HTRA1 (HtrA serine peptidase 1) - Rat Genome Database

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Gene: HTRA1 (HtrA serine peptidase 1) Homo sapiens
Analyze
Symbol: HTRA1
Name: HtrA serine peptidase 1
RGD ID: 732659
HGNC Page HGNC:9476
Description: Enables identical protein binding activity and molecular function activator activity. Predicted to be involved in positive regulation of apoptotic process; programmed cell death; and proteolysis. Predicted to act upstream of or within chorionic trophoblast cell differentiation; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and placenta development. Located in plasma membrane. Implicated in CADASIL (multiple); gastrointestinal system cancer (multiple); hypertension; lung adenocarcinoma; and macular degeneration (multiple). Biomarker of diabetes mellitus; gastrointestinal system cancer (multiple); lung non-small cell carcinoma; malignant mesothelioma; and ulcerative colitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARMD7; CADASIL2; CARASIL; high-temperature requirement A serine peptidase 1; HtrA; IGFBP5-protease; L56; ORF480; protease, serine, 11; protease, serine, 11 (IGF binding); PRSS11; serine protease HTRA1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810122,461,553 - 122,514,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10122,458,551 - 122,514,907 (+)EnsemblGRCh38hg38GRCh38
GRCh3710124,221,069 - 124,274,423 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,211,047 - 124,264,413 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410124,211,110 - 124,264,413NCBI
Celera10117,953,296 - 118,006,683 (+)NCBICelera
Cytogenetic Map10q26.13NCBI
HuRef10117,851,770 - 117,905,378 (+)NCBIHuRef
CHM1_110124,505,637 - 124,559,026 (+)NCBICHM1_1
T2T-CHM13v2.010123,357,406 - 123,410,753 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
3',5'-cyclic AMP  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetazolamide  (ISO)
acrylamide  (EXP,ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimycin A  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (EXP,ISO)
carbonyl sulfide  (ISO)
chloropicrin  (EXP)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
deoxycholic acid  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinous acid  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
gefitinib  (EXP)
gentamycin  (ISO)
graphene oxide  (EXP)
graphite  (ISO)
isotretinoin  (EXP)
ketamine  (ISO)
L-ethionine  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
Nutlin-3  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
perfluorohexanesulfonic acid  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
thyroxine  (ISO)
tirbanibulin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vitamin E  (EXP)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal fundus fluorescein angiography  (IAGP)
Abnormal indocyanine green angiography  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal morphology of the choroidal vasculature  (IAGP)
Abnormal posterior segment imaging  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal systemic blood pressure  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of refraction  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Akinetic mutism  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Arteriosclerosis  (IAGP)
Arteriosclerosis of small cerebral arteries  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bowel incontinence  (IAGP)
Brain atrophy  (IAGP)
Carotid artery stenosis  (IAGP)
Cervical spondylosis  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Deep cerebral white matter hyperintensities  (IAGP)
Delusion  (IAGP)
Dementia  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse demyelination of the cerebral white matter  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilation of Virchow-Robin spaces  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Early young adult onset  (IAGP)
Emotional lability  (IAGP)
Gait apraxia  (IAGP)
Gait disturbance  (IAGP)
Hallucinations  (IAGP)
Headache  (IAGP)
Hemiparesis  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Increased axial length of the globe  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Lacunar stroke  (IAGP)
Late onset  (IAGP)
Leukoencephalopathy  (IAGP)
Localized osteoporosis  (IAGP)
Low back pain  (IAGP)
Lower limb pain  (IAGP)
Macular degeneration  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Neck pain  (IAGP)
Nystagmus  (IAGP)
Personality changes  (IAGP)
Polygenic inheritance  (IAGP)
Progressive encephalopathy  (IAGP)
Pseudobulbar paralysis  (IAGP)
Pseudobulbar signs  (IAGP)
Recurrent subcortical infarcts  (IAGP)
Retinal atrophy  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic ataxia  (IAGP)
Spasticity  (IAGP)
Status cribrosum  (IAGP)
Stroke  (IAGP)
Stroke-like episode  (IAGP)
Subretinal deposits  (IAGP)
Transient ischemic attack  (IAGP)
Urinary incontinence  (IAGP)
Vascular granular osmiophilic material deposition  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Low HtrA1 expression in patients with long‑standing ulcerative colitis and colorectal cancer. Altobelli E, etal., Oncol Rep. 2017 Jul;38(1):418-426. doi: 10.3892/or.2017.5700. Epub 2017 Jun 6.
2. Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration. Andreoli MT, etal., Am J Ophthalmol. 2009 Dec;148(6):869-74. doi: 10.1016/j.ajo.2009.07.002. Epub 2009 Oct 1.
3. The serine protease HtrA1 is a novel prognostic factor for human mesothelioma. Baldi A, etal., Pharmacogenomics. 2008 Aug;9(8):1069-77. doi: 10.2217/14622416.9.8.1069.
4. HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. Cameron DJ, etal., Cell Cycle. 2007 May 2;6(9):1122-5. Epub 2007 May 16.
5. HtrA1, a potential predictor of response to cisplatin-based combination chemotherapy in gastric cancer. Catalano V, etal., Histopathology. 2011 Apr;58(5):669-78. doi: 10.1111/j.1365-2559.2011.03818.x. Epub 2011 Mar 30.
6. Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy. Cheng Y, etal., PLoS One. 2013;8(1):e53665. doi: 10.1371/journal.pone.0053665. Epub 2013 Jan 9.
7. Serine protease HtrA1 modulates chemotherapy-induced cytotoxicity. Chien J, etal., J Clin Invest. 2006 Jul;116(7):1994-2004. doi: 10.1172/JCI27698. Epub 2006 Jun 8.
8. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Deangelis MM, etal., Ophthalmology. 2008 Jul;115(7):1209-1215.e7. doi: 10.1016/j.ophtha.2007.10.032. Epub 2007 Dec 27.
9. Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics. Feehan M, etal., BMC Med Genet. 2011 Jun 17;12:83. doi: 10.1186/1471-2350-12-83.
10. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Francis PJ, etal., Mol Vis. 2008 Aug 4;14:1395-400.
11. Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration. Gibbs D, etal., Vision Res. 2008 Feb;48(5):685-9. doi: 10.1016/j.visres.2007.10.022. Epub 2008 Jan 22.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. Goto A, etal., J Ocul Biol Dis Infor. 2009 Dec 22;2(4):164-175.
14. Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. Hadley D, etal., Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2191-6. doi: 10.1167/iovs.09-3798. Epub 2009 Nov 20.
15. Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism. Jaouni T, etal., Arch Ophthalmol. 2012 Aug;130(8):987-91. doi: 10.1001/archophthalmol.2012.1483.
16. Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice. Jones A, etal., Proc Natl Acad Sci U S A. 2011 Aug 30;108(35):14578-83. doi: 10.1073/pnas.1102853108. Epub 2011 Aug 15.
17. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Kaur I, etal., Invest Ophthalmol Vis Sci. 2008 May;49(5):1771-6. doi: 10.1167/iovs.07-0560.
18. [Interaction of susceptibility genes in patients with exudative age-related macular degeneration]. Liang X, etal., Zhonghua Yan Ke Za Zhi. 2012 Mar;48(3):241-5.
19. ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population. Nakanishi H, etal., Eye (Lond). 2010 Jun;24(6):1078-84. doi: 10.1038/eye.2009.215. Epub 2009 Aug 14.
20. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24. Oleuropein improves mitochondrial function to attenuate oxidative stress by activating the Nrf2 pathway in the hypothalamic paraventricular nucleus of spontaneously hypertensive rats. Sun W, etal., Neuropharmacology. 2017 Feb;113(Pt A):556-566. doi: 10.1016/j.neuropharm.2016.11.010. Epub 2016 Nov 12.
25. Association of genetic polymorphisms and age-related macular degeneration in Chinese population. Tian J, etal., Invest Ophthalmol Vis Sci. 2012 Jun 28;53(7):4262-9. doi: 10.1167/iovs.11-8542.
26. Characterization of a novel HDAC/RXR/HtrA1 signaling axis as a novel target to overcome cisplatin resistance in human non-small cell lung cancer. Wang W, etal., Mol Cancer. 2020 Sep 2;19(1):134. doi: 10.1186/s12943-020-01256-9.
27. Elevated serine protease HtrA1 inhibits cell proliferation, reduces invasion, and induces apoptosis in esophageal squamous cell carcinoma by blocking the nuclear factor-κB signaling pathway. Xia J, etal., Tumour Biol. 2013 Feb;34(1):317-28. doi: 10.1007/s13277-012-0553-6. Epub 2012 Oct 19.
28. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
29. HtrA1 Down-regulation Induces Cisplatin Resistance in Colon Cancer by Increasing XIAP and Activating PI3K/Akt Pathway. Xiong Z, etal., Ann Clin Lab Sci. 2017 May;47(3):264-270.
30. HtrA1 downregulation induces cisplatin resistance in lung adenocarcinoma by promoting cancer stem cell-like properties. Xu Y, etal., J Cell Biochem. 2014 Jun;115(6):1112-21. doi: 10.1002/jcb.24751.
31. Biologic Evaluation of Diabetes and Local Recurrence in Non-Small Cell Lung Cancer. Yang X, etal., Pathol Oncol Res. 2017 Jan;23(1):73-77. doi: 10.1007/s12253-016-0086-1. Epub 2016 Jul 13.
32. Effect of HtrA1 Polymorphism on Sensitivity to Chemotherapy in Patients with Colon Cancer. Yao Y and Li N, Med Sci Monit. 2020 Mar 27;26:e921933. doi: 10.12659/MSM.921933.
33. HtrA1 expression associated with the occurrence and development of esophageal cancer. Yu Y, etal., World J Surg Oncol. 2012 Aug 30;10:179. doi: 10.1186/1477-7819-10-179.
34. Serine protease HtrA1 as an inhibitor on proliferation invasion and migration of gastric cancer. Zhao Z, etal., Med Oncol. 2015 Apr;32(4):112. doi: 10.1007/s12032-015-0524-z. Epub 2015 Mar 12.
35. HtrA1 regulates epithelial-mesenchymal transition in hepatocellular carcinoma. Zhu F, etal., Biochem Biophys Res Commun. 2015 Nov 20;467(3):589-94. doi: 10.1016/j.bbrc.2015.09.105. Epub 2015 Sep 25.
36. Serine protease HtrA1 expression in human hepatocellular carcinoma. Zhu F, etal., Hepatobiliary Pancreat Dis Int. 2010 Oct;9(5):508-12.
37. Expression of HTRA Genes and Its Association with Microsatellite Instability and Survival of Patients with Colorectal Cancer. Zurawa-Janicka D, etal., Int J Mol Sci. 2020 May 31;21(11). pii: ijms21113947. doi: 10.3390/ijms21113947.
Additional References at PubMed
PMID:8619474   PMID:8977104   PMID:9110174   PMID:9344681   PMID:9852107   PMID:12242667   PMID:12477932   PMID:12513693   PMID:14500695   PMID:14702039   PMID:14716297   PMID:14973287  
PMID:15101818   PMID:15231748   PMID:15855271   PMID:15917099   PMID:16344560   PMID:16377621   PMID:16385451   PMID:16650464   PMID:17053108   PMID:17053109   PMID:17072861   PMID:17094466  
PMID:17292962   PMID:17438519   PMID:17568988   PMID:17679948   PMID:17692272   PMID:17718385   PMID:17884985   PMID:17904186   PMID:17962403   PMID:18079691   PMID:18156628   PMID:18161619  
PMID:18162041   PMID:18206206   PMID:18241672   PMID:18301036   PMID:18316707   PMID:18362109   PMID:18427598   PMID:18452160   PMID:18511946   PMID:18515590   PMID:18682812   PMID:18718667  
PMID:18806297   PMID:18939352   PMID:19001225   PMID:19026638   PMID:19056122   PMID:19065273   PMID:19117936   PMID:19169232   PMID:19187590   PMID:19199708   PMID:19202148   PMID:19255159  
PMID:19259132   PMID:19301262   PMID:19375943   PMID:19387015   PMID:19424634   PMID:19470753   PMID:19491722   PMID:19636338   PMID:19657146   PMID:19688690   PMID:19783326   PMID:19798546  
PMID:19845562   PMID:19913121   PMID:19948975   PMID:20132989   PMID:20140183   PMID:20238042   PMID:20346514   PMID:20378180   PMID:20379614   PMID:20381870   PMID:20385819   PMID:20385826  
PMID:20388781   PMID:20437615   PMID:20445115   PMID:20456446   PMID:20469960   PMID:20533271   PMID:20538655   PMID:20551380   PMID:20576771   PMID:20606025   PMID:20628086   PMID:20664794  
PMID:20671064   PMID:20678803   PMID:20688737   PMID:20861866   PMID:20881291   PMID:20888482   PMID:20940247   PMID:21031019   PMID:21060055   PMID:21067572   PMID:21115960   PMID:21122828  
PMID:21163940   PMID:21191724   PMID:21203342   PMID:21282580   PMID:21297635   PMID:21320870   PMID:21387310   PMID:21402993   PMID:21558292   PMID:21622153   PMID:21665990   PMID:21708937  
PMID:21817962   PMID:21873635   PMID:21882634   PMID:21899153   PMID:21959923   PMID:21988832   PMID:22049084   PMID:22155582   PMID:22259222   PMID:22487577   PMID:22491416   PMID:22535953  
PMID:22556410   PMID:22578544   PMID:22582805   PMID:22694956   PMID:22705344   PMID:22761798   PMID:22865667   PMID:22900900   PMID:22923201   PMID:23056244   PMID:23060141   PMID:23083999  
PMID:23204795   PMID:23209669   PMID:23326517   PMID:23337555   PMID:23362846   PMID:23376485   PMID:23414945   PMID:23455636   PMID:23478260   PMID:23534868   PMID:23577725   PMID:23580433  
PMID:23582991   PMID:23592924   PMID:23644223   PMID:23673665   PMID:23687431   PMID:23712470   PMID:23747913   PMID:23963851   PMID:23979707   PMID:24013816   PMID:24080590   PMID:24493577  
PMID:24535794   PMID:24846539   PMID:24854852   PMID:24865190   PMID:24907345   PMID:24979214   PMID:25002585   PMID:25077532   PMID:25277308   PMID:25329061   PMID:25369932   PMID:25519903  
PMID:25530301   PMID:25550099   PMID:25627090   PMID:25687108   PMID:25715554   PMID:25726184   PMID:25771815   PMID:25772074   PMID:25776486   PMID:26035313   PMID:26063658   PMID:26186194  
PMID:26187609   PMID:26310622   PMID:26337002   PMID:26427389   PMID:26436840   PMID:26496610   PMID:26708185   PMID:26848857   PMID:26864869   PMID:27068509   PMID:27125063   PMID:27164673  
PMID:27338780   PMID:27379525   PMID:27388476   PMID:27809811   PMID:27841854   PMID:27879347   PMID:28076935   PMID:28327460   PMID:28432852   PMID:28514442   PMID:28583181   PMID:28604741  
PMID:28628911   PMID:28642151   PMID:28659708   PMID:28689406   PMID:28726057   PMID:28782182   PMID:28846052   PMID:28941979   PMID:28992183   PMID:29093542   PMID:29096998   PMID:29101275  
PMID:29266444   PMID:29269042   PMID:29269789   PMID:29409460   PMID:29412803   PMID:29414786   PMID:29561953   PMID:29572155   PMID:29580722   PMID:29695130   PMID:29725820   PMID:29730901  
PMID:29801032   PMID:29863874   PMID:29895533   PMID:30015931   PMID:30068478   PMID:30131069   PMID:30726710   PMID:30795802   PMID:30859180   PMID:30895599   PMID:31088682   PMID:31197037  
PMID:31385385   PMID:31583032   PMID:31601092   PMID:31658355   PMID:31753913   PMID:31884580   PMID:31970928   PMID:32017060   PMID:32102578   PMID:32328755   PMID:32345717   PMID:32777973  
PMID:32814029   PMID:32838591   PMID:32895092   PMID:33109952   PMID:33198211   PMID:33268848   PMID:33387109   PMID:33493738   PMID:33601219   PMID:33636181   PMID:33661357   PMID:33743591  
PMID:33746601   PMID:33864728   PMID:33930395   PMID:33961781   PMID:34192300   PMID:34270682   PMID:34270834   PMID:34299191   PMID:34301870   PMID:34303089   PMID:34310874   PMID:34326497  
PMID:34461444   PMID:34472763   PMID:34510819   PMID:34563268   PMID:34626176   PMID:34946854   PMID:34951056   PMID:35063084   PMID:35131488   PMID:35137483   PMID:35138344   PMID:35240203  
PMID:35339693   PMID:35696571   PMID:35705147   PMID:35946346   PMID:36047879   PMID:36215168   PMID:36253578   PMID:36261288   PMID:36344049   PMID:36430917   PMID:36481221   PMID:36517590  
PMID:36581531   PMID:36861143   PMID:37017808   PMID:37085233   PMID:37515639   PMID:37717737   PMID:38113892   PMID:38334007   PMID:38515161   PMID:39013852   PMID:39028977   PMID:39148085  


Genomics

Comparative Map Data
HTRA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810122,461,553 - 122,514,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10122,458,551 - 122,514,907 (+)EnsemblGRCh38hg38GRCh38
GRCh3710124,221,069 - 124,274,423 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,211,047 - 124,264,413 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410124,211,110 - 124,264,413NCBI
Celera10117,953,296 - 118,006,683 (+)NCBICelera
Cytogenetic Map10q26.13NCBI
HuRef10117,851,770 - 117,905,378 (+)NCBIHuRef
CHM1_110124,505,637 - 124,559,026 (+)NCBICHM1_1
T2T-CHM13v2.010123,357,406 - 123,410,753 (+)NCBIT2T-CHM13v2.0
Htra1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397130,537,933 - 130,587,388 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7130,537,841 - 130,587,390 (+)EnsemblGRCm39 Ensembl
GRCm387130,936,203 - 130,985,658 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7130,936,111 - 130,985,660 (+)EnsemblGRCm38mm10GRCm38
MGSCv377138,079,717 - 138,129,172 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367130,727,377 - 130,776,801 (+)NCBIMGSCv36mm8
Celera7130,747,058 - 130,797,116 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map773.2NCBI
Htra1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81194,928,069 - 194,977,619 (+)NCBIGRCr8
mRatBN7.21185,497,815 - 185,547,380 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1185,497,735 - 185,547,379 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1193,848,030 - 193,897,573 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01201,026,602 - 201,075,741 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01193,698,377 - 193,747,515 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01201,499,067 - 201,548,508 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1201,499,028 - 201,548,513 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01208,532,013 - 208,581,538 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41190,257,899 - 190,308,325 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11190,407,779 - 190,458,206 (+)NCBI
Celera1183,110,143 - 183,159,496 (+)NCBICelera
Cytogenetic Map1q41NCBI
Htra1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955477761,127 - 808,994 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955477761,127 - 808,396 (+)NCBIChiLan1.0ChiLan1.0
HTRA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28134,316,807 - 134,370,272 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110134,322,279 - 134,375,624 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010119,030,409 - 119,083,682 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110122,437,914 - 122,495,281 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10122,441,098 - 122,494,733 (+)Ensemblpanpan1.1panPan2
HTRA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12832,133,779 - 32,157,835 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2832,132,547 - 32,157,409 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2832,180,049 - 32,232,586 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02832,639,924 - 32,693,737 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2832,640,671 - 32,693,730 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12832,172,101 - 32,225,511 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02832,194,497 - 32,247,262 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02832,398,590 - 32,451,692 (+)NCBIUU_Cfam_GSD_1.0
Htra1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721314,244,028 - 14,290,168 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648611,271,130 - 11,316,739 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648611,271,130 - 11,317,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HTRA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14132,041,934 - 132,103,595 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114132,043,044 - 132,103,590 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214143,497,521 - 143,558,513 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HTRA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19115,197,543 - 115,250,092 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9115,197,566 - 115,253,919 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604876,496,054 - 76,549,359 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Htra1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473724,216,525 - 24,267,827 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473724,217,260 - 24,267,836 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HTRA1
278 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002775.5(HTRA1):c.616G>A (p.Gly206Arg) single nucleotide variant not specified [RCV000516829] Chr10:122489465 [GRCh38]
Chr10:124248981 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) single nucleotide variant CARASIL syndrome [RCV000023168]|not provided [RCV001852016] Chr10:122506796 [GRCh38]
Chr10:124266312 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) single nucleotide variant CARASIL syndrome [RCV000020489]|Macular degeneration [RCV000334821]|not provided [RCV001522700] Chr10:122461754 [GRCh38]
Chr10:124221270 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) single nucleotide variant CARASIL syndrome [RCV000020490]|Macular degeneration [RCV000265972]|not provided [RCV001515967]|not specified [RCV001794460] Chr10:122461760 [GRCh38]
Chr10:124221276 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) single nucleotide variant CARASIL syndrome [RCV000020491]|Macular degeneration [RCV000313539]|not provided [RCV001522701] Chr10:122461760 [GRCh38]
Chr10:124221276 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.4(HTRA1):c.-625G>A single nucleotide variant Age related macular degeneration 7 [RCV000007914]|Susceptibility to neovascular type of age-related macular degeneration [RCV000007915] Chr10:122461028 [GRCh38]
Chr10:122461028..122461029 [GRCh38]
Chr10:124220544 [GRCh37]
Chr10:124220544..124220545 [GRCh37]
Chr10:10q26.13
risk factor
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) single nucleotide variant CARASIL syndrome [RCV000007916]|HTRA1-related cerebral small vessel disease [RCV000779017]|not provided [RCV002512882] Chr10:122508758 [GRCh38]
Chr10:124268274 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) single nucleotide variant CARASIL syndrome [RCV000007917]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001250521]|Seizure [RCV001003543]|Small vessel cerebrovascular disease [RCV001003928]|not provided [RCV001851726] Chr10:122506817 [GRCh38]
Chr10:124266333 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) single nucleotide variant CARASIL syndrome [RCV000007918] Chr10:122506802 [GRCh38]
Chr10:124266318 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) single nucleotide variant CARASIL syndrome [RCV000007919] Chr10:122489603 [GRCh38]
Chr10:124249119 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 copy number gain See cases [RCV000050701] Chr10:119273012..123117390 [GRCh38]
Chr10:121032524..124876906 [GRCh37]
Chr10:121022514..124866896 [NCBI36]
Chr10:10q26.11-26.13
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 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
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
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) single nucleotide variant Macular degeneration [RCV000291036]|not provided [RCV000086954]|not specified [RCV001795157] Chr10:122489602 [GRCh38]
Chr10:124249118 [GRCh37]
Chr10:10q26.13
benign|likely benign|not provided
NM_002775.5(HTRA1):c.1215C>G (p.Phe405Leu) single nucleotide variant not provided [RCV002287929] Chr10:122512006 [GRCh38]
Chr10:124271522 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) single nucleotide variant CARASIL syndrome [RCV001293044] Chr10:122461887 [GRCh38]
Chr10:124221403 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) single nucleotide variant CARASIL syndrome [RCV000144147]|not provided [RCV003556181] Chr10:122506734 [GRCh38]
Chr10:124266250 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|not provided
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) single nucleotide variant CARASIL syndrome [RCV000144148]|HTRA1-related cerebral small vessel disease [RCV003398782]|not provided [RCV001091420] Chr10:122506767 [GRCh38]
Chr10:124266283 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) single nucleotide variant CARASIL syndrome [RCV000144149] Chr10:122508741 [GRCh38]
Chr10:124268257 [GRCh37]
Chr10:10q26.13
pathogenic|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 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 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 copy number loss See cases [RCV000139771] Chr10:122143176..124358013 [GRCh38]
Chr10:123902691..126046582 [GRCh37]
Chr10:123892681..126036572 [NCBI36]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) single nucleotide variant CARASIL syndrome [RCV000157765]|Vascular dementia [RCV001263182]|not provided [RCV001797058] Chr10:122506874 [GRCh38]
Chr10:124266390 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|uncertain significance|not provided
NM_002775.5(HTRA1):c.126del (p.Glu42fs) deletion CARASIL syndrome [RCV000157766] Chr10:122461778 [GRCh38]
Chr10:124221294 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|not provided
NM_002775.5(HTRA1):c.472+4990G>T single nucleotide variant not provided [RCV000190309] Chr10:122467114 [GRCh38]
Chr10:122467114..122467115 [GRCh38]
Chr10:124226630 [GRCh37]
Chr10:124226630..124226631 [GRCh37]
Chr10:10q26.13
not provided
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206899] Chr10:122506765 [GRCh38]
Chr10:124266281 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206925] Chr10:122488926 [GRCh38]
Chr10:124248442 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.973-1G>A single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206946] Chr10:122507369 [GRCh38]
Chr10:124266885 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206984] Chr10:122488946 [GRCh38]
Chr10:124248462 [GRCh37]
Chr10:10q26.13
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_002775.5(HTRA1):c.385C>T (p.Leu129=) single nucleotide variant Macular degeneration [RCV000285342] Chr10:122462037 [GRCh38]
Chr10:124221553 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.843C>T (p.Ala281=) single nucleotide variant Macular degeneration [RCV000346013]|not provided [RCV003718161] Chr10:122506756 [GRCh38]
Chr10:124266272 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.472+6C>A single nucleotide variant Macular degeneration [RCV000326266]|not provided [RCV000923031] Chr10:122462130 [GRCh38]
Chr10:124221646 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu) single nucleotide variant HTRA1-related disorder [RCV003417963]|Macular degeneration [RCV000352185] Chr10:122512051 [GRCh38]
Chr10:124271567 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) single nucleotide variant Macular degeneration [RCV000400395]|not provided [RCV000761751]|not specified [RCV000517598] Chr10:122506792 [GRCh38]
Chr10:124266308 [GRCh37]
Chr10:10q26.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.*191G>T single nucleotide variant Macular degeneration [RCV000353453] Chr10:122514550 [GRCh38]
Chr10:124274066 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) single nucleotide variant HTRA1-related disorder [RCV003401285]|Inborn genetic diseases [RCV002520541]|Macular degeneration [RCV000379814]|not provided [RCV001172043] Chr10:122461897 [GRCh38]
Chr10:124221413 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) single nucleotide variant Macular degeneration [RCV000292204]|not provided [RCV000894560] Chr10:122512012 [GRCh38]
Chr10:124271528 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.473-8G>T single nucleotide variant Macular degeneration [RCV000380837]|not provided [RCV000901659] Chr10:122488894 [GRCh38]
Chr10:124248410 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.*446G>A single nucleotide variant Macular degeneration [RCV000359140] Chr10:122514805 [GRCh38]
Chr10:124274321 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1274+14G>A single nucleotide variant CARASIL syndrome [RCV001701939]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001701940]|Macular degeneration [RCV000298544]|not provided [RCV001518133]|not specified [RCV001530169] Chr10:122512079 [GRCh38]
Chr10:124271595 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.1274+8G>A single nucleotide variant CARASIL syndrome [RCV001701995]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702418]|Macular degeneration [RCV000391119]|not provided [RCV000711024]|not specified [RCV001528818] Chr10:122512073 [GRCh38]
Chr10:124271589 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.*296C>G single nucleotide variant Macular degeneration [RCV000299709] Chr10:122514655 [GRCh38]
Chr10:124274171 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer) insertion Macular degeneration [RCV000354631]|not provided [RCV001091417] Chr10:122461685..122461686 [GRCh38]
Chr10:124221201..124221202 [GRCh37]
Chr10:10q26.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_002775.5(HTRA1):c.523G>A (p.Val175Met) single nucleotide variant not provided [RCV001644604] Chr10:122488952 [GRCh38]
Chr10:124248468 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter) single nucleotide variant not provided [RCV000487710] Chr10:122462103 [GRCh38]
Chr10:124221619 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.888C>G (p.Ile296Met) single nucleotide variant not provided [RCV000585556] Chr10:122506801 [GRCh38]
Chr10:124266317 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.957C>T (p.Thr319=) single nucleotide variant HTRA1-related disorder [RCV004748785]|not provided [RCV000488019] Chr10:122506870 [GRCh38]
Chr10:124266386 [GRCh37]
Chr10:10q26.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.-57C>A single nucleotide variant Macular degeneration [RCV000313936]|not provided [RCV004706758] Chr10:122461596 [GRCh38]
Chr10:124221112 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala) single nucleotide variant not provided [RCV001851441]|not specified [RCV000517689] Chr10:122462067 [GRCh38]
Chr10:124221583 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) single nucleotide variant CARASIL syndrome [RCV000576298]|Macular degeneration [RCV000259894]|not provided [RCV001511034]|not specified [RCV001795917] Chr10:122461711 [GRCh38]
Chr10:124221227 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.*217T>A single nucleotide variant Macular degeneration [RCV000391126] Chr10:122514576 [GRCh38]
Chr10:124274092 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001099667.3(ARMS2):c.298-14_298-13insG insertion Macular degeneration [RCV000271292] Chr10:122456893..122456894 [GRCh38]
Chr10:124216409..124216410 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) single nucleotide variant Macular degeneration [RCV000279664]|not provided [RCV000711026] Chr10:122461729 [GRCh38]
Chr10:124221245 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001099667.3(ARMS2):c.298-4del deletion Macular degeneration [RCV000287310] Chr10:122456895 [GRCh38]
Chr10:124216411 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter) single nucleotide variant not provided [RCV000599520] Chr10:122461919 [GRCh38]
Chr10:124221435 [GRCh37]
Chr10:10q26.13
likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
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 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
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 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 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
NM_002775.5(HTRA1):c.543del (p.Ala182fs) deletion Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627025]|not provided [RCV001860484] Chr10:122488972 [GRCh38]
Chr10:124248488 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627026] Chr10:122489616 [GRCh38]
Chr10:124249132 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627029] Chr10:122506884 [GRCh38]
Chr10:124266400 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627023] Chr10:122462011 [GRCh38]
Chr10:124221527 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.646G>A (p.Val216Met) single nucleotide variant not provided [RCV003318105] Chr10:122489495 [GRCh38]
Chr10:124249011 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627024] Chr10:122488965 [GRCh38]
Chr10:124248481 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627028]|not provided [RCV001860485] Chr10:122506778 [GRCh38]
Chr10:124266294 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) single nucleotide variant CARASIL syndrome [RCV003989546]|not provided [RCV000512888] Chr10:122489438 [GRCh38]
Chr10:124248954 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|uncertain significance
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
NM_002775.5(HTRA1):c.573-8G>A single nucleotide variant not provided [RCV000513477] Chr10:122489414 [GRCh38]
Chr10:124248930 [GRCh37]
Chr10:10q26.13
conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627027] Chr10:122506740 [GRCh38]
Chr10:124266256 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) single nucleotide variant CARASIL syndrome [RCV000678044] Chr10:122489463 [GRCh38]
Chr10:124248979 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
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 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
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
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser) single nucleotide variant not provided [RCV000711025]|not specified [RCV003235372] Chr10:122488946 [GRCh38]
Chr10:124248462 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
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_002775.5(HTRA1):c.1005+169G>A single nucleotide variant not provided [RCV001724655] Chr10:122507571 [GRCh38]
Chr10:124267087 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1275-36C>T single nucleotide variant CARASIL syndrome [RCV001703045]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702227]|not provided [RCV001666773] Chr10:122514155 [GRCh38]
Chr10:124273671 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1120+254G>C single nucleotide variant not provided [RCV001709458] Chr10:122509024 [GRCh38]
Chr10:124268540 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup) microsatellite not provided [RCV000991733] Chr10:122461681..122461682 [GRCh38]
Chr10:124221197..124221198 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu) single nucleotide variant not provided [RCV000991734] Chr10:122506797 [GRCh38]
Chr10:124266313 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.272dup (p.Pro92fs) duplication not provided [RCV003312179] Chr10:122461923..122461924 [GRCh38]
Chr10:124221439..124221440 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.1120+115C>G single nucleotide variant not provided [RCV001644305] Chr10:122508885 [GRCh38]
Chr10:124268401 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1350C>T (p.Asp450=) single nucleotide variant Macular degeneration [RCV001102842]|not provided [RCV000915305] Chr10:122514266 [GRCh38]
Chr10:124273782 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.465C>T (p.Cys155=) single nucleotide variant not provided [RCV000982558] Chr10:122462117 [GRCh38]
Chr10:124221633 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.96T>G (p.Pro32=) single nucleotide variant not provided [RCV000902336] Chr10:122461748 [GRCh38]
Chr10:124221264 [GRCh37]
Chr10:10q26.13
likely benign
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Distal 10q deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
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_002775.5(HTRA1):c.337G>T (p.Ala113Ser) single nucleotide variant Macular degeneration [RCV001104660]|not provided [RCV000888759] Chr10:122461989 [GRCh38]
Chr10:124221505 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.846C>T (p.Ile282=) single nucleotide variant not provided [RCV000921674] Chr10:122506759 [GRCh38]
Chr10:124266275 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met) single nucleotide variant Macular degeneration [RCV001108056]|not provided [RCV000906260] Chr10:122508744 [GRCh38]
Chr10:124268260 [GRCh37]
Chr10:10q26.13
likely benign
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_002775.5(HTRA1):c.144G>T (p.Pro48=) single nucleotide variant not provided [RCV000981819] Chr10:122461796 [GRCh38]
Chr10:124221312 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.180C>T (p.Asp60=) single nucleotide variant not provided [RCV000916279] Chr10:122461832 [GRCh38]
Chr10:124221348 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1416A>T (p.Thr472=) single nucleotide variant not provided [RCV000917208] Chr10:122514332 [GRCh38]
Chr10:124273848 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1341T>G (p.Asp447Glu) single nucleotide variant not specified [RCV004783294] Chr10:122514257 [GRCh38]
Chr10:124273773 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu) single nucleotide variant Macular degeneration [RCV001108055] Chr10:122506757 [GRCh38]
Chr10:124266273 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1179-220del deletion not provided [RCV001695471] Chr10:122511750 [GRCh38]
Chr10:124271266 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1179-211del deletion not provided [RCV001648564] Chr10:122511759 [GRCh38]
Chr10:124271275 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.777+93C>T single nucleotide variant not provided [RCV001682107] Chr10:122489719 [GRCh38]
Chr10:124249235 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.473-176C>G single nucleotide variant not provided [RCV001674782] Chr10:122488726 [GRCh38]
Chr10:124248242 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.973-7A>T single nucleotide variant not provided [RCV000918460] Chr10:122507363 [GRCh38]
Chr10:124266879 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.351G>T (p.Pro117=) single nucleotide variant not provided [RCV000909847] Chr10:122462003 [GRCh38]
Chr10:124221519 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1065C>T (p.Ile355=) single nucleotide variant not provided [RCV000885790] Chr10:122508715 [GRCh38]
Chr10:124268231 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu) single nucleotide variant Inborn genetic diseases [RCV004032113]|Macular degeneration [RCV001105822]|not provided [RCV002558058] Chr10:122489427 [GRCh38]
Chr10:124248943 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.*460C>T single nucleotide variant Macular degeneration [RCV001102843] Chr10:122514819 [GRCh38]
Chr10:124274335 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.34C>T (p.Leu12=) single nucleotide variant Macular degeneration [RCV001102736]|not provided [RCV001091418] Chr10:122461686 [GRCh38]
Chr10:124221202 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.1425C>T (p.Pro475=) single nucleotide variant not provided [RCV000933828] Chr10:122514341 [GRCh38]
Chr10:124273857 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.323G>T (p.Gly108Val) single nucleotide variant not provided [RCV000994522] Chr10:122461975 [GRCh38]
Chr10:124221491 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1179-205_1179-204insTA insertion not provided [RCV001649275] Chr10:122511764..122511765 [GRCh38]
Chr10:124271280..124271281 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1348G>A (p.Asp450Asn) single nucleotide variant not provided [RCV001659010] Chr10:122514264 [GRCh38]
Chr10:124273780 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.972+215G>A single nucleotide variant not provided [RCV001695545] Chr10:122507100 [GRCh38]
Chr10:124266616 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.777+167G>A single nucleotide variant not provided [RCV001651610] Chr10:122489793 [GRCh38]
Chr10:124249309 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.165C>A (p.Gly55=) single nucleotide variant not provided [RCV002073090]|not specified [RCV001663448] Chr10:122461817 [GRCh38]
Chr10:124221333 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg) single nucleotide variant not provided [RCV001663449] Chr10:122508698 [GRCh38]
Chr10:124268214 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.972+99C>T single nucleotide variant not provided [RCV001617476] Chr10:122506984 [GRCh38]
Chr10:124266500 [GRCh37]
Chr10:10q26.13
benign
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys) single nucleotide variant Macular degeneration [RCV001104658] Chr10:122461785 [GRCh38]
Chr10:124221301 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) single nucleotide variant Macular degeneration [RCV001104659]|not provided [RCV003130155] Chr10:122461828 [GRCh38]
Chr10:124221344 [GRCh37]
Chr10:10q26.13
conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala) single nucleotide variant Macular degeneration [RCV001105823] Chr10:122489619 [GRCh38]
Chr10:124249135 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004785272]|HTRA1-related cerebral small vessel disease [RCV004587176]|Vascular dementia [RCV002051728]|not provided [RCV001543535] Chr10:122506760 [GRCh38]
Chr10:124266276 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic|uncertain significance
NM_002775.5(HTRA1):c.1179-226_1179-225del deletion not provided [RCV001710690] Chr10:122511733..122511734 [GRCh38]
Chr10:124271249..124271250 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1005+74TTGT[2] microsatellite not provided [RCV001710741] Chr10:122507476..122507479 [GRCh38]
Chr10:124266992..124266995 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.660C>G (p.His220Gln) single nucleotide variant CARASIL syndrome [RCV001090042]|not provided [RCV002554804] Chr10:122489509 [GRCh38]
Chr10:124249025 [GRCh37]
Chr10:10q26.13
likely pathogenic|uncertain significance
NM_002775.5(HTRA1):c.1179-216_1179-204del microsatellite not provided [RCV001679528] Chr10:122511738..122511750 [GRCh38]
Chr10:124271254..124271266 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.840C>A (p.Val280=) single nucleotide variant Macular degeneration [RCV001105826] Chr10:122506753 [GRCh38]
Chr10:124266269 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.777+14C>T single nucleotide variant Macular degeneration [RCV001105824]|not provided [RCV002558059] Chr10:122489640 [GRCh38]
Chr10:124249156 [GRCh37]
Chr10:10q26.13
benign|uncertain significance
NM_002775.5(HTRA1):c.834C>T (p.Phe278=) single nucleotide variant Macular degeneration [RCV001105825]|not provided [RCV002067784] Chr10:122506747 [GRCh38]
Chr10:124266263 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.12G>T (p.Pro4=) single nucleotide variant Macular degeneration [RCV001102735]|not provided [RCV001815498] Chr10:122461664 [GRCh38]
Chr10:124221180 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser) single nucleotide variant Macular degeneration [RCV001102734] Chr10:122461662 [GRCh38]
Chr10:124221178 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3 copy number gain not provided [RCV001006357] Chr10:123232922..124638514 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) single nucleotide variant CARASIL syndrome [RCV001328991]|HTRA1-related disorder [RCV003393841]|Inborn genetic diseases [RCV002555000]|Macular degeneration [RCV001102841]|not provided [RCV001726430] Chr10:122514249 [GRCh38]
Chr10:124273765 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys) single nucleotide variant HTRA1-related disorder [RCV004749604]|Macular degeneration [RCV001104661]|not provided [RCV001091419] Chr10:122462103 [GRCh38]
Chr10:124221619 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001253237] Chr10:122461790 [GRCh38]
Chr10:124221306 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1274C>T (p.Ala425Val) single nucleotide variant CARASIL syndrome [RCV001802756] Chr10:122512065 [GRCh38]
Chr10:124271581 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001255607]|not provided [RCV001726471] Chr10:122506748 [GRCh38]
Chr10:124266264 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.443T>A (p.Ile148Asn) single nucleotide variant not specified [RCV004782196] Chr10:122462095 [GRCh38]
Chr10:124221611 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
NM_002775.5(HTRA1):c.529_531del (p.Glu177del) deletion not provided [RCV001288907] Chr10:122488957..122488959 [GRCh38]
Chr10:124248473..124248475 [GRCh37]
Chr10:10q26.13
uncertain significance
Single allele deletion not provided [RCV001391678] Chr10:119302758..124813305 [GRCh37]
Chr10:10q26.11-26.13
likely pathogenic
NM_002775.5(HTRA1):c.1394_1395del (p.Gly465fs) deletion not provided [RCV001310580] Chr10:122514310..122514311 [GRCh38]
Chr10:124273826..124273827 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001542097] Chr10:122506733 [GRCh38]
Chr10:124266249 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.1178+18G>A single nucleotide variant not provided [RCV001509661] Chr10:122510171 [GRCh38]
Chr10:124269687 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.778-20G>A single nucleotide variant not provided [RCV001516140] Chr10:122506671 [GRCh38]
Chr10:124266187 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001724734] Chr10:122507380 [GRCh38]
Chr10:124266896 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_002775.5(HTRA1):c.518C>T (p.Ala173Val) single nucleotide variant not provided [RCV001726829] Chr10:122488947 [GRCh38]
Chr10:124248463 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.703G>A (p.Gly235Ser) single nucleotide variant See cases [RCV002252487] Chr10:122489552 [GRCh38]
Chr10:124249068 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.893G>A (p.Ser298Asn) single nucleotide variant not provided [RCV001752686] Chr10:122506806 [GRCh38]
Chr10:124266322 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001785356]|not provided [RCV002291765] Chr10:122488925 [GRCh38]
Chr10:124248441 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala) single nucleotide variant Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [RCV003994335]|not provided [RCV001816094] Chr10:122514339 [GRCh38]
Chr10:124273855 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001808278] Chr10:122489439 [GRCh38]
Chr10:124248955 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) single nucleotide variant CARASIL syndrome [RCV001806399]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001810331]|not provided [RCV002542419] Chr10:122506818 [GRCh38]
Chr10:124266334 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.599C>T (p.Pro200Leu) single nucleotide variant CARASIL syndrome [RCV004813202]|not provided [RCV002009316] Chr10:122489448 [GRCh38]
Chr10:124248964 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.434C>A (p.Pro145Gln) single nucleotide variant Inborn genetic diseases [RCV002562793]|not provided [RCV001950641] Chr10:122462086 [GRCh38]
Chr10:124221602 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.400G>A (p.Ala134Thr) single nucleotide variant not provided [RCV002044135] Chr10:122462052 [GRCh38]
Chr10:124221568 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1201C>T (p.Arg401Trp) single nucleotide variant not provided [RCV001874401] Chr10:122511992 [GRCh38]
Chr10:124271508 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.124G>A (p.Glu42Lys) single nucleotide variant not provided [RCV002040855] Chr10:122461776 [GRCh38]
Chr10:124221292 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1130T>A (p.Ile377Asn) single nucleotide variant not provided [RCV001864208] Chr10:122510105 [GRCh38]
Chr10:124269621 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.530AGA[1] (p.Lys178del) microsatellite not provided [RCV001929512] Chr10:122488959..122488961 [GRCh38]
Chr10:124248475..124248477 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.743A>C (p.Lys248Thr) single nucleotide variant not provided [RCV001914277] Chr10:122489592 [GRCh38]
Chr10:124249108 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1172C>T (p.Thr391Met) single nucleotide variant not provided [RCV001947710] Chr10:122510147 [GRCh38]
Chr10:124269663 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.743A>G (p.Lys248Arg) single nucleotide variant not provided [RCV001927378] Chr10:122489592 [GRCh38]
Chr10:124249108 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.278_280delinsCC (p.Phe93fs) indel not provided [RCV001837115] Chr10:122461930..122461932 [GRCh38]
Chr10:124221446..124221448 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.152A>G (p.Glu51Gly) single nucleotide variant not provided [RCV001983733] Chr10:122461804 [GRCh38]
Chr10:124221320 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.679C>T (p.Arg227Trp) single nucleotide variant HTRA1-related disorder [RCV004749761]|not provided [RCV001891991] Chr10:122489528 [GRCh38]
Chr10:124249044 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) copy number loss not specified [RCV002052892] Chr10:117019650..125217066 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_002775.5(HTRA1):c.1275-3C>T single nucleotide variant HTRA1-related disorder [RCV004749832]|not provided [RCV002020946] Chr10:122514188 [GRCh38]
Chr10:124273704 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_002775.5(HTRA1):c.1414A>T (p.Thr472Ser) single nucleotide variant Inborn genetic diseases [RCV002553628]|not provided [RCV001911270] Chr10:122514330 [GRCh38]
Chr10:124273846 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.127C>T (p.Pro43Ser) single nucleotide variant not provided [RCV002027117] Chr10:122461779 [GRCh38]
Chr10:124221295 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.728A>G (p.Lys243Arg) single nucleotide variant not provided [RCV001996345] Chr10:122489577 [GRCh38]
Chr10:124249093 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) single nucleotide variant CARASIL syndrome [RCV002479734]|Inborn genetic diseases [RCV002642139]|not provided [RCV002017499] Chr10:122506733 [GRCh38]
Chr10:124266249 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1249G>A (p.Val417Ile) single nucleotide variant not provided [RCV001898139] Chr10:122512040 [GRCh38]
Chr10:124271556 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.466G>C (p.Gly156Arg) single nucleotide variant Inborn genetic diseases [RCV004042412]|not provided [RCV001991284] Chr10:122462118 [GRCh38]
Chr10:124221634 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.972C>T (p.Asn324=) single nucleotide variant not provided [RCV001979469] Chr10:122506885 [GRCh38]
Chr10:124266401 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.370A>G (p.Asn124Asp) single nucleotide variant not provided [RCV001930622] Chr10:122462022 [GRCh38]
Chr10:124221538 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.491G>A (p.Ser164Asn) single nucleotide variant not provided [RCV001960391] Chr10:122488920 [GRCh38]
Chr10:124248436 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.547G>A (p.Val183Met) single nucleotide variant not provided [RCV001905962] Chr10:122488976 [GRCh38]
Chr10:124248492 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.710C>T (p.Thr237Ile) single nucleotide variant not provided [RCV001915947] Chr10:122489559 [GRCh38]
Chr10:124249075 [GRCh37]
Chr10:10q26.13
uncertain significance
NC_000010.10:g.(?_124221169)_(124221660_?)del deletion not provided [RCV001951302] Chr10:124221169..124221660 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.1136A>G (p.Lys379Arg) single nucleotide variant not provided [RCV002016017] Chr10:122510111 [GRCh38]
Chr10:124269627 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1086G>T (p.Lys362Asn) single nucleotide variant not provided [RCV001901360] Chr10:122508736 [GRCh38]
Chr10:124268252 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.579G>A (p.Pro193=) single nucleotide variant not provided [RCV002166913] Chr10:122489428 [GRCh38]
Chr10:124248944 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1121-13G>A single nucleotide variant not provided [RCV002107094] Chr10:122510083 [GRCh38]
Chr10:124269599 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.603G>A (p.Val201=) single nucleotide variant not provided [RCV002111006] Chr10:122489452 [GRCh38]
Chr10:124248968 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.778-16G>A single nucleotide variant not provided [RCV002109353] Chr10:122506675 [GRCh38]
Chr10:124266191 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.15C>G (p.Arg5=) single nucleotide variant not provided [RCV002085140] Chr10:122461667 [GRCh38]
Chr10:124221183 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.996A>G (p.Leu332=) single nucleotide variant not provided [RCV002113405] Chr10:122507393 [GRCh38]
Chr10:124266909 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1314T>C (p.Asn438=) single nucleotide variant not provided [RCV002171479] Chr10:122514230 [GRCh38]
Chr10:124273746 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1006-20G>A single nucleotide variant not provided [RCV002115744] Chr10:122508636 [GRCh38]
Chr10:124268152 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.1389C>T (p.Arg463=) single nucleotide variant not provided [RCV002197376] Chr10:122514305 [GRCh38]
Chr10:124273821 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1008C>T (p.Asp336=) single nucleotide variant not provided [RCV002088425] Chr10:122508658 [GRCh38]
Chr10:124268174 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.973-6T>C single nucleotide variant not provided [RCV002174180] Chr10:122507364 [GRCh38]
Chr10:124266880 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1173G>A (p.Thr391=) single nucleotide variant not provided [RCV002196847] Chr10:122510148 [GRCh38]
Chr10:124269664 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1095G>C (p.Thr365=) single nucleotide variant not provided [RCV002218475] Chr10:122508745 [GRCh38]
Chr10:124268261 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.672C>T (p.Asn224=) single nucleotide variant not provided [RCV002140040] Chr10:122489521 [GRCh38]
Chr10:124249037 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1296C>T (p.Asp432=) single nucleotide variant not provided [RCV002218019] Chr10:122514212 [GRCh38]
Chr10:124273728 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1323C>T (p.Ser441=) single nucleotide variant not provided [RCV002123413] Chr10:122514239 [GRCh38]
Chr10:124273755 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1413C>T (p.Ile471=) single nucleotide variant not provided [RCV002158926] Chr10:122514329 [GRCh38]
Chr10:124273845 [GRCh37]
Chr10:10q26.13
likely benign
NC_000010.10:g.(?_124248398)_(124249162_?)del deletion not provided [RCV003113120] Chr10:124248398..124249162 [GRCh37]
Chr10:10q26.13
pathogenic
NC_000010.10:g.(?_124214244)_(124273875_?)dup duplication not provided [RCV003113121] Chr10:124214244..124273875 [GRCh37]
Chr10:10q26.13
uncertain significance
NC_000010.10:g.(?_123239371)_(124813281_?)del deletion FGFR2-related craniosynostosis [RCV003119408] Chr10:123239371..124813281 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.283G>T (p.Val95Leu) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002227771] Chr10:122461935 [GRCh38]
Chr10:124221451 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.972+1G>C single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002251114] Chr10:122506886 [GRCh38]
Chr10:124266402 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.205G>C (p.Gly69Arg) single nucleotide variant Inborn genetic diseases [RCV003274364]|not provided [RCV003237031] Chr10:122461857 [GRCh38]
Chr10:124221373 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.126G>A (p.Glu42=) single nucleotide variant not provided [RCV002262292] Chr10:122461778 [GRCh38]
Chr10:124221294 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.92C>T (p.Ala31Val) single nucleotide variant not provided [RCV002276362] Chr10:122461744 [GRCh38]
Chr10:124221260 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002289037] Chr10:122506770 [GRCh38]
Chr10:124266286 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.671del (p.Asn224fs) deletion Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002290310] Chr10:122489519 [GRCh38]
Chr10:124249035 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn) single nucleotide variant Age related macular degeneration 7 [RCV002282856]|HTRA1-related disorder [RCV003943344]|not provided [RCV003325599] Chr10:122506871 [GRCh38]
Chr10:124266387 [GRCh37]
Chr10:10q26.13
pathogenic|uncertain significance
GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1 copy number loss not provided [RCV002472737] Chr10:124252660..125447562 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.13(chr10:123964214-124477580)x3 copy number gain not provided [RCV002474795] Chr10:123964214..124477580 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.940A>G (p.Met314Val) single nucleotide variant not provided [RCV002474270] Chr10:122506853 [GRCh38]
Chr10:124266369 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs) deletion Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002463470] Chr10:122461827..122461830 [GRCh38]
Chr10:124221343..124221346 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.417C>G (p.Ser139=) single nucleotide variant not provided [RCV002974874] Chr10:122462069 [GRCh38]
Chr10:124221585 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu) single nucleotide variant not provided [RCV002618901] Chr10:122488952 [GRCh38]
Chr10:124248468 [GRCh37]
Chr10:10q26.13
conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.1420A>G (p.Ile474Val) single nucleotide variant not provided [RCV002618028] Chr10:122514336 [GRCh38]
Chr10:124273852 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1379T>C (p.Met460Thr) single nucleotide variant not provided [RCV002882292] Chr10:122514295 [GRCh38]
Chr10:124273811 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1158A>C (p.Arg386=) single nucleotide variant not provided [RCV003016218] Chr10:122510133 [GRCh38]
Chr10:124269649 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.497G>A (p.Arg166His) single nucleotide variant not provided [RCV002593107] Chr10:122488926 [GRCh38]
Chr10:124248442 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.148C>G (p.Pro50Ala) single nucleotide variant not provided [RCV002923064] Chr10:122461800 [GRCh38]
Chr10:124221316 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.504A>G (p.Lys168=) single nucleotide variant not provided [RCV002923894] Chr10:122488933 [GRCh38]
Chr10:124248449 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.540C>T (p.Ala180=) single nucleotide variant not provided [RCV002591134] Chr10:122488969 [GRCh38]
Chr10:124248485 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1011T>C (p.Gly337=) single nucleotide variant not provided [RCV002953298] Chr10:122508661 [GRCh38]
Chr10:124268177 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.702C>T (p.Asn234=) single nucleotide variant not provided [RCV002592886] Chr10:122489551 [GRCh38]
Chr10:124249067 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.879C>A (p.Thr293=) single nucleotide variant not provided [RCV002622095] Chr10:122506792 [GRCh38]
Chr10:124266308 [GRCh37]
Chr10:10q26.13
likely benign|conflicting interpretations of pathogenicity
NM_002775.5(HTRA1):c.1282C>G (p.Leu428Val) single nucleotide variant not provided [RCV002870791] Chr10:122514198 [GRCh38]
Chr10:124273714 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.472+2T>C single nucleotide variant not provided [RCV002736282] Chr10:122462126 [GRCh38]
Chr10:124221642 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.1388G>A (p.Arg463His) single nucleotide variant not provided [RCV002570924] Chr10:122514304 [GRCh38]
Chr10:124273820 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.187G>T (p.Gly63Cys) single nucleotide variant not provided [RCV002700692] Chr10:122461839 [GRCh38]
Chr10:124221355 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs) deletion HTRA1-related autosomal dominant cerebral small vessel disease [RCV003324043]|not provided [RCV002701276] Chr10:122461835..122461836 [GRCh38]
Chr10:124221351..124221352 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.1208G>A (p.Arg403Gln) single nucleotide variant not provided [RCV002596520] Chr10:122511999 [GRCh38]
Chr10:124271515 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.972+1G>A single nucleotide variant Age related macular degeneration 7 [RCV004066843]|not provided [RCV002667870] Chr10:122506886 [GRCh38]
Chr10:124266402 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.624T>C (p.Ile208=) single nucleotide variant not provided [RCV002917781] Chr10:122489473 [GRCh38]
Chr10:124248989 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.778-7G>A single nucleotide variant not provided [RCV002957350] Chr10:122506684 [GRCh38]
Chr10:124266200 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.777+17C>T single nucleotide variant not provided [RCV002575544] Chr10:122489643 [GRCh38]
Chr10:124249159 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.809C>T (p.Ser270Phe) single nucleotide variant not provided [RCV002711807] Chr10:122506722 [GRCh38]
Chr10:124266238 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.246G>C (p.Pro82=) single nucleotide variant not provided [RCV002602262] Chr10:122461898 [GRCh38]
Chr10:124221414 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.782A>G (p.Lys261Arg) single nucleotide variant Inborn genetic diseases [RCV004632096]|not provided [RCV002937343] Chr10:122506695 [GRCh38]
Chr10:124266211 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.470A>G (p.Gln157Arg) single nucleotide variant not provided [RCV002770652] Chr10:122462122 [GRCh38]
Chr10:124221638 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1230A>C (p.Ser410=) single nucleotide variant not provided [RCV003026711] Chr10:122512021 [GRCh38]
Chr10:124271537 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.777+6G>A single nucleotide variant not provided [RCV002726160] Chr10:122489632 [GRCh38]
Chr10:124249148 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.973-20T>A single nucleotide variant not provided [RCV002658463] Chr10:122507350 [GRCh38]
Chr10:124266866 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1275-9G>A single nucleotide variant not provided [RCV002589409] Chr10:122514182 [GRCh38]
Chr10:124273698 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1178+12G>A single nucleotide variant not provided [RCV002653703] Chr10:122510165 [GRCh38]
Chr10:124269681 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.992C>T (p.Pro331Leu) single nucleotide variant not provided [RCV002586310] Chr10:122507389 [GRCh38]
Chr10:124266905 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1351G>A (p.Val451Ile) single nucleotide variant not provided [RCV003072302] Chr10:122514267 [GRCh38]
Chr10:124273783 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1387C>T (p.Arg463Cys) single nucleotide variant not provided [RCV002612226] Chr10:122514303 [GRCh38]
Chr10:124273819 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.775C>G (p.Gln259Glu) single nucleotide variant Inborn genetic diseases [RCV003217609] Chr10:122489624 [GRCh38]
Chr10:124249140 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly) single nucleotide variant Inborn genetic diseases [RCV003210527]|not provided [RCV003482457] Chr10:122461672 [GRCh38]
Chr10:124221188 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1195A>C (p.Lys399Gln) single nucleotide variant not provided [RCV003225300] Chr10:122511986 [GRCh38]
Chr10:124271502 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_002775.5(HTRA1):c.1348G>C (p.Asp450His) single nucleotide variant not provided [RCV003135693] Chr10:122514264 [GRCh38]
Chr10:124273780 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.989G>A (p.Gly330Asp) single nucleotide variant not provided [RCV003135694] Chr10:122507386 [GRCh38]
Chr10:124266902 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.430C>T (p.Arg144Trp) single nucleotide variant not provided [RCV003135695] Chr10:122462082 [GRCh38]
Chr10:124221598 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1408A>G (p.Met470Val) single nucleotide variant not provided [RCV003135696] Chr10:122514324 [GRCh38]
Chr10:124273840 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.398G>A (p.Arg133His) single nucleotide variant Inborn genetic diseases [RCV003200682] Chr10:122462050 [GRCh38]
Chr10:124221566 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.809C>A (p.Ser270Tyr) single nucleotide variant Inborn genetic diseases [RCV003219324] Chr10:122506722 [GRCh38]
Chr10:124266238 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
NM_002775.5(HTRA1):c.74C>T (p.Ser25Phe) single nucleotide variant not provided [RCV003325775] Chr10:122461726 [GRCh38]
Chr10:124221242 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.84C>A (p.Gly28=) single nucleotide variant not provided [RCV003394545] Chr10:122461736 [GRCh38]
Chr10:124221252 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn) single nucleotide variant not provided [RCV003482646] Chr10:122461660 [GRCh38]
Chr10:124221176 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NC_000010.11:g.122458640del deletion not provided [RCV001726828] Chr10:122458640 [GRCh38]
Chr10:124218156 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_002775.5(HTRA1):c.691G>A (p.Glu231Lys) single nucleotide variant HTRA1-related disorder [RCV003429079] Chr10:122489540 [GRCh38]
Chr10:124249056 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.806G>A (p.Arg269His) single nucleotide variant not provided [RCV003394548] Chr10:122506719 [GRCh38]
Chr10:124266235 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.112C>G (p.Pro38Ala) single nucleotide variant not provided [RCV003394546] Chr10:122461764 [GRCh38]
Chr10:124221280 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.338C>T (p.Ala113Val) single nucleotide variant not provided [RCV003394547] Chr10:122461990 [GRCh38]
Chr10:124221506 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.539C>T (p.Ala180Val) single nucleotide variant HTRA1-related disorder [RCV003412283] Chr10:122488968 [GRCh38]
Chr10:124248484 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003444467] Chr10:122510102 [GRCh38]
Chr10:124269618 [GRCh37]
Chr10:10q26.13
uncertain significance
NC_000010.10:g.(?_124221068)_(124274424_?)dup duplication not specified [RCV003489644] Chr10:124221068..124274424 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003494559] Chr10:122506823 [GRCh38]
Chr10:124266339 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.610G>A (p.Gly204Arg) single nucleotide variant not provided [RCV003693306] Chr10:122489459 [GRCh38]
Chr10:124248975 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.838G>A (p.Val280Ile) single nucleotide variant not provided [RCV003882276] Chr10:122506751 [GRCh38]
Chr10:124266267 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1210G>A (p.Asp404Asn) single nucleotide variant not provided [RCV003827920] Chr10:122512001 [GRCh38]
Chr10:124271517 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.9C>A (p.Ile3=) single nucleotide variant not provided [RCV003661551] Chr10:122461661 [GRCh38]
Chr10:124221177 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.842_847dup (p.Ile282_Gly283insAlaIle) duplication not provided [RCV003574068] Chr10:122506751..122506752 [GRCh38]
Chr10:124266267..124266268 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1254T>C (p.Ile418=) single nucleotide variant not provided [RCV003694724] Chr10:122512045 [GRCh38]
Chr10:124271561 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.572+20T>C single nucleotide variant not provided [RCV003827953] Chr10:122489021 [GRCh38]
Chr10:124248537 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.70C>T (p.Leu24=) single nucleotide variant not provided [RCV003580538] Chr10:122461722 [GRCh38]
Chr10:124221238 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.300G>A (p.Thr100=) single nucleotide variant not provided [RCV003849386] Chr10:122461952 [GRCh38]
Chr10:124221468 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.150G>A (p.Pro50=) single nucleotide variant not provided [RCV003849453] Chr10:122461802 [GRCh38]
Chr10:124221318 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.970A>G (p.Asn324Asp) single nucleotide variant not provided [RCV003835491] Chr10:122506883 [GRCh38]
Chr10:124266399 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.632A>C (p.Glu211Ala) single nucleotide variant not provided [RCV003837785] Chr10:122489481 [GRCh38]
Chr10:124248997 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.778-15C>T single nucleotide variant not provided [RCV003669845] Chr10:122506676 [GRCh38]
Chr10:124266192 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1207C>T (p.Arg403Trp) single nucleotide variant not provided [RCV003548205] Chr10:122511998 [GRCh38]
Chr10:124271514 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.327C>G (p.Leu109=) single nucleotide variant not provided [RCV003669855] Chr10:122461979 [GRCh38]
Chr10:124221495 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.263A>T (p.Gln88Leu) single nucleotide variant not provided [RCV003700957] Chr10:122461915 [GRCh38]
Chr10:124221431 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1178+17C>T single nucleotide variant not provided [RCV003833309] Chr10:122510170 [GRCh38]
Chr10:124269686 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.34delinsTCCT (p.Leu11_Leu12insSer) indel HTRA1-related disorder [RCV004750403]|not provided [RCV003668633] Chr10:122461686 [GRCh38]
Chr10:124221202 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.909C>T (p.Gly303=) single nucleotide variant HTRA1-related disorder [RCV003946718]|not provided [RCV003559389] Chr10:122506822 [GRCh38]
Chr10:124266338 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.73T>C (p.Ser25Pro) single nucleotide variant not provided [RCV003846035] Chr10:122461725 [GRCh38]
Chr10:124221241 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.645C>T (p.Ile215=) single nucleotide variant not provided [RCV003841328] Chr10:122489494 [GRCh38]
Chr10:124249010 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.92C>A (p.Ala31Glu) single nucleotide variant not provided [RCV003682975] Chr10:122461744 [GRCh38]
Chr10:124221260 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1120+5G>A single nucleotide variant not provided [RCV003844440] Chr10:122508775 [GRCh38]
Chr10:124268291 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1179-16T>G single nucleotide variant not provided [RCV003563962] Chr10:122511954 [GRCh38]
Chr10:124271470 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.756A>G (p.Ala252=) single nucleotide variant not provided [RCV003681671] Chr10:122489605 [GRCh38]
Chr10:124249121 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.859T>C (p.Ser287Pro) single nucleotide variant not provided [RCV003550795] Chr10:122506772 [GRCh38]
Chr10:124266288 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.569G>A (p.Arg190His) single nucleotide variant not provided [RCV003564627] Chr10:122488998 [GRCh38]
Chr10:124248514 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1134C>T (p.Thr378=) single nucleotide variant not provided [RCV003868587] Chr10:122510109 [GRCh38]
Chr10:124269625 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1174T>C (p.Ser392Pro) single nucleotide variant not provided [RCV003705122] Chr10:122510149 [GRCh38]
Chr10:124269665 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.437C>G (p.Pro146Arg) single nucleotide variant not provided [RCV003554383] Chr10:122462089 [GRCh38]
Chr10:124221605 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_002775.5(HTRA1):c.473-13C>A single nucleotide variant not provided [RCV003843926] Chr10:122488889 [GRCh38]
Chr10:124248405 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.572+12C>T single nucleotide variant not provided [RCV003846251] Chr10:122489013 [GRCh38]
Chr10:124248529 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1152T>C (p.Gly384=) single nucleotide variant not provided [RCV003823127] Chr10:122510127 [GRCh38]
Chr10:124269643 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1086G>A (p.Lys362=) single nucleotide variant not provided [RCV003853264] Chr10:122508736 [GRCh38]
Chr10:124268252 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1347C>T (p.Ser449=) single nucleotide variant not provided [RCV003733587] Chr10:122514263 [GRCh38]
Chr10:124273779 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.161A>C (p.Glu54Ala) single nucleotide variant not provided [RCV003731360] Chr10:122461813 [GRCh38]
Chr10:124221329 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 copy number loss not provided [RCV004442821] Chr10:122331280..135426386 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_002775.5(HTRA1):c.1275-7G>A single nucleotide variant HTRA1-related disorder [RCV003962287] Chr10:122514184 [GRCh38]
Chr10:124273700 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter) single nucleotide variant CARASIL syndrome [RCV003989870]|HTRA1-related cerebral small vessel disease [RCV004767511]|HTRA1-related disorder [RCV003959258] Chr10:122510131 [GRCh38]
Chr10:124269647 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.837G>A (p.Val279=) single nucleotide variant HTRA1-related disorder [RCV003969524] Chr10:122506750 [GRCh38]
Chr10:124266266 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.840C>T (p.Val280=) single nucleotide variant HTRA1-related disorder [RCV003957038] Chr10:122506753 [GRCh38]
Chr10:124266269 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1182A>G (p.Lys394=) single nucleotide variant HTRA1-related disorder [RCV003937251] Chr10:122511973 [GRCh38]
Chr10:124271489 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.260T>G (p.Leu87Arg) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004555719] Chr10:122461912 [GRCh38]
Chr10:124221428 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1144T>C (p.Tyr382His) single nucleotide variant HTRA1-related disorder [RCV003896874] Chr10:122510119 [GRCh38]
Chr10:124269635 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1095G>A (p.Thr365=) single nucleotide variant HTRA1-related disorder [RCV003934295] Chr10:122508745 [GRCh38]
Chr10:124268261 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.27C>G (p.Leu9=) single nucleotide variant HTRA1-related disorder [RCV003946757] Chr10:122461679 [GRCh38]
Chr10:124221195 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.62C>T (p.Ser21Leu) single nucleotide variant Inborn genetic diseases [RCV004397441] Chr10:122461714 [GRCh38]
Chr10:124221230 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.76C>T (p.Arg26Trp) single nucleotide variant Inborn genetic diseases [RCV004397442] Chr10:122461728 [GRCh38]
Chr10:124221244 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.118C>G (p.Arg40Gly) single nucleotide variant Inborn genetic diseases [RCV004397439] Chr10:122461770 [GRCh38]
Chr10:124221286 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1222G>A (p.Val408Met) single nucleotide variant Inborn genetic diseases [RCV004397440] Chr10:122512013 [GRCh38]
Chr10:124271529 [GRCh37]
Chr10:10q26.13
uncertain significance
NC_000010.10:g.(?_122610933)_(124813281_?)dup duplication FGFR2-related craniosynostosis [RCV004581690] Chr10:122610933..124813281 [GRCh37]
Chr10:10q26.12-26.13
uncertain significance
NC_000010.10:g.(?_122842033)_(124813281_?)del deletion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV004580450] Chr10:122842033..124813281 [GRCh37]
Chr10:10q26.12-26.13
pathogenic
NM_002775.5(HTRA1):c.526G>T (p.Val176Leu) single nucleotide variant Inborn genetic diseases [RCV004635340] Chr10:122488955 [GRCh38]
Chr10:124248471 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1438C>T (p.Pro480Ser) single nucleotide variant not provided [RCV004793299] Chr10:122514354 [GRCh38]
Chr10:124273870 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.645C>G (p.Ile215Met) single nucleotide variant not provided [RCV004723996] Chr10:122489494 [GRCh38]
Chr10:124249010 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.506A>T (p.Tyr169Phe) single nucleotide variant not provided [RCV004762517]   uncertain significance
NM_002775.5(HTRA1):c.990C>A (p.Gly330=) single nucleotide variant not provided [RCV004809118] Chr10:122507387 [GRCh38]
Chr10:124266903 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1066C>T (p.Pro356Ser) single nucleotide variant not provided [RCV004769905] Chr10:122508716 [GRCh38]
Chr10:124268232 [GRCh37]
Chr10:10q26.13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:457
Count of miRNA genes:208
Interacting mature miRNAs:214
Transcripts:ENST00000368984, ENST00000420892
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597073939GWAS1170013_Hcoronary artery disease QTL GWAS1170013 (human)8e-11coronary artery disease10122478096122478097Human
597277983GWAS1374057_Hage-related macular degeneration, COVID-19 QTL GWAS1374057 (human)6e-300age-related macular degeneration, COVID-1910122464428122464429Human
597286431GWAS1382505_Hstroke QTL GWAS1382505 (human)7e-08stroke10122468108122468109Human
597294739GWAS1390813_Hmigraine disorder QTL GWAS1390813 (human)1e-12migraine disorder10122471234122471235Human
597184274GWAS1280348_Hbreast cancer QTL GWAS1280348 (human)5e-09breast cancer10122479794122479795Human
597579027GWAS1635887_HBlindness QTL GWAS1635887 (human)3e-11Blindness10122467114122467115Human
597059461GWAS1155535_Hvital capacity QTL GWAS1155535 (human)8e-27vital capacity10122471096122471097Human
597073921GWAS1169995_Hcoronary artery disease QTL GWAS1169995 (human)5e-10coronary artery disease10122477982122477983Human
597275777GWAS1371851_Hage-related macular degeneration, COVID-19 QTL GWAS1371851 (human)1e-18age-related macular degeneration, COVID-1910122464428122464429Human
597202688GWAS1298762_Hdiastolic blood pressure QTL GWAS1298762 (human)2e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)10122475710122475711Human
597147151GWAS1243225_HCOVID-19 QTL GWAS1243225 (human)0.0000001COVID-1910122507100122507101Human
597133966GWAS1230040_Hbody height QTL GWAS1230040 (human)4e-16body height (VT:0001253)body height (CMO:0000106)10122475839122475840Human
597209346GWAS1305420_Hvital capacity QTL GWAS1305420 (human)0.000006vital capacity10122514155122514156Human
596979339GWAS1098858_Hstroke QTL GWAS1098858 (human)7e-08stroke10122468108122468109Human
597326340GWAS1422414_Hpain QTL GWAS1422414 (human)0.000005pain10122471096122471097Human
597282618GWAS1378692_Hage-related macular degeneration QTL GWAS1378692 (human)2e-74age-related macular degeneration10122467114122467115Human
597177663GWAS1273737_Hspontaneous coronary artery dissection QTL GWAS1273737 (human)5e-08coronary artery integrity trait (VT:0010746)10122499546122499547Human
597073342GWAS1169416_Hcoronary artery disease QTL GWAS1169416 (human)0.0000004coronary artery disease10122485453122485454Human
597588916GWAS1645776_Hdegeneration of macula and posterior pole QTL GWAS1645776 (human)6e-13degeneration of macula and posterior pole10122467114122467115Human
597173298GWAS1269372_Hprotein measurement QTL GWAS1269372 (human)4e-10protein measurement10122483941122483942Human
597173299GWAS1269373_Hprotein measurement QTL GWAS1269373 (human)3e-85protein measurement10122467277122467278Human
597217459GWAS1313533_Hpulse pressure measurement QTL GWAS1313533 (human)1e-08pulse pressure measurementpulse pressure (CMO:0000292)10122475710122475711Human
597267636GWAS1363710_Hsmall vessel stroke QTL GWAS1363710 (human)4e-08small vessel stroke10122468108122468109Human
597067174GWAS1163248_Hlaterality measurement QTL GWAS1163248 (human)2e-09laterality measurement10122467114122467115Human
597055399GWAS1151473_HFEV/FVC ratio QTL GWAS1151473 (human)4e-15FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)10122474521122474522Human
597347755GWAS1443829_Hmyocardial infarction QTL GWAS1443829 (human)0.000005myocardial infarction10122478096122478097Human
597074725GWAS1170799_Hage-related macular degeneration, disease progression measurement QTL GWAS1170799 (human)8e-43age-related macular degeneration, disease progression measurementdisease progression measurement (CMO:0001110)10122467114122467115Human
596979119GWAS1098638_Hage-related macular degeneration QTL GWAS1098638 (human)2e-74age-related macular degeneration10122467114122467115Human
597318817GWAS1414891_HBack pain QTL GWAS1414891 (human)4e-11Back pain10122467277122467278Human
597078957GWAS1175031_Hwhite matter hyperintensity measurement QTL GWAS1175031 (human)0.0000004white matter hyperintensity measurement10122473665122473666Human
597267620GWAS1363694_Hsmall vessel stroke QTL GWAS1363694 (human)3e-08small vessel stroke10122473665122473666Human
597277351GWAS1373425_Hage-related macular degeneration, COVID-19 QTL GWAS1373425 (human)1e-299age-related macular degeneration, COVID-1910122464428122464429Human
597083945GWAS1180019_Hcoronary artery disease QTL GWAS1180019 (human)2e-12coronary artery disease10122477822122477823Human
597350879GWAS1446953_Hbody height QTL GWAS1446953 (human)6e-135body height (VT:0001253)body height (CMO:0000106)10122471096122471097Human
597143120GWAS1239194_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1239194 (human)0.0000008severe acute respiratory syndrome, COVID-1910122507100122507101Human
597290579GWAS1386653_Hsize QTL GWAS1386653 (human)4e-23size10122471096122471097Human
597463379GWAS1559453_Hstroke QTL GWAS1559453 (human)4e-08stroke10122467114122467115Human
597087687GWAS1183761_Hwhite matter hyperintensity measurement QTL GWAS1183761 (human)0.000001white matter hyperintensity measurement10122473665122473666Human
597205577GWAS1301651_HFEV/FVC ratio QTL GWAS1301651 (human)2e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)10122514155122514156Human
597184202GWAS1280276_Hmigraine disorder, Headache QTL GWAS1280276 (human)4e-09migraine disorder, Headache10122470997122470998Human
597146053GWAS1242127_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1242127 (human)0.0000008severe acute respiratory syndrome, COVID-1910122505677122505678Human
597184203GWAS1280277_Hmigraine disorder, Headache QTL GWAS1280277 (human)4e-10body lean mass (VT:0010483)total body lean mass (CMO:0003950)10122473665122473666Human
597079490GWAS1175564_Hwhite matter hyperintensity measurement QTL GWAS1175564 (human)0.000002white matter hyperintensity measurement10122473665122473666Human
597294016GWAS1390090_Hbody height QTL GWAS1390090 (human)7e-16body height (VT:0001253)body height (CMO:0000106)10122489528122489529Human
406919706GWAS568682_Hsystolic blood pressure QTL GWAS568682 (human)8e-10systolic blood pressuresystolic blood pressure (CMO:0000004)10122472904122472905Human
597278407GWAS1374481_Hage-related macular degeneration, COVID-19 QTL GWAS1374481 (human)0.000003age-related macular degeneration, COVID-1910122464428122464429Human
597304901GWAS1400975_Hcoronary artery disease QTL GWAS1400975 (human)3e-09coronary artery disease10122478096122478097Human
597212792GWAS1308866_Hage-related macular degeneration QTL GWAS1308866 (human)3e-412age-related macular degeneration10122464428122464429Human
596955381GWAS1074900_Hsize QTL GWAS1074900 (human)4e-23size10122471096122471097Human
597202554GWAS1298628_Hsystolic blood pressure QTL GWAS1298628 (human)1e-12systolic blood pressuresystolic blood pressure (CMO:0000004)10122475710122475711Human
597423102GWAS1519176_Hsystolic blood pressure QTL GWAS1519176 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)10122475710122475711Human
407095464GWAS744440_Hstroke QTL GWAS744440 (human)7e-08stroke10122468108122468109Human
597118332GWAS1214406_Hbody height QTL GWAS1214406 (human)4e-22body height (VT:0001253)body height (CMO:0000106)10122489528122489529Human
597146490GWAS1242564_Hphotoreceptor cell layer thickness measurement QTL GWAS1242564 (human)2e-16photoreceptor cell layer thickness measurement10122468108122468109Human
597118951GWAS1215025_Hblood protein measurement QTL GWAS1215025 (human)9e-20blood protein measurementblood protein measurement (CMO:0000028)10122467277122467278Human
597263593GWAS1359667_Hbody height QTL GWAS1359667 (human)3e-11body height (VT:0001253)body height (CMO:0000106)10122469687122469688Human
597115238GWAS1211312_Hsystolic blood pressure QTL GWAS1211312 (human)3e-12systolic blood pressuresystolic blood pressure (CMO:0000004)10122475710122475711Human
407271220GWAS920196_Hwhite matter hyperintensity measurement QTL GWAS920196 (human)0.0000008white matter hyperintensity measurement10122473665122473666Human
597433322GWAS1529396_Hprotein measurement QTL GWAS1529396 (human)9e-16protein measurement10122483301122483302Human
597305058GWAS1401132_Hcoronary artery disease QTL GWAS1401132 (human)2e-10coronary artery disease10122471234122471235Human
596978282GWAS1097801_Hbody height QTL GWAS1097801 (human)7e-16body height (VT:0001253)body height (CMO:0000106)10122489528122489529Human

Markers in Region
IB2169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,274,186 - 124,274,399UniSTSGRCh37
Build 3610124,264,176 - 124,264,389RGDNCBI36
Celera10118,006,445 - 118,006,658RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,140 - 117,905,353UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
Whitehead-RH Map10641.3UniSTS
RH69852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,228,500 - 124,228,620UniSTSGRCh37
Build 3610124,218,490 - 124,218,610RGDNCBI36
Celera10117,960,755 - 117,960,875RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,859,229 - 117,859,349UniSTS
GeneMap99-GB4 RH Map10538.37UniSTS
G20611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,274,138 - 124,274,410UniSTSGRCh37
Build 3610124,264,128 - 124,264,400RGDNCBI36
Celera10118,006,397 - 118,006,669RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,092 - 117,905,364UniSTS
A005Z02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,274,138 - 124,274,410UniSTSGRCh37
Build 3610124,264,128 - 124,264,400RGDNCBI36
Celera10118,006,397 - 118,006,669RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,092 - 117,905,364UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
PRSS11_3850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,273,732 - 124,274,547UniSTSGRCh37
Build 3610124,263,722 - 124,264,537RGDNCBI36
Celera10118,005,991 - 118,006,806RGD
HuRef10117,904,686 - 117,905,501UniSTS
G06946  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,054 - 117,905,171UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2421 2788 2239 4974 1722 2338 5 623 1403 464 2270 6756 5938 43 3732 1 852 1741 1604 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF070555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF157623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI423369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX842242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA633502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368984   ⟹   ENSP00000357980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,461,553 - 122,514,907 (+)Ensembl
Ensembl Acc Id: ENST00000420892   ⟹   ENSP00000412676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,506,691 - 122,514,907 (+)Ensembl
Ensembl Acc Id: ENST00000648167   ⟹   ENSP00000498033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,458,551 - 122,514,894 (+)Ensembl
RefSeq Acc Id: NM_002775   ⟹   NP_002766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,461,553 - 122,514,907 (+)NCBI
GRCh3710124,221,041 - 124,274,424 (+)ENTREZGENE
Build 3610124,211,047 - 124,264,413 (+)NCBI Archive
HuRef10117,851,770 - 117,905,378 (+)ENTREZGENE
CHM1_110124,505,637 - 124,559,026 (+)NCBI
T2T-CHM13v2.010123,357,406 - 123,410,753 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002766   ⟸   NM_002775
- Peptide Label: precursor
- UniProtKB: D3DRE4 (UniProtKB/Swiss-Prot),   Q9UNS5 (UniProtKB/Swiss-Prot),   Q92743 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000498033   ⟸   ENST00000648167
Ensembl Acc Id: ENSP00000357980   ⟸   ENST00000368984
Ensembl Acc Id: ENSP00000412676   ⟸   ENST00000420892
Protein Domains
IGFBP N-terminal   Kazal-like   PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92743-F1-model_v2 AlphaFold Q92743 1-480 view protein structure

Promoters
RGD ID:7218863
Promoter ID:EPDNEW_H15177
Type:initiation region
Name:HTRA1_1
Description:HtrA serine peptidase 1
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
GRCh3810122,461,585 - 122,461,645EPDNEW
RGD ID:6787771
Promoter ID:HG_KWN:11478
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_002775
Position:
Human AssemblyChrPosition (strand)Source
Build 3610124,210,941 - 124,211,441 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9476 AgrOrtholog
COSMIC HTRA1 COSMIC
Ensembl Genes ENSG00000166033 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000368984 ENTREZGENE
  ENST00000368984.8 UniProtKB/Swiss-Prot
  ENST00000420892.1 UniProtKB/TrEMBL
  ENST00000648167.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.10.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000166033 GTEx
HGNC ID HGNC:9476 ENTREZGENE
Human Proteome Map HTRA1 Human Proteome Map
InterPro Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  IGFBP-like UniProtKB/Swiss-Prot
  Kazal_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5654 UniProtKB/Swiss-Prot
NCBI Gene 5654 ENTREZGENE
OMIM 602194 OMIM
PANTHER SERINE PROTEASE FAMILY S1C HTRA-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE PROTEASE HTRA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IGFBP UniProtKB/Swiss-Prot
  Kazal_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33829 PharmGKB
PRINTS PROTEASES2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IGFBP_N_2 UniProtKB/Swiss-Prot
  KAZAL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KAZAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00121 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF100895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot
UniProt A0A3B3IU24_HUMAN UniProtKB/TrEMBL
  D3DRE4 ENTREZGENE
  H0Y7G9_HUMAN UniProtKB/TrEMBL
  HTRA1_HUMAN UniProtKB/Swiss-Prot
  Q05DJ8_HUMAN UniProtKB/TrEMBL
  Q92743 ENTREZGENE
  Q9UNS5 ENTREZGENE
UniProt Secondary D3DRE4 UniProtKB/Swiss-Prot
  Q9UNS5 UniProtKB/Swiss-Prot