HABP2 (hyaluronan binding protein 2) - Rat Genome Database

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Gene: HABP2 (hyaluronan binding protein 2) Homo sapiens
Analyze
Symbol: HABP2
Name: hyaluronan binding protein 2
RGD ID: 1350340
HGNC Page HGNC
Description: Enables peptidase activity. Acts upstream of or within proteolysis. Predicted to be active in extracellular space. Implicated in thrombophilia due to thrombin defect and thyroid gland papillary carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: factor seven-activating protease; factor VII activating protein; factor VII-activating protease; FSAP; HABP; hepatocyte growth factor activator-like protein; HGFAL; hyaluronan-binding protein 2; hyaluronic acid binding protein 2; NMTC5; PHBP; plasma hyaluronan binding protein; plasma hyaluronan-binding protein
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 Ensembl10113,550,837 - 113,589,602 (+)EnsemblGRCh38hg38GRCh38
GRCh3810113,550,831 - 113,589,602 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710115,310,590 - 115,349,361 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610115,302,775 - 115,339,348 (+)NCBINCBI36hg18NCBI36
Build 3410115,302,774 - 115,339,348NCBI
Celera10109,038,189 - 109,076,960 (+)NCBI
Cytogenetic Map10q25.3NCBI
HuRef10108,937,907 - 108,976,483 (+)NCBIHuRef
CHM1_110115,592,554 - 115,631,328 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1724753   PMID:9443814   PMID:11217080   PMID:11379758   PMID:12386823   PMID:12437095   PMID:12452440   PMID:12477932   PMID:12578864   PMID:14718574   PMID:15164054   PMID:15342556  
PMID:15486068   PMID:15489334   PMID:15543324   PMID:15654766   PMID:15933067   PMID:16153533   PMID:16332249   PMID:16385451   PMID:16461761   PMID:17003923   PMID:17145954   PMID:17479202  
PMID:17482622   PMID:17540775   PMID:18278202   PMID:18394684   PMID:19105210   PMID:19446554   PMID:19817990   PMID:19913121   PMID:20042707   PMID:20045910   PMID:20301327   PMID:20532885  
PMID:20558613   PMID:20628086   PMID:21071862   PMID:21098215   PMID:21600885   PMID:21655671   PMID:21737124   PMID:21873635   PMID:22116096   PMID:22235940   PMID:22308306   PMID:22383781  
PMID:22409238   PMID:22449009   PMID:22850287   PMID:22906531   PMID:22989567   PMID:23341458   PMID:23575879   PMID:24075769   PMID:24497464   PMID:25370187   PMID:25847894   PMID:26222560  
PMID:26258071   PMID:26691890   PMID:26732560   PMID:26745718   PMID:26832773   PMID:26906432   PMID:27073188   PMID:27245704   PMID:27462075   PMID:27530615   PMID:27873212   PMID:28089742  
PMID:28222214   PMID:28246168   PMID:28402931   PMID:28418605   PMID:28501930   PMID:28548975   PMID:28726978   PMID:28881271   PMID:29178989   PMID:29665850   PMID:29895015   PMID:29927903  
PMID:30070759   PMID:30076961   PMID:30561431   PMID:31635523   PMID:31698750   PMID:31831842   PMID:31914657   PMID:32087413  


Genomics

Comparative Map Data
HABP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10113,550,837 - 113,589,602 (+)EnsemblGRCh38hg38GRCh38
GRCh3810113,550,831 - 113,589,602 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710115,310,590 - 115,349,361 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610115,302,775 - 115,339,348 (+)NCBINCBI36hg18NCBI36
Build 3410115,302,774 - 115,339,348NCBI
Celera10109,038,189 - 109,076,960 (+)NCBI
Cytogenetic Map10q25.3NCBI
HuRef10108,937,907 - 108,976,483 (+)NCBIHuRef
CHM1_110115,592,554 - 115,631,328 (+)NCBICHM1_1
Habp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391956,275,541 - 56,309,252 (+)NCBIGRCm39mm39
GRCm39 Ensembl1956,275,569 - 56,309,254 (+)Ensembl
GRCm381956,287,109 - 56,320,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1956,287,137 - 56,320,822 (+)EnsemblGRCm38mm10GRCm38
MGSCv371956,362,428 - 56,394,579 (+)NCBIGRCm37mm9NCBIm37
MGSCv361956,341,188 - 56,373,339 (+)NCBImm8
MGSCv361956,317,036 - 56,350,438 (+)NCBImm8
Celera1958,478,410 - 58,507,476 (+)NCBICelera
Cytogenetic Map19D2NCBI
Habp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21255,315,870 - 255,350,161 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1277,068,761 - 277,104,566 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01277,068,715 - 277,104,567 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01284,451,912 - 284,486,018 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41262,556,446 - 262,591,500 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11262,767,490 - 262,802,545 (+)NCBI
Celera1251,017,452 - 251,051,641 (+)NCBICelera
Cytogenetic Map1q55NCBI
Habp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543118,572,690 - 18,604,059 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543118,572,690 - 18,604,399 (+)NCBIChiLan1.0ChiLan1.0
HABP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110113,580,321 - 113,616,818 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10113,580,321 - 113,616,810 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v010110,146,311 - 110,182,871 (+)NCBIMhudiblu_PPA_v0panPan3
HABP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12824,489,665 - 24,522,336 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2824,489,773 - 24,522,263 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2824,641,006 - 24,673,772 (+)NCBI
ROS_Cfam_1.02825,021,508 - 25,054,218 (+)NCBI
UMICH_Zoey_3.12824,578,909 - 24,611,633 (+)NCBI
UNSW_CanFamBas_1.02824,586,609 - 24,619,368 (+)NCBI
UU_Cfam_GSD_1.02824,786,098 - 24,818,844 (+)NCBI
Habp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721321,556,142 - 21,573,552 (-)NCBI
SpeTri2.0NW_0049364863,987,746 - 4,004,632 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HABP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14123,893,989 - 123,932,962 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114123,893,990 - 123,929,445 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214135,129,981 - 135,165,441 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HABP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19106,435,439 - 106,472,967 (+)NCBI
ChlSab1.1 Ensembl9106,436,685 - 106,474,544 (+)Ensembl
Vero_WHO_p1.0NW_02366604867,651,040 - 67,688,214 (+)NCBI
Habp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473732,963,943 - 32,997,789 (-)NCBI

Position Markers
A007I48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,349,073 - 115,349,326UniSTSGRCh37
Build 3610115,339,063 - 115,339,316RGDNCBI36
Celera10109,076,672 - 109,076,925RGD
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map10q24-q26UniSTS
HuRef10108,976,195 - 108,976,448UniSTS
GeneMap99-GB4 RH Map10516.56UniSTS
D10S2159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,348,314 - 115,348,508UniSTSGRCh37
Build 3610115,338,304 - 115,338,498RGDNCBI36
Celera10109,075,913 - 109,076,107RGD
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map10q24-q26UniSTS
HuRef10108,975,436 - 108,975,630UniSTS
TNG Radiation Hybrid Map1056170.0UniSTS
Stanford-G3 RH Map105255.0UniSTS
NCBI RH Map101234.5UniSTS
GeneMap99-G3 RH Map105491.0UniSTS
D10S2202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,330,412 - 115,330,661UniSTSGRCh37
Build 3610115,320,402 - 115,320,651RGDNCBI36
Celera10109,058,006 - 109,058,255RGD
Cytogenetic Map10q25.3UniSTS
HuRef10108,957,528 - 108,957,777UniSTS
Whitehead-YAC Contig Map10 UniSTS
HABP2__6689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710115,348,606 - 115,349,378UniSTSGRCh37
Build 3610115,338,596 - 115,339,368RGDNCBI36
Celera10109,076,205 - 109,076,977RGD
HuRef10108,975,728 - 108,976,500UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1793
Count of miRNA genes:686
Interacting mature miRNAs:782
Transcripts:ENST00000351270, ENST00000460714, ENST00000537906, ENST00000541666, ENST00000542051
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 1 1 1 1
Medium 52 2 432 432 2 433 1 121 20 41 1
Low 288 149 30 11 40 12 263 266 295 169 221 164 1 10 202
Below cutoff 1308 2374 894 128 751 8 2868 1478 2482 72 931 960 120 844 1998 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA484932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI373912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY534754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP340909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D49742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC413026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000351270   ⟹   ENSP00000277903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10113,553,053 - 113,589,602 (+)Ensembl
RefSeq Acc Id: ENST00000460714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10113,567,484 - 113,570,158 (+)Ensembl
RefSeq Acc Id: ENST00000542051   ⟹   ENSP00000443283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10113,550,837 - 113,589,602 (+)Ensembl
RefSeq Acc Id: NM_001177660   ⟹   NP_001171131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,550,831 - 113,589,602 (+)NCBI
GRCh3710115,310,590 - 115,349,361 (+)ENTREZGENE
HuRef10108,937,907 - 108,976,483 (+)ENTREZGENE
CHM1_110115,592,554 - 115,631,328 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004132   ⟹   NP_004123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,553,053 - 113,589,602 (+)NCBI
GRCh3710115,310,590 - 115,349,361 (+)ENTREZGENE
Build 3610115,302,775 - 115,339,348 (+)NCBI Archive
HuRef10108,937,907 - 108,976,483 (+)ENTREZGENE
CHM1_110115,594,701 - 115,631,328 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001171131   ⟸   NM_001177660
- Peptide Label: isoform 2
- UniProtKB: Q14520 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004123   ⟸   NM_004132
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q14520 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000443283   ⟸   ENST00000542051
RefSeq Acc Id: ENSP00000277903   ⟸   ENST00000351270
Protein Domains
EGF-like   Ig-like   Kringle   Link   Peptidase S1

Promoters
RGD ID:7218709
Promoter ID:EPDNEW_H15099
Type:initiation region
Name:HABP2_1
Description:hyaluronan binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810113,553,055 - 113,553,115EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) single nucleotide variant FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM [RCV000006338]|Factor VII Marburg I Variant Thrombophilia [RCV000286268]|THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO [RCV000190487]|Venous thromboembolism, susceptibility to [RCV000006340] Chr10:113588287 [GRCh38]
Chr10:115348046 [GRCh37]
Chr10:10q25.3
pathogenic|risk factor|benign|likely benign
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 copy number loss See cases [RCV000052570] Chr10:107191100..118761489 [GRCh38]
Chr10:108950858..120521001 [GRCh37]
Chr10:108940848..120510991 [NCBI36]
Chr10:10q25.1-26.11
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
NM_004132.3(HABP2):c.1128G>A (p.Gly376=) single nucleotide variant Malignant melanoma [RCV000062000] Chr10:113583249 [GRCh38]
Chr10:115343008 [GRCh37]
Chr10:115332998 [NCBI36]
Chr10:10q25.3
not provided
NM_004132.3(HABP2):c.69+2141T>G single nucleotide variant Lung cancer [RCV000108674] Chr10:113555331 [GRCh38]
Chr10:115315090 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_006175.4(NRAP):c.4599C>T (p.Val1533=) single nucleotide variant Malignant melanoma [RCV000068803] Chr10:113590830 [GRCh38]
Chr10:115350589 [GRCh37]
Chr10:115340579 [NCBI36]
Chr10:10q25.3
not provided
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1 copy number loss See cases [RCV000135960] Chr10:112074094..115537174 [GRCh38]
Chr10:113833852..117032437 [GRCh37]
Chr10:113823842..117286674 [NCBI36]
Chr10:10q25.2-25.3
pathogenic
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 copy number gain See cases [RCV000137511] Chr10:112701186..120970617 [GRCh38]
Chr10:114460945..122730130 [GRCh37]
Chr10:114450935..122720120 [NCBI36]
Chr10:10q25.2-26.12
likely pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1 copy number loss See cases [RCV000139783] Chr10:110804735..114884010 [GRCh38]
Chr10:112564493..116643769 [GRCh37]
Chr10:112554483..116633759 [NCBI36]
Chr10:10q25.2-25.3
likely pathogenic
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_004132.5(HABP2):c.752C>T (p.Ala251Val) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000284254] Chr10:113580606 [GRCh38]
Chr10:115340365 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1555G>A (p.Gly519Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000321532] Chr10:113588241 [GRCh38]
Chr10:115348000 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1030G>A (p.Gly344Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000368744] Chr10:113582067 [GRCh38]
Chr10:115341826 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*418C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000394120] Chr10:113588787 [GRCh38]
Chr10:115348546 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*235C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000322635] Chr10:113588604 [GRCh38]
Chr10:115348363 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1095-6T>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000369911] Chr10:113583210 [GRCh38]
Chr10:115342969 [GRCh37]
Chr10:10q25.3
likely benign|uncertain significance
NM_004132.5(HABP2):c.-3A>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000270195] Chr10:113553119 [GRCh38]
Chr10:115312878 [GRCh37]
Chr10:10q25.3
likely benign|uncertain significance
NM_004132.5(HABP2):c.*365A>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000348220] Chr10:113588734 [GRCh38]
Chr10:115348493 [GRCh37]
Chr10:10q25.3
likely benign|uncertain significance
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000399498]|not provided [RCV000950753] Chr10:113581984 [GRCh38]
Chr10:115341743 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_001177660.3(HABP2):c.-10+2090T>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000399909] Chr10:113553051 [GRCh38]
Chr10:115312810 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.*258C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000288482] Chr10:113588627 [GRCh38]
Chr10:115348386 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001177660.3(HABP2):c.-10+2091T>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000305895] Chr10:113553052 [GRCh38]
Chr10:115312811 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.*527C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000349161] Chr10:113588896 [GRCh38]
Chr10:115348655 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.568+9C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000374086]|not provided [RCV000947284] Chr10:113578154 [GRCh38]
Chr10:115337913 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.*1160G>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000350609] Chr10:113589529 [GRCh38]
Chr10:115349288 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.905G>A (p.Gly302Glu) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000308139] Chr10:113581942 [GRCh38]
Chr10:115341701 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1048G>A (p.Ala350Thr) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000274089] Chr10:113582085 [GRCh38]
Chr10:115341844 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.957G>A (p.Lys319=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000309209] Chr10:113581994 [GRCh38]
Chr10:115341753 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.183C>T (p.His61=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000330830] Chr10:113574365 [GRCh38]
Chr10:115334124 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.*644T>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000354734] Chr10:113589013 [GRCh38]
Chr10:115348772 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.830C>T (p.Ser277Leu) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000401497]|not provided [RCV000947285] Chr10:113580684 [GRCh38]
Chr10:115340443 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.*599del deletion Factor VII Marburg I Variant Thrombophilia [RCV000402418] Chr10:113588968 [GRCh38]
Chr10:115348727 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.396C>T (p.Pro132=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000332439] Chr10:113577214 [GRCh38]
Chr10:115336973 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*788G>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000355829] Chr10:113589157 [GRCh38]
Chr10:115348916 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.267C>T (p.Leu89=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000276918] Chr10:113575940 [GRCh38]
Chr10:115335699 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000357334] Chr10:113585799 [GRCh38]
Chr10:115345558 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*236A>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000382956] Chr10:113588605 [GRCh38]
Chr10:115348364 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1542C>T (p.Thr514=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000261729] Chr10:113588228 [GRCh38]
Chr10:115347987 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*1115C>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000385416] Chr10:113589484 [GRCh38]
Chr10:115349243 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.207C>T (p.Tyr69=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000385322] Chr10:113574389 [GRCh38]
Chr10:115334148 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.497C>T (p.Ser166Phe) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000278601] Chr10:113578074 [GRCh38]
Chr10:115337833 [GRCh37]
Chr10:10q25.3
likely benign|uncertain significance
NM_004132.5(HABP2):c.*1159C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000295780] Chr10:113589528 [GRCh38]
Chr10:115349287 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*621CTT[2] microsatellite Factor VII Marburg I Variant Thrombophilia [RCV000314263]|not provided [RCV000947286] Chr10:113588990..113588992 [GRCh38]
Chr10:115348749..115348751 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.-65C>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000360136] Chr10:113553057 [GRCh38]
Chr10:115312816 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1050G>A (p.Ala350=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000315252] Chr10:113582087 [GRCh38]
Chr10:115341846 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.568+3A>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000338306] Chr10:113578148 [GRCh38]
Chr10:115337907 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*869T>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000361792] Chr10:113589238 [GRCh38]
Chr10:115348997 [GRCh37]
Chr10:10q25.3
likely benign|uncertain significance
NM_004132.5(HABP2):c.1177G>C (p.Glu393Gln) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000316525] Chr10:113583298 [GRCh38]
Chr10:115343057 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.807A>C (p.Glu269Asp) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000339332] Chr10:113580661 [GRCh38]
Chr10:115340420 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*823C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000265934] Chr10:113589192 [GRCh38]
Chr10:115348951 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.95G>T (p.Ser32Ile) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000366003]|not provided [RCV000973246] Chr10:113567514 [GRCh38]
Chr10:115327273 [GRCh37]
Chr10:10q25.3
likely benign|uncertain significance
NM_004132.5(HABP2):c.158A>G (p.Glu53Gly) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000271133] Chr10:113574340 [GRCh38]
Chr10:115334099 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1156C>T (p.His386Tyr) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000261272] Chr10:113583277 [GRCh38]
Chr10:115343036 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*919T>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000267152] Chr10:113589288 [GRCh38]
Chr10:115349047 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*1088T>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000330913] Chr10:113589457 [GRCh38]
Chr10:115349216 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*1051C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000384471] Chr10:113589420 [GRCh38]
Chr10:115349179 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*467C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000294193] Chr10:113588836 [GRCh38]
Chr10:115348595 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.63C>T (p.Ala21=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000306617] Chr10:113553184 [GRCh38]
Chr10:115312943 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*859A>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000320992] Chr10:113589228 [GRCh38]
Chr10:115348987 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.402C>T (p.Tyr134=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000373142] Chr10:113577220 [GRCh38]
Chr10:115336979 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*682T>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000392252] Chr10:113589051 [GRCh38]
Chr10:115348810 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*1039T>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000325192] Chr10:113589408 [GRCh38]
Chr10:115349167 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_001177660.3(HABP2):c.-10+2091del deletion Factor VII Marburg I Variant Thrombophilia [RCV000340903] Chr10:113553048 [GRCh38]
Chr10:115312807 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1561T>C (p.Tyr521His) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000376114] Chr10:113588247 [GRCh38]
Chr10:115348006 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*1052G>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000289965] Chr10:113589421 [GRCh38]
Chr10:115349180 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*765C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000300970] Chr10:113589134 [GRCh38]
Chr10:115348893 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.930G>A (p.Lys310=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV000344254] Chr10:113581967 [GRCh38]
Chr10:115341726 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q25.3(chr10:115274398-115542099)x1 copy number loss See cases [RCV000447230] Chr10:115274398..115542099 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q25.3(chr10:115149731-115363881)x1 copy number loss See cases [RCV000445890] Chr10:115149731..115363881 [GRCh37]
Chr10:10q25.3
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10q25.3(chr10:115158275-115363881)x1 copy number loss See cases [RCV000448087] Chr10:115158275..115363881 [GRCh37]
Chr10:10q25.3
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q25.3(chr10:115149731-115363881)x1 copy number loss not provided [RCV000683204] Chr10:115149731..115363881 [GRCh37]
Chr10:10q25.3
likely benign
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_004132.5(HABP2):c.1159_1162dup (p.Gln388fs) duplication Factor VII Marburg I Variant Thrombophilia [RCV000779016] Chr10:113583279..113583280 [GRCh38]
Chr10:115343038..115343039 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_004132.5(HABP2):c.252C>T (p.His84=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107503]|not provided [RCV000881305] Chr10:113575925 [GRCh38]
Chr10:115335684 [GRCh37]
Chr10:10q25.3
benign|likely benign
GRCh37/hg19 10q25.3(chr10:115343286-115502332)x3 copy number gain not provided [RCV000847863] Chr10:115343286..115502332 [GRCh37]
Chr10:10q25.3
uncertain significance
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
NM_004132.5(HABP2):c.1107A>G (p.Arg369=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103989] Chr10:113583228 [GRCh38]
Chr10:115342987 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.866C>G (p.Thr289Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106940] Chr10:113581903 [GRCh38]
Chr10:115341662 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1384C>T (p.Arg462Cys) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104281] Chr10:113585804 [GRCh38]
Chr10:115345563 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.405C>A (p.Arg135=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103880]|not provided [RCV000889062] Chr10:113577223 [GRCh38]
Chr10:115336982 [GRCh37]
Chr10:10q25.3
benign|likely benign
NM_004132.5(HABP2):c.740+7T>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106938] Chr10:113578805 [GRCh38]
Chr10:115338564 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.753G>A (p.Ala251=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106939] Chr10:113580607 [GRCh38]
Chr10:115340366 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.968G>A (p.Gly323Asp) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107601] Chr10:113582005 [GRCh38]
Chr10:115341764 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*802G>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104069] Chr10:113589171 [GRCh38]
Chr10:115348930 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.466C>T (p.Pro156Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104163] Chr10:113578043 [GRCh38]
Chr10:115337802 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.516C>G (p.Ser172=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104164] Chr10:113578093 [GRCh38]
Chr10:115337852 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1238-2A>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104280] Chr10:113584146 [GRCh38]
Chr10:115343905 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.177T>A (p.Leu59=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107502]|not provided [RCV000889509] Chr10:113574359 [GRCh38]
Chr10:115334118 [GRCh37]
Chr10:10q25.3
benign|uncertain significance
NM_004132.5(HABP2):c.953T>C (p.Phe318Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107600] Chr10:113581990 [GRCh38]
Chr10:115341749 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*565A>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107701] Chr10:113588934 [GRCh38]
Chr10:115348693 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.621T>G (p.Asn207Lys) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104166] Chr10:113578679 [GRCh38]
Chr10:115338438 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.448+14G>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103881] Chr10:113577280 [GRCh38]
Chr10:115337039 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.1637T>C (p.Phe546Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104282] Chr10:113588323 [GRCh38]
Chr10:115348082 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*813C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104070] Chr10:113589182 [GRCh38]
Chr10:115348941 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*822C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104071] Chr10:113589191 [GRCh38]
Chr10:115348950 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.538G>A (p.Asp180Asn) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104165] Chr10:113578115 [GRCh38]
Chr10:115337874 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.633C>T (p.Asn211=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104167] Chr10:113578691 [GRCh38]
Chr10:115338450 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.*1124C>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001104378] Chr10:113589493 [GRCh38]
Chr10:115349252 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.-58G>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106838] Chr10:113553064 [GRCh38]
Chr10:115312823 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.698A>G (p.Glu233Gly) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106937] Chr10:113578756 [GRCh38]
Chr10:115338515 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*155T>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107042] Chr10:113588524 [GRCh38]
Chr10:115348283 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*360A>C single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107044] Chr10:113588729 [GRCh38]
Chr10:115348488 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.148A>T (p.Asn50Tyr) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107501] Chr10:113574330 [GRCh38]
Chr10:115334089 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.951C>A (p.Gly317=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107599] Chr10:113581988 [GRCh38]
Chr10:115341747 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*1175C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107125] Chr10:113589544 [GRCh38]
Chr10:115349303 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.342G>A (p.Thr114=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103878] Chr10:113577160 [GRCh38]
Chr10:115336919 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.46C>G (p.Leu16Val) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106839] Chr10:113553167 [GRCh38]
Chr10:115312926 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.899C>T (p.Ser300Phe) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001106941] Chr10:113581936 [GRCh38]
Chr10:115341695 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*29C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107040] Chr10:113588398 [GRCh38]
Chr10:115348157 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*51G>A single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107041] Chr10:113588420 [GRCh38]
Chr10:115348179 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.*349C>T single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107043] Chr10:113588718 [GRCh38]
Chr10:115348477 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.268G>A (p.Val90Ile) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103876] Chr10:113575941 [GRCh38]
Chr10:115335700 [GRCh37]
Chr10:10q25.3
likely benign
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103879] Chr10:113577182 [GRCh38]
Chr10:115336941 [GRCh37]
Chr10:10q25.3
benign
NM_004132.5(HABP2):c.906A>G (p.Gly302=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107597] Chr10:113581943 [GRCh38]
Chr10:115341702 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.933C>G (p.Ile311Met) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107598] Chr10:113581970 [GRCh38]
Chr10:115341729 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1006C>T (p.Pro336Ser) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001107602] Chr10:113582043 [GRCh38]
Chr10:115341802 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.332-10T>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103877] Chr10:113577140 [GRCh38]
Chr10:115336899 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1092C>T (p.Thr364=) single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103988] Chr10:113582129 [GRCh38]
Chr10:115341888 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.1238-15T>G single nucleotide variant Factor VII Marburg I Variant Thrombophilia [RCV001103990] Chr10:113584133 [GRCh38]
Chr10:115343892 [GRCh37]
Chr10:10q25.3
uncertain significance
NM_004132.5(HABP2):c.83C>G (p.Ser28Cys) single nucleotide variant not provided [RCV001355363] Chr10:113567502 [GRCh38]
Chr10:115327261 [GRCh37]
Chr10:10q25.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4798 AgrOrtholog
COSMIC HABP2 COSMIC
Ensembl Genes ENSG00000148702 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000277903 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443283 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000351270 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542051 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
  2.40.20.10 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/TrEMBL
  3.10.100.10 UniProtKB/TrEMBL
GTEx ENSG00000148702 GTEx
HGNC ID HGNC:4798 ENTREZGENE
Human Proteome Map HABP2 Human Proteome Map
InterPro C-type_lectin-like/link_sf UniProtKB/TrEMBL
  CTDL_fold UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/TrEMBL
  Ig/MHC_CS UniProtKB/TrEMBL
  Ig_sub UniProtKB/TrEMBL
  Ig_V-set UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot
  Kringle-like UniProtKB/Swiss-Prot
  Kringle_CS UniProtKB/Swiss-Prot
  Kringle_sf UniProtKB/Swiss-Prot
  Link_dom UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:3026 UniProtKB/Swiss-Prot
NCBI Gene 3026 ENTREZGENE
OMIM 188050 OMIM
  603924 OMIM
  616535 OMIM
Pfam EGF UniProtKB/Swiss-Prot
  Kringle UniProtKB/Swiss-Prot
  Trypsin UniProtKB/Swiss-Prot
  V-set UniProtKB/TrEMBL
  Xlink UniProtKB/TrEMBL
PharmGKB PA29172 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/TrEMBL
  IG_MHC UniProtKB/TrEMBL
  KRINGLE_1 UniProtKB/Swiss-Prot
  KRINGLE_2 UniProtKB/Swiss-Prot
  LINK_1 UniProtKB/TrEMBL
  LINK_2 UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART EGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  IGv UniProtKB/TrEMBL
  LINK UniProtKB/TrEMBL
  SM00130 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/TrEMBL
  SSF50494 UniProtKB/Swiss-Prot
  SSF56436 UniProtKB/TrEMBL
  SSF57440 UniProtKB/Swiss-Prot
UniProt HABP2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IWX2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K467 UniProtKB/Swiss-Prot
  B7Z8U5 UniProtKB/Swiss-Prot
  F5H5M6 UniProtKB/Swiss-Prot
  O00663 UniProtKB/Swiss-Prot