(LDLRAP1):c.*1755C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000320729] Chr1:25568747 [GRCh38]
Chr1:25895238 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.*1515C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000309351] Chr1:25568507 [GRCh38]
Chr1:25894998 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-92G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000295278] Chr1:25543607 [GRCh38]
Chr1:25870098 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*478C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000394768] Chr1:25567470 [GRCh38]
Chr1:25893961 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*506C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000297816] Chr1:25567498 [GRCh38]
Chr1:25893989 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_015627.2(LDLRAP1):c.414C>T (p.Asn138=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000262100] Chr1:25557222 [GRCh38]
Chr1:25883713 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*607G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000276773] Chr1:25567599 [GRCh38]
Chr1:25894090 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.480C>T (p.Thr160=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000277273] Chr1:25562664 [GRCh38]
Chr1:25889155 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1737G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000267935] Chr1:25568729 [GRCh38]
Chr1:25895220 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-105G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000280062] Chr1:25543594 [GRCh38]
Chr1:25870085 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-37T>C single nucleotide variant Familial hypercholesterolemia 4 [RCV000345050] Chr1:25543662 [GRCh38]
Chr1:25870153 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*766dup duplication Familial hypercholesterolemia 1 [RCV000331845] Chr1:25567757..25567758 [GRCh38]
Chr1:25894248..25894249 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.*821T>G single nucleotide variant Familial hypercholesterolemia 4 [RCV000382904] Chr1:25567813 [GRCh38]
Chr1:25894304 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.487C>T (p.Gln163Ter) single nucleotide variant Familial hypercholesterolemia 4 [RCV000332311] Chr1:25562671 [GRCh38]
Chr1:25889162 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.64T>C (p.Trp22Arg) single nucleotide variant Familial hypercholesterolemia 4 [RCV000305568] Chr1:25543762 [GRCh38]
Chr1:25870253 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1430C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000349062] Chr1:25568422 [GRCh38]
Chr1:25894913 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1556A>C single nucleotide variant Familial hypercholesterolemia 4 [RCV000365958] Chr1:25568548 [GRCh38]
Chr1:25895039 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*253G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000404412] Chr1:25567245 [GRCh38]
Chr1:25893736 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-105G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000334865] Chr1:25543594 [GRCh38]
Chr1:25870085 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-70A>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000350133] Chr1:25543629 [GRCh38]
Chr1:25870120 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*804G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000367875] Chr1:25567796 [GRCh38]
Chr1:25894287 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-68G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000405774] Chr1:25543631 [GRCh38]
Chr1:25870122 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1284C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000336236] Chr1:25568276 [GRCh38]
Chr1:25894767 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*868C>G single nucleotide variant Familial hypercholesterolemia 4 [RCV000286197] Chr1:25567860 [GRCh38]
Chr1:25894351 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.-100G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000389402] Chr1:25543599 [GRCh38]
Chr1:25870090 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*535C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000371295] Chr1:25567527 [GRCh38]
Chr1:25894018 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*877C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000324767] Chr1:25567869 [GRCh38]
Chr1:25894360 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*814G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000325993] Chr1:25567806 [GRCh38]
Chr1:25894297 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.45C>T (p.Pro15=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000865393] Chr1:25543743 [GRCh38]
Chr1:25870234 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.2(LDLRAP1):c.*331C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000301334] Chr1:25567323 [GRCh38]
Chr1:25893814 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1718del deletion Familial hypercholesterolemia 1 [RCV000360166] Chr1:25568705 [GRCh38]
Chr1:25895196 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.*1477T>G single nucleotide variant Familial hypercholesterolemia 4 [RCV000396696] Chr1:25568469 [GRCh38]
Chr1:25894960 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.75T>A (p.Gly25=) single nucleotide variant Familial hypercholesterolemia 4 [RCV001088453]|Familial hypercholesterolemia [RCV001273188]|not provided [RCV000863862] Chr1:25543773 [GRCh38]
Chr1:25870264 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.2(LDLRAP1):c.71del (p.Gly24fs) deletion Familial hypercholesterolemia 4 [RCV000560474]|not provided [RCV000993947] Chr1:25543763 [GRCh38]
Chr1:25870254 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_015627.2(LDLRAP1):c.711G>A (p.Pro237=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000472117]|not specified [RCV000605872] Chr1:25563755 [GRCh38]
Chr1:25890246 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.115C>T (p.Arg39Trp) single nucleotide variant Familial hypercholesterolemia 4 [RCV000476274] Chr1:25553948 [GRCh38]
Chr1:25880439 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.870C>T (p.Val290=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000458539] Chr1:25566935 [GRCh38]
Chr1:25893426 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.603_604delinsTC (p.Ser202Pro) indel not provided [RCV000462638] Chr1:25563140..25563141 [GRCh38]
Chr1:25889631..25889632 [GRCh37]
Chr1:1p36.11
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_015627.2(LDLRAP1):c.396C>T (p.Ile132=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000560115]|not specified [RCV000586275] Chr1:25557204 [GRCh38]
Chr1:25883695 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015627.2(LDLRAP1):c.653C>T (p.Thr218Ile) single nucleotide variant Familial hypercholesterolemia 4 [RCV000623146] Chr1:25563697 [GRCh38]
Chr1:25890188 [GRCh37]
Chr1:1p36.11
pathogenic|benign|conflicting interpretations of pathogenicity
NM_015627.2(LDLRAP1):c.713G>A (p.Arg238Gln) single nucleotide variant Familial hypercholesterolemia 4 [RCV000644527] Chr1:25563757 [GRCh38]
Chr1:25890248 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.666G>A (p.Pro222=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000644529] Chr1:25563710 [GRCh38]
Chr1:25890201 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.432C>T (p.His144=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000644530]|not specified [RCV001264559] Chr1:25557240 [GRCh38]
Chr1:25883731 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_015627.2(LDLRAP1):c.849C>T (p.Tyr283=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000644531] Chr1:25566914 [GRCh38]
Chr1:25893405 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.626C>T (p.Thr209Ile) single nucleotide variant Familial hypercholesterolemia 4 [RCV000535580]|Familial hypercholesterolemia [RCV001277158] Chr1:25563670 [GRCh38]
Chr1:25890161 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.906G>A (p.Gln302=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000536520] Chr1:25566971 [GRCh38]
Chr1:25893462 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.863C>T (p.Ser288Leu) single nucleotide variant Familial hypercholesterolemia 4 [RCV000623682] Chr1:25566928 [GRCh38]
Chr1:25893419 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.2(LDLRAP1):c.533A>T (p.Glu178Val) single nucleotide variant not provided [RCV000658205] Chr1:25563070 [GRCh38]
Chr1:25889561 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.11(chr1:25889421-26107499)x3 copy number gain not provided [RCV000684557] Chr1:25889421..26107499 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.344+4C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV000686992]|Familial hypercholesterolemia [RCV001273192] Chr1:25554976 [GRCh38]
Chr1:25881467 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.235A>G (p.Lys79Glu) single nucleotide variant Familial hypercholesterolemia 4 [RCV000688555] Chr1:25554863 [GRCh38]
Chr1:25881354 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.842T>C (p.Met281Thr) single nucleotide variant Familial hypercholesterolemia 4 [RCV000691340] Chr1:25566907 [GRCh38]
Chr1:25893398 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.34A>G (p.Ile12Val) single nucleotide variant Familial hypercholesterolemia 4 [RCV000705502]|Familial hypercholesterolemia [RCV001273187] Chr1:25543732 [GRCh38]
Chr1:25870223 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.11(chr1:25570081-25872197)x1 copy number loss not provided [RCV000736448] Chr1:25570081..25872197 [GRCh37]
Chr1:1p36.11
benign
NM_015627.2(LDLRAP1):c.429C>A (p.Cys143Ter) single nucleotide variant not provided [RCV000760903] Chr1:25557237 [GRCh38]
Chr1:25883728 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.748-4C>A single nucleotide variant Familial hypercholesterolemia 4 [RCV000866306] Chr1:25565169 [GRCh38]
Chr1:25891660 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.6C>T (p.Asp2=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000866222] Chr1:25543704 [GRCh38]
Chr1:25870195 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.702C>T (p.Asp234=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000864909] Chr1:25563746 [GRCh38]
Chr1:25890237 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000866717]|Familial hypercholesterolemia [RCV001273189] Chr1:25543776 [GRCh38]
Chr1:25870267 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_015627.3(LDLRAP1):c.621C>T (p.Val207=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000866728]|Familial hypercholesterolemia [RCV001275175] Chr1:25563665 [GRCh38]
Chr1:25890156 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.532+9T>C single nucleotide variant not provided [RCV000975559] Chr1:25562725 [GRCh38]
Chr1:25889216 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.363A>G (p.Ala121=) single nucleotide variant not provided [RCV000976567] Chr1:25557171 [GRCh38]
Chr1:25883662 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.330C>T (p.Asn110=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000864643] Chr1:25554958 [GRCh38]
Chr1:25881449 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.600C>T (p.Thr200=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000864910] Chr1:25563137 [GRCh38]
Chr1:25889628 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.816G>C (p.Leu272=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000981582] Chr1:25566881 [GRCh38]
Chr1:25893372 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.864G>A (p.Ser288=) single nucleotide variant not provided [RCV000981092] Chr1:25566929 [GRCh38]
Chr1:25893420 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.780G>A (p.Ser260=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000869434] Chr1:25565205 [GRCh38]
Chr1:25891696 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=) single nucleotide variant Familial hypercholesterolemia [RCV001273191]|not provided [RCV000876198] Chr1:25553974 [GRCh38]
Chr1:25880465 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.122C>T (p.Thr41Met) single nucleotide variant Familial hypercholesterolemia 4 [RCV000801208]|Familial hypercholesterolemia [RCV001275112]|not provided [RCV000993949] Chr1:25553955 [GRCh38]
Chr1:25880446 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.227C>G (p.Ala76Gly) single nucleotide variant Familial hypercholesterolemia 4 [RCV000803134] Chr1:25554060 [GRCh38]
Chr1:25880551 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.431dup (p.His144fs) duplication Familial hypercholesterolemia 4 [RCV000819876] Chr1:25557238..25557239 [GRCh38]
Chr1:25883729..25883730 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.2(LDLRAP1):c.397G>A (p.Ala133Thr) single nucleotide variant Familial hypercholesterolemia 4 [RCV000795820]|Familial hypercholesterolemia [RCV001275173] Chr1:25557205 [GRCh38]
Chr1:25883696 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.748-4del deletion not provided [RCV000993953] Chr1:25565166 [GRCh38]
Chr1:25891657 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.571del (p.Asp191fs) deletion Familial hypercholesterolemia 4 [RCV001066390] Chr1:25563105 [GRCh38]
Chr1:25889596 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln) single nucleotide variant Familial hypercholesterolemia 1 [RCV000845488]|Familial hypercholesterolemia 4 [RCV001220985] Chr1:25557260 [GRCh38]
Chr1:25883751 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.811G>A (p.Val271Ile) single nucleotide variant Familial hypercholesterolemia 4 [RCV001240291]|not provided [RCV000993954] Chr1:25566876 [GRCh38]
Chr1:25893367 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1233C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001097198] Chr1:25568225 [GRCh38]
Chr1:25894716 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.2(LDLRAP1):c.710C>T (p.Pro237Leu) single nucleotide variant Familial hypercholesterolemia 4 [RCV000794520]|Familial hypercholesterolemia [RCV001277161] Chr1:25563754 [GRCh38]
Chr1:25890245 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.-59G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001098748] Chr1:25543640 [GRCh38]
Chr1:25870131 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.579G>A (p.Leu193=) single nucleotide variant not provided [RCV000978591] Chr1:25563116 [GRCh38]
Chr1:25889607 [GRCh37]
Chr1:1p36.11
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_015627.2(LDLRAP1):c.617-8C>T single nucleotide variant not provided [RCV000842213] Chr1:25563653 [GRCh38]
Chr1:25890144 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.2(LDLRAP1):c.675G>A (p.Thr225=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000820929] Chr1:25563719 [GRCh38]
Chr1:25890210 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*259C>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001098859] Chr1:25567251 [GRCh38]
Chr1:25893742 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.-80C>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001098746] Chr1:25543619 [GRCh38]
Chr1:25870110 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.11:g.25320307_25719620dup duplication 9q34 microduplication syndrome [RCV000851533] Chr1:25320307..25719620 [GRCh38]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.604_605delinsCG (p.Ser202Arg) indel Familial hypercholesterolemia 4 [RCV001045716] Chr1:25563141..25563142 [GRCh38]
Chr1:25889632..25889633 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.11:g.(?_25543689)_(25557277_?)del deletion Familial hypercholesterolemia 4 [RCV001031355] Chr1:25870180..25883768 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.66G>T (p.Trp22Cys) single nucleotide variant not provided [RCV000993948] Chr1:25543764 [GRCh38]
Chr1:25870255 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.562G>C (p.Glu188Gln) single nucleotide variant Familial hypercholesterolemia 4 [RCV001223851] Chr1:25563099 [GRCh38]
Chr1:25889590 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.673A>G (p.Thr225Ala) single nucleotide variant Familial hypercholesterolemia 4 [RCV001206834]|not provided [RCV001256821] Chr1:25563717 [GRCh38]
Chr1:25890208 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.268_269del (p.Leu90fs) microsatellite Familial hypercholesterolemia 4 [RCV001204336] Chr1:25554894..25554895 [GRCh38]
Chr1:25881385..25881386 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.*803C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001100942] Chr1:25567795 [GRCh38]
Chr1:25894286 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.*941G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001100943] Chr1:25567933 [GRCh38]
Chr1:25894424 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.771A>C (p.Glu257Asp) single nucleotide variant Familial hypercholesterolemia 4 [RCV001097102] Chr1:25565196 [GRCh38]
Chr1:25891687 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1032G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001097196] Chr1:25568024 [GRCh38]
Chr1:25894515 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.-75G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001098747] Chr1:25543624 [GRCh38]
Chr1:25870115 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.267T>C (p.Thr89=) single nucleotide variant not provided [RCV000979887] Chr1:25554895 [GRCh38]
Chr1:25881386 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.390A>G (p.Ala130=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000977276] Chr1:25557198 [GRCh38]
Chr1:25883689 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000863098]|Familial hypercholesterolemia [RCV001273190] Chr1:25553947 [GRCh38]
Chr1:25880438 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000978746]|Familial hypercholesterolemia [RCV001273186] Chr1:25543725 [GRCh38]
Chr1:25870216 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.645A>G (p.Leu215=) single nucleotide variant Familial hypercholesterolemia 4 [RCV000874361]|Familial hypercholesterolemia [RCV001275176] Chr1:25563689 [GRCh38]
Chr1:25890180 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.88+8T>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001100564] Chr1:25543794 [GRCh38]
Chr1:25870285 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*717C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001100674] Chr1:25567709 [GRCh38]
Chr1:25894200 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) duplication Familial hypercholesterolemia 4 [RCV001218974] Chr1:25543762..25543763 [GRCh38]
Chr1:25870253..25870254 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met) single nucleotide variant Familial hypercholesterolemia 4 [RCV001239453] Chr1:25553946 [GRCh38]
Chr1:25880437 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.167C>T (p.Thr56Met) single nucleotide variant Familial hypercholesterolemia 4 [RCV001243577] Chr1:25554000 [GRCh38]
Chr1:25880491 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.733A>T (p.Ser245Cys) single nucleotide variant Familial hypercholesterolemia 4 [RCV001245292] Chr1:25563777 [GRCh38]
Chr1:25890268 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.459+6C>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001241273] Chr1:25557273 [GRCh38]
Chr1:25883764 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.774G>T (p.Ala258=) single nucleotide variant not provided [RCV000935402] Chr1:25565199 [GRCh38]
Chr1:25891690 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.413A>G (p.Asn138Ser) single nucleotide variant not provided [RCV000993950] Chr1:25557221 [GRCh38]
Chr1:25883712 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.537del (p.Glu180fs) deletion not provided [RCV000993952] Chr1:25563072 [GRCh38]
Chr1:25889563 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_015627.3(LDLRAP1):c.110_111AC[1] (p.Thr38fs) microsatellite not provided [RCV001008366] Chr1:25553943..25553944 [GRCh38]
Chr1:25880434..25880435 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_015627.3(LDLRAP1):c.*596C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001100672] Chr1:25567588 [GRCh38]
Chr1:25894079 [GRCh37]
Chr1:1p36.11
benign
NM_015627.3(LDLRAP1):c.*1711G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001100770] Chr1:25568703 [GRCh38]
Chr1:25895194 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.*1824T>C single nucleotide variant Familial hypercholesterolemia 4 [RCV001101032] Chr1:25568816 [GRCh38]
Chr1:25895307 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1375C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001098960] Chr1:25568367 [GRCh38]
Chr1:25894858 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*435A>G single nucleotide variant Familial hypercholesterolemia 4 [RCV001100671] Chr1:25567427 [GRCh38]
Chr1:25893918 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1793C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001100771] Chr1:25568785 [GRCh38]
Chr1:25895276 [GRCh37]
Chr1:1p36.11
benign
NM_015627.3(LDLRAP1):c.276G>A (p.Val92=) single nucleotide variant Familial hypercholesterolemia 4 [RCV001100565] Chr1:25554904 [GRCh38]
Chr1:25881395 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met) single nucleotide variant not specified [RCV001174631] Chr1:25554056 [GRCh38]
Chr1:25880547 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.48C>G (p.Ser16Arg) single nucleotide variant not specified [RCV001175499] Chr1:25543746 [GRCh38]
Chr1:25870237 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.614G>A (p.Ser205Asn) single nucleotide variant Familial hypercholesterolemia 4 [RCV001220268] Chr1:25563151 [GRCh38]
Chr1:25889642 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.747+13G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001097101] Chr1:25563804 [GRCh38]
Chr1:25890295 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1201G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001097197] Chr1:25568193 [GRCh38]
Chr1:25894684 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.533-1G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001050968] Chr1:25563069 [GRCh38]
Chr1:25889560 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_015627.3(LDLRAP1):c.*28G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001098857] Chr1:25567020 [GRCh38]
Chr1:25893511 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*238C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001098858] Chr1:25567230 [GRCh38]
Chr1:25893721 [GRCh37]
Chr1:1p36.11
likely benign
NM_015627.3(LDLRAP1):c.76G>A (p.Gly26Ser) single nucleotide variant Familial hypercholesterolemia 4 [RCV001215123] Chr1:25543774 [GRCh38]
Chr1:25870265 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1880C>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001101033] Chr1:25568872 [GRCh38]
Chr1:25895363 [GRCh37]
Chr1:1p36.11
benign
NM_015627.3(LDLRAP1):c.208G>A (p.Ala70Thr) single nucleotide variant Familial hypercholesterolemia 4 [RCV001207120] Chr1:25554041 [GRCh38]
Chr1:25880532 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*614T>C single nucleotide variant Familial hypercholesterolemia 4 [RCV001100673] Chr1:25567606 [GRCh38]
Chr1:25894097 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*430G>T single nucleotide variant Familial hypercholesterolemia 4 [RCV001098860] Chr1:25567422 [GRCh38]
Chr1:25893913 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.*1794G>A single nucleotide variant Familial hypercholesterolemia 4 [RCV001100772] Chr1:25568786 [GRCh38]
Chr1:25895277 [GRCh37]
Chr1:1p36.11
benign
GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3 copy number gain See cases [RCV001194548] Chr1:25872197..26274156 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs) deletion Familial hypercholesterolemia 4 [RCV001336299] Chr1:25553975 [GRCh38]
Chr1:25880466 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met) single nucleotide variant not specified [RCV001280939] Chr1:25554967 [GRCh38]
Chr1:25881458 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.649G>T (p.Glu217Ter) single nucleotide variant Autosomal recessive inheritance [RCV001292554] Chr1:25563693 [GRCh38]
Chr1:25890184 [GRCh37]
Chr1:1p36.11
pathogenic
NM_015627.3(LDLRAP1):c.871G>T (p.Asp291Tyr) single nucleotide variant Familial hypercholesterolemia 4 [RCV001347097] Chr1:25566936 [GRCh38]
Chr1:25893427 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_015627.3(LDLRAP1):c.656C>G (p.Ala219Gly) single nucleotide variant Familial hypercholesterolemia [RCV001280072] Chr1:25563700 [GRCh38]
Chr1:25890191 [GRCh37]
Chr1:1p36.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18640 AgrOrtholog
COSMIC LDLRAP1 COSMIC
Ensembl Genes ENSG00000157978 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000363458 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374338 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157978 GTEx
HGNC ID HGNC:18640 ENTREZGENE
Human Proteome Map LDLRAP1 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTB/PI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26119 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26119 ENTREZGENE
OMIM 603813 OMIM
  605747 OMIM
Pfam PID_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394641 PharmGKB
PROSITE PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ARH_HUMAN UniProtKB/Swiss-Prot
  B3KR97 ENTREZGENE, UniProtKB/TrEMBL
  Q5SW96 ENTREZGENE
UniProt Secondary A2BHI5 UniProtKB/Swiss-Prot
  Q6TQS9 UniProtKB/Swiss-Prot
  Q8N2Y0 UniProtKB/Swiss-Prot
  Q9UFI9 UniProtKB/Swiss-Prot