C1QA (complement C1q A chain) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: C1QA (complement C1q A chain) Homo sapiens
Analyze
Symbol: C1QA
Name: complement C1q A chain
RGD ID: 1315493
HGNC Page HGNC:1241
Description: Predicted to enable amyloid-beta binding activity. Involved in complement activation, classical pathway. Located in collagen-containing extracellular matrix. Part of complement component C1q complex. Implicated in glomerulonephritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1QD1; complement C1q chain A; complement C1q subcomponent subunit A; complement component 1, q subcomponent, A chain; complement component 1, q subcomponent, alpha polypeptide; complement component C1q, A chain
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
GRCh38122,636,463 - 22,639,678 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,635,077 - 22,639,678 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,962,956 - 22,966,171 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,835,705 - 22,838,762 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,709,405 - 22,711,405NCBI
Celera121,287,826 - 21,290,883 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef121,207,463 - 21,210,520 (+)NCBIHuRef
CHM1_1123,075,637 - 23,078,694 (+)NCBICHM1_1
T2T-CHM13v2.0122,461,488 - 22,464,703 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxy-TEMPO  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
amitriptyline  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (ISO)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
cisplatin  (ISO)
coenzyme Q10  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doramapimod  (ISO)
doxorubicin  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
genistein  (ISO)
gentamycin  (ISO)
heptachlor  (ISO)
indoles  (ISO)
ketamine  (ISO)
lansoprazole  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lycopene  (ISO)
medroxyprogesterone acetate  (EXP)
mercaptopurine  (ISO)
methcathinone  (EXP)
methimazole  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
omeprazole  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
pantoprazole  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
purine-6-thiol  (ISO)
rabeprazole  (ISO)
resveratrol  (ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trimellitic anhydride  (ISO)
trimethyltin  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Iron deficiency alters expression of genes implicated in Alzheimer disease pathogenesis. Carlson ES, etal., Brain Res. 2008 Aug 7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. The terminal pathway of the complement system is activated in focal penetrating but not in mild diffuse traumatic brain injury. Rostami E, etal., J Neurotrauma. 2013 Dec 1;30(23):1954-65. doi: 10.1089/neu.2012.2583. Epub 2013 Oct 30.
9. Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. Topaloglu R, etal., Kidney Int. 1996 Aug;50(2):635-42.
10. 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.
Additional References at PubMed
PMID:7240   PMID:486087   PMID:814163   PMID:1249422   PMID:1431141   PMID:1537612   PMID:1706597   PMID:1744579   PMID:1875953   PMID:2372546   PMID:6981115   PMID:6981411  
PMID:7507842   PMID:7642209   PMID:7739575   PMID:7939135   PMID:8172568   PMID:8195709   PMID:8245486   PMID:8252810   PMID:8417122   PMID:8778019   PMID:9013976   PMID:9052718  
PMID:9184145   PMID:9223728   PMID:9225968   PMID:9443108   PMID:9444979   PMID:9461517   PMID:9476117   PMID:9777412   PMID:9780209   PMID:10490997   PMID:10504397   PMID:10528211  
PMID:10878362   PMID:11318594   PMID:11527969   PMID:11714829   PMID:12396016   PMID:12477932   PMID:12630757   PMID:12645945   PMID:12847249   PMID:12960167   PMID:15034050   PMID:15174051  
PMID:15231748   PMID:15269255   PMID:15489334   PMID:15878871   PMID:16046396   PMID:16335952   PMID:16465510   PMID:16566583   PMID:16710414   PMID:17207965   PMID:17213182   PMID:17929239  
PMID:18029348   PMID:18054386   PMID:18174230   PMID:18250442   PMID:18406463   PMID:18504288   PMID:18505047   PMID:18927313   PMID:19423540   PMID:19440201   PMID:19484134   PMID:19493541  
PMID:19656971   PMID:19896716   PMID:19913121   PMID:20008834   PMID:20139276   PMID:20237496   PMID:20332777   PMID:20406964   PMID:20438785   PMID:20496011   PMID:20528885   PMID:20560256  
PMID:20628086   PMID:21054788   PMID:21134100   PMID:21159384   PMID:21256764   PMID:21343881   PMID:21382349   PMID:21429584   PMID:21862594   PMID:21951915   PMID:21968398   PMID:21988832  
PMID:22236909   PMID:22260551   PMID:22321011   PMID:22356764   PMID:22430737   PMID:22472776   PMID:22700724   PMID:22740328   PMID:22879587   PMID:23080069   PMID:23086952   PMID:23376485  
PMID:23607884   PMID:23650384   PMID:23720782   PMID:23991234   PMID:24053688   PMID:24331529   PMID:24395916   PMID:24557008   PMID:24591625   PMID:24647646   PMID:24739385   PMID:24747831  
PMID:25184227   PMID:25301945   PMID:25464930   PMID:25487697   PMID:25491308   PMID:25817358   PMID:26095468   PMID:26175731   PMID:26410546   PMID:26465331   PMID:26563161   PMID:26829984  
PMID:26831747   PMID:27085202   PMID:27267200   PMID:27333900   PMID:27573737   PMID:27630215   PMID:27648858   PMID:27687635   PMID:27698012   PMID:27731323   PMID:28018340   PMID:28104818  
PMID:28225862   PMID:28325905   PMID:28601358   PMID:28675934   PMID:28687659   PMID:29449492   PMID:29559654   PMID:30405622   PMID:30427941   PMID:30628497   PMID:30926239   PMID:31019999  
PMID:31028070   PMID:31112138   PMID:31164356   PMID:31315998   PMID:31541546   PMID:32139604   PMID:32296183   PMID:32556499   PMID:32867128   PMID:32869492   PMID:33069087   PMID:33131194  
PMID:33133060   PMID:33182045   PMID:33847928   PMID:33961781   PMID:34077925   PMID:34099652   PMID:34155115   PMID:34320915   PMID:34602056   PMID:34804054   PMID:34932275   PMID:35605301  
PMID:35733178   PMID:35948870   PMID:35992747   PMID:36443341   PMID:36574265   PMID:36705413   PMID:36716536   PMID:37235963   PMID:37334363   PMID:37376569   PMID:37550830   PMID:38113892  
PMID:38155969   PMID:38179058  


Genomics

Comparative Map Data
C1QA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38122,636,463 - 22,639,678 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,635,077 - 22,639,678 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,962,956 - 22,966,171 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,835,705 - 22,838,762 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,709,405 - 22,711,405NCBI
Celera121,287,826 - 21,290,883 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef121,207,463 - 21,210,520 (+)NCBIHuRef
CHM1_1123,075,637 - 23,078,694 (+)NCBICHM1_1
T2T-CHM13v2.0122,461,488 - 22,464,703 (+)NCBIT2T-CHM13v2.0
C1qa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394136,623,227 - 136,626,155 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4136,623,228 - 136,626,114 (-)EnsemblGRCm39 Ensembl
GRCm384136,895,916 - 136,898,844 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4136,895,917 - 136,898,803 (-)EnsemblGRCm38mm10GRCm38
MGSCv374136,451,831 - 136,454,759 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364136,167,994 - 136,170,836 (-)NCBIMGSCv36mm8
Celera4135,103,233 - 135,106,157 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map469.05NCBI
C1qa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85154,417,086 - 154,419,933 (-)NCBIGRCr8
mRatBN7.25149,133,635 - 149,136,482 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5149,133,636 - 149,136,534 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5151,831,406 - 151,834,253 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05153,605,693 - 153,608,540 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05153,587,691 - 153,590,538 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05155,261,254 - 155,264,101 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5155,261,250 - 155,264,143 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,023,753 - 159,026,600 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45155,662,333 - 155,665,180 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15155,672,371 - 155,675,219 (-)NCBI
Celera5147,531,382 - 147,534,229 (-)NCBICelera
Cytogenetic Map5q36NCBI
C1qa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554522,752,970 - 2,756,488 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554522,753,362 - 2,756,220 (+)NCBIChiLan1.0ChiLan1.0
C1QA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21204,307,981 - 204,311,074 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11203,410,999 - 203,414,092 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0121,821,927 - 21,825,020 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1122,770,557 - 22,773,682 (+)NCBIpanpan1.1PanPan1.1panPan2
C1QA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,668,086 - 76,671,082 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,668,217 - 76,670,977 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha273,172,967 - 73,175,970 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0277,227,331 - 77,230,335 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl277,227,333 - 77,230,230 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1274,048,204 - 74,051,200 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,056,639 - 75,059,641 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0276,060,247 - 76,063,252 (-)NCBIUU_Cfam_GSD_1.0
C1qa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505842,183,130 - 42,185,545 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364748,008,534 - 8,010,191 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364748,007,953 - 8,010,591 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C1QA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl680,586,280 - 80,589,204 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1680,586,259 - 80,589,213 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2674,610,025 - 74,612,855 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C1QA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120110,024,847 - 110,027,868 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660336,286,037 - 6,289,144 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C1qa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247647,363,567 - 7,366,617 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247647,363,615 - 7,366,408 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1QA
122 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter) single nucleotide variant C1Q deficiency [RCV000018602]|not provided [RCV002513106] Chr1:22639291 [GRCh38]
Chr1:22965784 [GRCh37]
Chr1:1p36.12		 pathogenic
GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1 copy number loss See cases [RCV000138071] Chr1:21399130..22696747 [GRCh38]
Chr1:21725623..23023240 [GRCh37]
Chr1:21598210..22895827 [NCBI36]
Chr1:1p36.12		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
chr1:17555508-24706269 complex variant complex Breast ductal adenocarcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
NM_015991.4(C1QA):c.605C>T (p.Ser202Leu) single nucleotide variant not provided [RCV000722224] Chr1:22639274 [GRCh38]
Chr1:22965767 [GRCh37]
Chr1:1p36.12		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter) single nucleotide variant C1Q deficiency [RCV000508985] Chr1:22639317 [GRCh38]
Chr1:22965810 [GRCh37]
Chr1:1p36.12		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_015991.4(C1QA):c.217C>G (p.Pro73Ala) single nucleotide variant Inborn genetic diseases [RCV003256963] Chr1:22638886 [GRCh38]
Chr1:22965379 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.539G>A (p.Arg180Lys) single nucleotide variant Inborn genetic diseases [RCV003299720] Chr1:22639208 [GRCh38]
Chr1:22965701 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) single nucleotide variant C1Q deficiency [RCV000625107]|C1QA-related disorder [RCV003983147]|not provided [RCV000885716] Chr1:22637683 [GRCh38]
Chr1:22964176 [GRCh37]
Chr1:1p36.12		 benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_015991.4(C1QA):c.469G>T (p.Gly157Cys) single nucleotide variant not provided [RCV001585551] Chr1:22639138 [GRCh38]
Chr1:22965631 [GRCh37]
Chr1:1p36.12		 likely pathogenic
NM_015991.4(C1QA):c.474C>T (p.Tyr158=) single nucleotide variant not provided [RCV000983010] Chr1:22639143 [GRCh38]
Chr1:22965636 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.735C>T (p.Ala245=) single nucleotide variant not provided [RCV000973273] Chr1:22639404 [GRCh38]
Chr1:22965897 [GRCh37]
Chr1:1p36.12		 benign
NM_015991.4(C1QA):c.525C>T (p.Ile175=) single nucleotide variant not provided [RCV000972575] Chr1:22639194 [GRCh38]
Chr1:22965687 [GRCh37]
Chr1:1p36.12		 benign|likely benign
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) single nucleotide variant C1Q deficiency 1 [RCV003984847]|C1Q deficiency [RCV001028023]|not provided [RCV000788607] Chr1:22639139 [GRCh38]
Chr1:22965632 [GRCh37]
Chr1:1p36.12		 likely pathogenic|uncertain significance
NM_015991.4(C1QA):c.354C>T (p.Ser118=) single nucleotide variant not provided [RCV003104966] Chr1:22639023 [GRCh38]
Chr1:22965516 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.271C>T (p.Leu91Phe) single nucleotide variant not provided [RCV001702148] Chr1:22638940 [GRCh38]
Chr1:22965433 [GRCh37]
Chr1:1p36.12		 likely benign
NC_000001.10:g.(?_19199339)_(22987879_?)dup duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
NM_015991.4(C1QA):c.376A>G (p.Met126Val) single nucleotide variant not provided [RCV000910824] Chr1:22639045 [GRCh38]
Chr1:22965538 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.581A>C (p.Asn194Thr) single nucleotide variant not provided [RCV001730245] Chr1:22639250 [GRCh38]
Chr1:22965743 [GRCh37]
Chr1:1p36.12		 likely benign|uncertain significance
GRCh37/hg19 1p36.12(chr1:22883477-22973340)x1 copy number loss not provided [RCV001005075] Chr1:22883477..22973340 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) indel C1Q deficiency [RCV001251118] Chr1:22638879 [GRCh38]
Chr1:22965372 [GRCh37]
Chr1:1p36.12		 likely pathogenic
NM_015991.4(C1QA):c.39G>C (p.Leu13=) single nucleotide variant not provided [RCV001433237] Chr1:22637655 [GRCh38]
Chr1:22964148 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.113G>A (p.Arg38Lys) single nucleotide variant not provided [RCV001373120] Chr1:22637729 [GRCh38]
Chr1:22964222 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.125G>A (p.Arg42Gln) single nucleotide variant not provided [RCV001366125] Chr1:22637741 [GRCh38]
Chr1:22964234 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.534C>T (p.Ser178=) single nucleotide variant not provided [RCV001510708] Chr1:22639203 [GRCh38]
Chr1:22965696 [GRCh37]
Chr1:1p36.12		 benign
NM_015991.4(C1QA):c.276A>G (p.Gly92=) single nucleotide variant C1Q deficiency [RCV001554618]|not provided [RCV001517459]|not specified [RCV001529957] Chr1:22638945 [GRCh38]
Chr1:22965438 [GRCh37]
Chr1:1p36.12		 benign
NM_015991.4(C1QA):c.639C>A (p.Asp213Glu) single nucleotide variant Inborn genetic diseases [RCV003162117]|not provided [RCV003108675] Chr1:22639308 [GRCh38]
Chr1:22965801 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.79C>T (p.Arg27Ter) single nucleotide variant C1Q deficiency [RCV001806361]|not provided [RCV001869567] Chr1:22637695 [GRCh38]
Chr1:22964188 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic|uncertain significance
NM_015991.4(C1QA):c.655A>G (p.Lys219Glu) single nucleotide variant not provided [RCV002003543] Chr1:22639324 [GRCh38]
Chr1:22965817 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.380G>C (p.Gly127Ala) single nucleotide variant not provided [RCV002039298] Chr1:22639049 [GRCh38]
Chr1:22965542 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.216A>C (p.Glu72Asp) single nucleotide variant not provided [RCV001983619] Chr1:22638885 [GRCh38]
Chr1:22965378 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.291G>A (p.Pro97=) single nucleotide variant not provided [RCV001985342] Chr1:22638960 [GRCh38]
Chr1:22965453 [GRCh37]
Chr1:1p36.12		 likely benign|uncertain significance
NM_015991.4(C1QA):c.11C>G (p.Pro4Arg) single nucleotide variant C1Q deficiency [RCV002471205]|not provided [RCV001969029] Chr1:22637627 [GRCh38]
Chr1:22964120 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.582C>G (p.Asn194Lys) single nucleotide variant not provided [RCV002042739] Chr1:22639251 [GRCh38]
Chr1:22965744 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.67G>C (p.Glu23Gln) single nucleotide variant not provided [RCV001909451] Chr1:22637683 [GRCh38]
Chr1:22964176 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.220G>A (p.Gly74Arg) single nucleotide variant not provided [RCV001891178] Chr1:22638889 [GRCh38]
Chr1:22965382 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.179G>A (p.Arg60Gln) single nucleotide variant Inborn genetic diseases [RCV004041820]|not provided [RCV001946034] Chr1:22638848 [GRCh38]
Chr1:22965341 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.359T>C (p.Ile120Thr) single nucleotide variant not provided [RCV001877488] Chr1:22639028 [GRCh38]
Chr1:22965521 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.80G>A (p.Arg27Gln) single nucleotide variant not provided [RCV001941319] Chr1:22637696 [GRCh38]
Chr1:22964189 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.673C>A (p.His225Asn) single nucleotide variant not provided [RCV002031414] Chr1:22639342 [GRCh38]
Chr1:22965835 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.388G>A (p.Val130Met) single nucleotide variant not provided [RCV001926232] Chr1:22639057 [GRCh38]
Chr1:22965550 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.586G>A (p.Gly196Arg) single nucleotide variant not provided [RCV001921483] Chr1:22639255 [GRCh38]
Chr1:22965748 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.593T>G (p.Phe198Cys) single nucleotide variant not provided [RCV001954037] Chr1:22639262 [GRCh38]
Chr1:22965755 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.162G>A (p.Pro54=) single nucleotide variant C1Q deficiency [RCV003224593]|not provided [RCV001982598] Chr1:22637778 [GRCh38]
Chr1:22964271 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.303C>T (p.Gly101=) single nucleotide variant not provided [RCV001962802] Chr1:22638972 [GRCh38]
Chr1:22965465 [GRCh37]
Chr1:1p36.12		 likely benign|uncertain significance
NM_015991.4(C1QA):c.449G>A (p.Arg150Gln) single nucleotide variant not provided [RCV001886005] Chr1:22639118 [GRCh38]
Chr1:22965611 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.598G>C (p.Val200Leu) single nucleotide variant not provided [RCV001994351] Chr1:22639267 [GRCh38]
Chr1:22965760 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.378G>T (p.Met126Ile) single nucleotide variant Inborn genetic diseases [RCV002642101]|not provided [RCV002013208] Chr1:22639047 [GRCh38]
Chr1:22965540 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.13C>T (p.Arg5Trp) single nucleotide variant not provided [RCV001864911] Chr1:22637629 [GRCh38]
Chr1:22964122 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.668A>G (p.Lys223Arg) single nucleotide variant not provided [RCV002031275] Chr1:22639337 [GRCh38]
Chr1:22965830 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.218C>T (p.Pro73Leu) single nucleotide variant not provided [RCV002016102] Chr1:22638887 [GRCh38]
Chr1:22965380 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.497T>C (p.Leu166Pro) single nucleotide variant not provided [RCV001980559] Chr1:22639166 [GRCh38]
Chr1:22965659 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.695C>T (p.Ala232Val) single nucleotide variant not provided [RCV002035163] Chr1:22639364 [GRCh38]
Chr1:22965857 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.19T>C (p.Trp7Arg) single nucleotide variant not provided [RCV001971981] Chr1:22637635 [GRCh38]
Chr1:22964128 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.412A>G (p.Thr138Ala) single nucleotide variant not provided [RCV001924179] Chr1:22639081 [GRCh38]
Chr1:22965574 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.151_152insCGGGTAAGCA (p.Gln51fs) insertion not provided [RCV001905490] Chr1:22637767..22637768 [GRCh38]
Chr1:22964260..22964261 [GRCh37]
Chr1:1p36.12		 pathogenic|uncertain significance
NM_015991.4(C1QA):c.724T>C (p.Phe242Leu) single nucleotide variant not provided [RCV002017994] Chr1:22639393 [GRCh38]
Chr1:22965886 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.244G>T (p.Val82Leu) single nucleotide variant not provided [RCV002046392] Chr1:22638913 [GRCh38]
Chr1:22965406 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.295A>C (p.Ile99Leu) single nucleotide variant not provided [RCV002014037] Chr1:22638964 [GRCh38]
Chr1:22965457 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.545A>T (p.Gln182Leu) single nucleotide variant not provided [RCV002016990] Chr1:22639214 [GRCh38]
Chr1:22965707 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.253C>G (p.Pro85Ala) single nucleotide variant Inborn genetic diseases [RCV002569170]|not provided [RCV001954177] Chr1:22638922 [GRCh38]
Chr1:22965415 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.61G>A (p.Val21Met) single nucleotide variant not provided [RCV001901422] Chr1:22637677 [GRCh38]
Chr1:22964170 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.47C>T (p.Ser16Leu) single nucleotide variant not provided [RCV002033797] Chr1:22637663 [GRCh38]
Chr1:22964156 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.131G>A (p.Arg44Gln) single nucleotide variant not provided [RCV001940150] Chr1:22637747 [GRCh38]
Chr1:22964240 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.16G>A (p.Gly6Arg) single nucleotide variant not provided [RCV001978590] Chr1:22637632 [GRCh38]
Chr1:22964125 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.164-2A>C single nucleotide variant not provided [RCV001972089] Chr1:22638831 [GRCh38]
Chr1:22965324 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.178C>T (p.Arg60Trp) single nucleotide variant Inborn genetic diseases [RCV004040584]|not provided [RCV001900287] Chr1:22638847 [GRCh38]
Chr1:22965340 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.330G>A (p.Lys110=) single nucleotide variant not provided [RCV002205834] Chr1:22638999 [GRCh38]
Chr1:22965492 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV002081148] Chr1:22637643 [GRCh38]
Chr1:22964136 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.309G>A (p.Lys103=) single nucleotide variant not provided [RCV002211865] Chr1:22638978 [GRCh38]
Chr1:22965471 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.324C>T (p.Asn108=) single nucleotide variant not provided [RCV002171030] Chr1:22638993 [GRCh38]
Chr1:22965486 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.660C>T (p.Asp220=) single nucleotide variant not provided [RCV002079488] Chr1:22639329 [GRCh38]
Chr1:22965822 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.90C>T (p.Asp30=) single nucleotide variant not provided [RCV002136368] Chr1:22637706 [GRCh38]
Chr1:22964199 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.633G>A (p.Gln211=) single nucleotide variant not provided [RCV002101014] Chr1:22639302 [GRCh38]
Chr1:22965795 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.570T>C (p.Cys190=) single nucleotide variant not provided [RCV002182106] Chr1:22639239 [GRCh38]
Chr1:22965732 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.495G>A (p.Val165=) single nucleotide variant not provided [RCV002217624] Chr1:22639164 [GRCh38]
Chr1:22965657 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.312C>A (p.Gly104=) single nucleotide variant not provided [RCV002124010] Chr1:22638981 [GRCh38]
Chr1:22965474 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.164-20T>C single nucleotide variant not provided [RCV002138167] Chr1:22638813 [GRCh38]
Chr1:22965306 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.273C>T (p.Leu91=) single nucleotide variant not provided [RCV002201548] Chr1:22638942 [GRCh38]
Chr1:22965435 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.577dup (p.Thr193fs) duplication not provided [RCV003113079] Chr1:22639245..22639246 [GRCh38]
Chr1:22965738..22965739 [GRCh37]
Chr1:1p36.12		 pathogenic
NM_015991.4(C1QA):c.66C>T (p.Thr22=) single nucleotide variant not provided [RCV003112983] Chr1:22637682 [GRCh38]
Chr1:22964175 [GRCh37]
Chr1:1p36.12		 likely benign
NC_000001.10:g.(?_19199339)_(24690861_?)dup duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
NM_015991.4(C1QA):c.326T>A (p.Ile109Asn) single nucleotide variant not provided [RCV002297116] Chr1:22638995 [GRCh38]
Chr1:22965488 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.684G>A (p.Gln228=) single nucleotide variant not provided [RCV002727178] Chr1:22639353 [GRCh38]
Chr1:22965846 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.405G>A (p.Thr135=) single nucleotide variant not provided [RCV002614574] Chr1:22639074 [GRCh38]
Chr1:22965567 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.588G>T (p.Gly196=) single nucleotide variant not provided [RCV003014450] Chr1:22639257 [GRCh38]
Chr1:22965750 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.264C>T (p.Ser88=) single nucleotide variant not provided [RCV002616319] Chr1:22638933 [GRCh38]
Chr1:22965426 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.129del (p.Arg44fs) deletion not provided [RCV002880660] Chr1:22637741 [GRCh38]
Chr1:22964234 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.39G>A (p.Leu13=) single nucleotide variant not provided [RCV003012325] Chr1:22637655 [GRCh38]
Chr1:22964148 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.541G>C (p.Gly181Arg) single nucleotide variant Inborn genetic diseases [RCV002973358] Chr1:22639210 [GRCh38]
Chr1:22965703 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.533C>T (p.Ser178Phe) single nucleotide variant Inborn genetic diseases [RCV003170786]|not provided [RCV002972452] Chr1:22639202 [GRCh38]
Chr1:22965695 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.658G>A (p.Asp220Asn) single nucleotide variant not provided [RCV002591067] Chr1:22639327 [GRCh38]
Chr1:22965820 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.400G>A (p.Asp134Asn) single nucleotide variant not provided [RCV002796065] Chr1:22639069 [GRCh38]
Chr1:22965562 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.169C>T (p.Pro57Ser) single nucleotide variant not provided [RCV002569839] Chr1:22638838 [GRCh38]
Chr1:22965331 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.396C>T (p.Ile132=) single nucleotide variant not provided [RCV002885092] Chr1:22639065 [GRCh38]
Chr1:22965558 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.79C>G (p.Arg27Gly) single nucleotide variant not provided [RCV002805346] Chr1:22637695 [GRCh38]
Chr1:22964188 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.164-15C>T single nucleotide variant not provided [RCV002667391] Chr1:22638818 [GRCh38]
Chr1:22965311 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.164-9T>C single nucleotide variant not provided [RCV002918551] Chr1:22638824 [GRCh38]
Chr1:22965317 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.120C>A (p.Gly40=) single nucleotide variant not provided [RCV002790849] Chr1:22637736 [GRCh38]
Chr1:22964229 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.610G>A (p.Gly204Ser) single nucleotide variant not provided [RCV002711339] Chr1:22639279 [GRCh38]
Chr1:22965772 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.225C>A (p.Pro75=) single nucleotide variant not provided [RCV002812148] Chr1:22638894 [GRCh38]
Chr1:22965387 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.373C>G (p.Pro125Ala) single nucleotide variant not provided [RCV003045862] Chr1:22639042 [GRCh38]
Chr1:22965535 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.14G>A (p.Arg5Gln) single nucleotide variant not provided [RCV002602694] Chr1:22637630 [GRCh38]
Chr1:22964123 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.116C>T (p.Pro39Leu) single nucleotide variant not provided [RCV002598423] Chr1:22637732 [GRCh38]
Chr1:22964225 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.494T>C (p.Val165Ala) single nucleotide variant Inborn genetic diseases [RCV002959295] Chr1:22639163 [GRCh38]
Chr1:22965656 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.91G>A (p.Gly31Arg) single nucleotide variant not provided [RCV002648139] Chr1:22637707 [GRCh38]
Chr1:22964200 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.209del (p.Gln70fs) deletion not provided [RCV002717262] Chr1:22638878 [GRCh38]
Chr1:22965371 [GRCh37]
Chr1:1p36.12		 pathogenic
NM_015991.4(C1QA):c.250T>C (p.Tyr84His) single nucleotide variant not provided [RCV002834273] Chr1:22638919 [GRCh38]
Chr1:22965412 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.434A>G (p.Gln145Arg) single nucleotide variant not provided [RCV002631904] Chr1:22639103 [GRCh38]
Chr1:22965596 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.185G>T (p.Gly62Val) single nucleotide variant not provided [RCV002716732] Chr1:22638854 [GRCh38]
Chr1:22965347 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.234C>T (p.Asn78=) single nucleotide variant not provided [RCV002811994] Chr1:22638903 [GRCh38]
Chr1:22965396 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.163+16C>G single nucleotide variant not provided [RCV002722131] Chr1:22637795 [GRCh38]
Chr1:22964288 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.475T>C (p.Tyr159His) single nucleotide variant not provided [RCV002814973] Chr1:22639144 [GRCh38]
Chr1:22965637 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.582C>A (p.Asn194Lys) single nucleotide variant not provided [RCV002635140] Chr1:22639251 [GRCh38]
Chr1:22965744 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.163+6C>T single nucleotide variant not provided [RCV002605763] Chr1:22637785 [GRCh38]
Chr1:22964278 [GRCh37]
Chr1:1p36.12		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12		 likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_015991.4(C1QA):c.306_307insG (p.Lys103fs) insertion not provided [RCV003694736] Chr1:22638975..22638976 [GRCh38]
Chr1:22965468..22965469 [GRCh37]
Chr1:1p36.12		 pathogenic
NM_015991.4(C1QA):c.444C>T (p.Ser148=) single nucleotide variant not provided [RCV003714952] Chr1:22639113 [GRCh38]
Chr1:22965606 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.653A>G (p.Glu218Gly) single nucleotide variant not provided [RCV003829213] Chr1:22639322 [GRCh38]
Chr1:22965815 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.163+17G>A single nucleotide variant not provided [RCV003827242] Chr1:22637796 [GRCh38]
Chr1:22964289 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.163+16C>T single nucleotide variant not provided [RCV003811218] Chr1:22637795 [GRCh38]
Chr1:22964288 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.498G>T (p.Leu166=) single nucleotide variant not provided [RCV003855900] Chr1:22639167 [GRCh38]
Chr1:22965660 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.24G>A (p.Leu8=) single nucleotide variant not provided [RCV003659199] Chr1:22637640 [GRCh38]
Chr1:22964133 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.468C>T (p.Pro156=) single nucleotide variant not provided [RCV003836289] Chr1:22639137 [GRCh38]
Chr1:22965630 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.141C>A (p.Leu47=) single nucleotide variant not provided [RCV003836376] Chr1:22637757 [GRCh38]
Chr1:22964250 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.711C>T (p.Ser237=) single nucleotide variant not provided [RCV003865373] Chr1:22639380 [GRCh38]
Chr1:22965873 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.7G>C (p.Gly3Arg) single nucleotide variant not provided [RCV003680682] Chr1:22637623 [GRCh38]
Chr1:22964116 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.163+13C>T single nucleotide variant not provided [RCV003686126] Chr1:22637792 [GRCh38]
Chr1:22964285 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.462T>A (p.Thr154=) single nucleotide variant not provided [RCV003822664] Chr1:22639131 [GRCh38]
Chr1:22965624 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.550C>A (p.Arg184=) single nucleotide variant not provided [RCV003847248] Chr1:22639219 [GRCh38]
Chr1:22965712 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.438C>T (p.Asn146=) single nucleotide variant not provided [RCV003684279] Chr1:22639107 [GRCh38]
Chr1:22965600 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.408C>T (p.Val136=) single nucleotide variant not provided [RCV003711134] Chr1:22639077 [GRCh38]
Chr1:22965570 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.573C>T (p.Asp191=) single nucleotide variant not provided [RCV003852902] Chr1:22639242 [GRCh38]
Chr1:22965735 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.213G>A (p.Gly71=) single nucleotide variant not provided [RCV003861615] Chr1:22638882 [GRCh38]
Chr1:22965375 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.195C>G (p.Gly65=) single nucleotide variant C1QA-related disorder [RCV003901499] Chr1:22638864 [GRCh38]
Chr1:22965357 [GRCh37]
Chr1:1p36.12		 likely benign
NM_015991.4(C1QA):c.179G>T (p.Arg60Leu) single nucleotide variant Inborn genetic diseases [RCV004429504] Chr1:22638848 [GRCh38]
Chr1:22965341 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.597G>C (p.Gln199His) single nucleotide variant Inborn genetic diseases [RCV004429505] Chr1:22639266 [GRCh38]
Chr1:22965759 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.634G>A (p.Gly212Ser) single nucleotide variant Inborn genetic diseases [RCV004429506] Chr1:22639303 [GRCh38]
Chr1:22965796 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_015991.4(C1QA):c.648G>T (p.Trp216Cys) single nucleotide variant Inborn genetic diseases [RCV004429507] Chr1:22639317 [GRCh38]
Chr1:22965810 [GRCh37]
Chr1:1p36.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:988
Count of miRNA genes:439
Interacting mature miRNAs:488
Transcripts:ENST00000374642, ENST00000402322, ENST00000438241
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
406989613GWAS638589_Hinflammatory biomarker measurement QTL GWAS638589 (human)1e-73inflammatory biomarker measurement12263768322637684Human

Markers in Region
D1S3273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,965,955 - 22,966,085UniSTSGRCh37
Build 36122,838,542 - 22,838,672RGDNCBI36
Celera121,290,663 - 21,290,793RGD
Cytogenetic Map1p36.12UniSTS
HuRef121,210,300 - 21,210,430UniSTS
TNG Radiation Hybrid Map19011.0UniSTS
Stanford-G3 RH Map11002.0UniSTS
GeneMap99-G3 RH Map11272.0UniSTS
WI-8760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,965,877 - 22,965,984UniSTSGRCh37
Build 36122,838,464 - 22,838,571RGDNCBI36
Celera121,290,585 - 21,290,692RGD
Cytogenetic Map1p36.12UniSTS
HuRef121,210,222 - 21,210,329UniSTS
GeneMap99-GB4 RH Map179.87UniSTS
Whitehead-RH Map176.6UniSTS
C1QA_66  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,965,375 - 22,966,181UniSTSGRCh37
Build 36122,837,962 - 22,838,768RGDNCBI36
Celera121,290,083 - 21,290,889RGD
HuRef121,209,720 - 21,210,526UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA985480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF135157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF260332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY789471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG548439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI837739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM920911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX369252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT215188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000374642   ⟹   ENSP00000363773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,628 - 22,639,678 (+)Ensembl
Ensembl Acc Id: ENST00000402322   ⟹   ENSP00000385564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,688 - 22,639,608 (+)Ensembl
Ensembl Acc Id: ENST00000438241   ⟹   ENSP00000416841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,762 - 22,639,608 (+)Ensembl
Ensembl Acc Id: ENST00000695738   ⟹   ENSP00000512131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,635,077 - 22,639,652 (+)Ensembl
Ensembl Acc Id: ENST00000695739   ⟹   ENSP00000512132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,450 - 22,639,678 (+)Ensembl
Ensembl Acc Id: ENST00000695740   ⟹   ENSP00000512133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,463 - 22,639,678 (+)Ensembl
Ensembl Acc Id: ENST00000695741   ⟹   ENSP00000512134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,626 - 22,639,606 (+)Ensembl
Ensembl Acc Id: ENST00000695742   ⟹   ENSP00000512135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,626 - 22,639,606 (+)Ensembl
Ensembl Acc Id: ENST00000695743   ⟹   ENSP00000512136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,626 - 22,639,606 (+)Ensembl
Ensembl Acc Id: ENST00000695744   ⟹   ENSP00000512137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,626 - 22,639,606 (+)Ensembl
Ensembl Acc Id: ENST00000695745   ⟹   ENSP00000512138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,626 - 22,639,607 (+)Ensembl
Ensembl Acc Id: ENST00000695746   ⟹   ENSP00000512139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,636,626 - 22,639,664 (+)Ensembl
RefSeq Acc Id: NM_001347465   ⟹   NP_001334394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,628 - 22,639,678 (+)NCBI
T2T-CHM13v2.0122,461,653 - 22,464,703 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347466   ⟹   NP_001334395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,463 - 22,639,678 (+)NCBI
T2T-CHM13v2.0122,461,488 - 22,464,703 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015991   ⟹   NP_057075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,628 - 22,639,678 (+)NCBI
GRCh37122,963,118 - 22,966,175 (+)ENTREZGENE
Build 36122,835,705 - 22,838,762 (+)NCBI Archive
HuRef121,207,463 - 21,210,520 (+)ENTREZGENE
CHM1_1123,075,637 - 23,078,694 (+)NCBI
T2T-CHM13v2.0122,461,653 - 22,464,703 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057075   ⟸   NM_015991
- Peptide Label: precursor
- UniProtKB: B2R4X2 (UniProtKB/Swiss-Prot),   Q5T963 (UniProtKB/Swiss-Prot),   P02745 (UniProtKB/Swiss-Prot),   A0A024RAG6 (UniProtKB/TrEMBL),   A0A3B0J657 (UniProtKB/TrEMBL),   X6RLJ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334394   ⟸   NM_001347465
- Peptide Label: precursor
- UniProtKB: B2R4X2 (UniProtKB/Swiss-Prot),   Q5T963 (UniProtKB/Swiss-Prot),   P02745 (UniProtKB/Swiss-Prot),   A0A024RAG6 (UniProtKB/TrEMBL),   A0A3B0J657 (UniProtKB/TrEMBL),   X6RLJ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334395   ⟸   NM_001347466
- Peptide Label: precursor
- UniProtKB: B2R4X2 (UniProtKB/Swiss-Prot),   Q5T963 (UniProtKB/Swiss-Prot),   P02745 (UniProtKB/Swiss-Prot),   A0A024RAG6 (UniProtKB/TrEMBL),   A0A3B0J657 (UniProtKB/TrEMBL),   X6RLJ0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000416841   ⟸   ENST00000438241
Ensembl Acc Id: ENSP00000363773   ⟸   ENST00000374642
Ensembl Acc Id: ENSP00000385564   ⟸   ENST00000402322
Ensembl Acc Id: ENSP00000512135   ⟸   ENST00000695742
Ensembl Acc Id: ENSP00000512138   ⟸   ENST00000695745
Ensembl Acc Id: ENSP00000512131   ⟸   ENST00000695738
Ensembl Acc Id: ENSP00000512136   ⟸   ENST00000695743
Ensembl Acc Id: ENSP00000512133   ⟸   ENST00000695740
Ensembl Acc Id: ENSP00000512132   ⟸   ENST00000695739
Ensembl Acc Id: ENSP00000512134   ⟸   ENST00000695741
Ensembl Acc Id: ENSP00000512137   ⟸   ENST00000695744
Ensembl Acc Id: ENSP00000512139   ⟸   ENST00000695746
Protein Domains
C1q   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02745-F1-model_v2 AlphaFold P02745 1-245 view protein structure

Promoters
RGD ID:6854442
Promoter ID:EPDNEW_H386
Type:initiation region
Name:C1QA_1
Description:complement C1q A chain
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
GRCh38122,636,628 - 22,636,688EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1241 AgrOrtholog
COSMIC C1QA COSMIC
Ensembl Genes ENSG00000173372 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374642 ENTREZGENE
  ENST00000374642.8 UniProtKB/Swiss-Prot
  ENST00000402322 ENTREZGENE
  ENST00000402322.2 UniProtKB/Swiss-Prot
  ENST00000438241 ENTREZGENE
  ENST00000438241.1 UniProtKB/TrEMBL
  ENST00000438241.2 UniProtKB/Swiss-Prot
  ENST00000695738.1 UniProtKB/TrEMBL
  ENST00000695739.1 UniProtKB/TrEMBL
  ENST00000695740.1 UniProtKB/Swiss-Prot
  ENST00000695741.1 UniProtKB/TrEMBL
  ENST00000695742.1 UniProtKB/TrEMBL
  ENST00000695743.1 UniProtKB/TrEMBL
  ENST00000695744.1 UniProtKB/Swiss-Prot
  ENST00000695745.1 UniProtKB/TrEMBL
  ENST00000695746.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173372 GTEx
HGNC ID HGNC:1241 ENTREZGENE
Human Proteome Map C1QA Human Proteome Map
InterPro C1q_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen/C1q_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 712 ENTREZGENE
OMIM 120550 OMIM
PANTHER EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15427:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25622 PharmGKB
PRINTS COMPLEMNTC1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAG6 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B0J657 ENTREZGENE
  A0A8Q3SI02_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI08_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI41_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI59_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI63_HUMAN UniProtKB/TrEMBL
  B2R4X2 ENTREZGENE
  C1QA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T963 ENTREZGENE
  X6RLJ0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A3B0J657 UniProtKB/TrEMBL
  B2R4X2 UniProtKB/Swiss-Prot
  Q5T963 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 C1QA  complement C1q A chain  C1QA  complement component 1, q subcomponent, A chain  Symbol and/or name change 5135510 APPROVED