C1QC (complement C1q C chain) - Rat Genome Database

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Gene: C1QC (complement C1q C chain) Homo sapiens
Analyze
Symbol: C1QC
Name: complement C1q C chain
RGD ID: 1315664
HGNC Page HGNC:1245
Description: Involved in complement activation, classical pathway; negative regulation of granulocyte differentiation; and negative regulation of macrophage differentiation. Located in blood microparticle and collagen-containing extracellular matrix. Part of complement component C1q complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1Q-C; C1QD3; C1QG; complement C1q subcomponent subunit C; complement component 1, q subcomponent, C chain; complement component 1, q subcomponent, gamma polypeptide; FLJ27103
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
GRCh38122,643,633 - 22,648,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,643,014 - 22,648,110 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,970,126 - 22,974,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,842,734 - 22,847,190 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,715,452 - 22,719,908NCBI
Celera121,294,833 - 21,299,316 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef121,214,476 - 21,218,943 (+)NCBIHuRef
CHM1_1123,082,633 - 23,087,117 (+)NCBICHM1_1
T2T-CHM13v2.0122,468,666 - 22,473,122 (+)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)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (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)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
amitriptyline  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlormequat chloride  (ISO)
chlorpyrifos  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (ISO)
diclofenac  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folpet  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
imidacloprid  (ISO)
indoles  (ISO)
irinotecan  (ISO)
ketamine  (ISO)
lansoprazole  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
methidathion  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
omeprazole  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
pantoprazole  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
probucol  (ISO)
rabeprazole  (ISO)
resveratrol  (ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
Soman  (ISO)
streptozocin  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. 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:486087   PMID:814163   PMID:1249422   PMID:1537612   PMID:1706597   PMID:1744579   PMID:1875953   PMID:3180845   PMID:7507842   PMID:7590886   PMID:7594474   PMID:7642209  
PMID:7739575   PMID:7939135   PMID:8245486   PMID:8252810   PMID:8630118   PMID:9443108   PMID:9777412   PMID:10504397   PMID:10961870   PMID:11076863   PMID:11318594   PMID:11527969  
PMID:12396016   PMID:12477932   PMID:12645945   PMID:12847249   PMID:12960167   PMID:14702039   PMID:15034050   PMID:15174051   PMID:15353007   PMID:15489334   PMID:15489336   PMID:16344560  
PMID:16381901   PMID:16566583   PMID:16710414   PMID:18029348   PMID:18174230   PMID:18250442   PMID:18504288   PMID:18505047   PMID:18703056   PMID:18838169   PMID:19115936   PMID:19344414  
PMID:19423540   PMID:19493541   PMID:19710097   PMID:19790049   PMID:19913121   PMID:20139276   PMID:20237496   PMID:20406964   PMID:20438785   PMID:20528885   PMID:20628086   PMID:20635792  
PMID:20833838   PMID:21862594   PMID:22264191   PMID:22516433   PMID:22664934   PMID:22740328   PMID:23376485   PMID:23607884   PMID:23650384   PMID:23720782   PMID:23750785   PMID:24157463  
PMID:25037231   PMID:25109258   PMID:26175731   PMID:26410546   PMID:28018340   PMID:28104818   PMID:28344315   PMID:28675934   PMID:29449492   PMID:31019999   PMID:32296183   PMID:33131194  
PMID:33182045   PMID:33961781   PMID:34099652   PMID:34320915   PMID:35765947   PMID:36261009  


Genomics

Comparative Map Data
C1QC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38122,643,633 - 22,648,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,643,014 - 22,648,110 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,970,126 - 22,974,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,842,734 - 22,847,190 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,715,452 - 22,719,908NCBI
Celera121,294,833 - 21,299,316 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef121,214,476 - 21,218,943 (+)NCBIHuRef
CHM1_1123,082,633 - 23,087,117 (+)NCBICHM1_1
T2T-CHM13v2.0122,468,666 - 22,473,122 (+)NCBIT2T-CHM13v2.0
C1qc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394136,617,115 - 136,620,225 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4136,617,115 - 136,620,376 (-)EnsemblGRCm39 Ensembl
GRCm384136,889,801 - 136,892,936 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4136,889,804 - 136,893,065 (-)EnsemblGRCm38mm10GRCm38
MGSCv374136,445,717 - 136,448,829 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364136,161,886 - 136,164,949 (-)NCBIMGSCv36mm8
Celera4135,097,110 - 135,100,232 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map469.05NCBI
C1qc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85154,410,845 - 154,414,208 (-)NCBIGRCr8
mRatBN7.25149,127,412 - 149,130,757 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5149,127,415 - 149,131,017 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5151,825,173 - 151,828,528 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05153,599,460 - 153,602,815 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05153,581,457 - 153,584,813 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05155,255,013 - 155,258,631 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5155,255,005 - 155,258,392 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,017,512 - 159,021,130 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45155,656,104 - 155,659,430 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15155,666,143 - 155,669,469 (-)NCBI
Celera5147,525,168 - 147,528,479 (-)NCBICelera
Cytogenetic Map5q36NCBI
C1qc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554522,758,821 - 2,762,522 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554522,759,079 - 2,762,522 (+)NCBIChiLan1.0ChiLan1.0
C1QC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21204,299,483 - 204,304,030 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11203,402,495 - 203,407,042 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0121,828,969 - 21,833,518 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1122,777,679 - 22,782,176 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl122,770,582 - 22,782,176 (+)Ensemblpanpan1.1panPan2
C1QC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,660,039 - 76,664,602 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,660,035 - 76,664,577 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha273,164,924 - 73,169,492 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0277,219,290 - 77,223,860 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl277,219,286 - 77,223,830 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1274,040,178 - 74,044,743 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,048,597 - 75,053,163 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0276,052,212 - 76,056,780 (-)NCBIUU_Cfam_GSD_1.0
LOC101960229
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505842,188,570 - 42,192,175 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364748,013,359 - 8,016,959 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364748,013,395 - 8,016,937 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C1QC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl680,592,473 - 80,597,452 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1680,592,591 - 80,597,464 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2674,616,498 - 74,621,232 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C1QC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120110,016,355 - 110,021,123 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20110,016,362 - 110,020,854 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660336,293,137 - 6,297,626 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C1qc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247647,369,338 - 7,373,436 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247647,369,365 - 7,373,238 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1QC
129 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_172369.5(C1QC):c.213del (p.Gln74fs) deletion C1Q deficiency 3 [RCV003221348]|not provided [RCV002514111] Chr1:22647256 [GRCh38]
Chr1:22973749 [GRCh37]
Chr1:1p36.12		 pathogenic|uncertain significance
NM_172369.5(C1QC):c.205C>T (p.Arg69Ter) single nucleotide variant C1Q deficiency [RCV000018599]|not provided [RCV001390253] Chr1:22647250 [GRCh38]
Chr1:22973743 [GRCh37]
Chr1:1p36.12		 pathogenic
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) single nucleotide variant C1Q deficiency [RCV000018600]|not provided [RCV001200330] Chr1:22644123 [GRCh38]
Chr1:22970616 [GRCh37]
Chr1:1p36.12		 pathogenic
NM_001114101.1(C1QC):c.491G>A (p.Gly164Asp) single nucleotide variant Malignant melanoma [RCV000064568] Chr1:22647536 [GRCh38]
Chr1:22974029 [GRCh37]
Chr1:22846616 [NCBI36]
Chr1:1p36.12		 not provided
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_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn) indel C1Q deficiency [RCV000767906]|not provided [RCV002067206] Chr1:22644042..22644043 [GRCh38]
Chr1:22970535..22970536 [GRCh37]
Chr1:1p36.12		 likely benign|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_172369.5(C1QC):c.490G>A (p.Gly164Ser) single nucleotide variant C1Q deficiency 3 [RCV003221355]|C1Q deficiency [RCV000508986]|not provided [RCV003546567] Chr1:22647535 [GRCh38]
Chr1:22974028 [GRCh37]
Chr1:1p36.12		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_172369.5(C1QC):c.117C>T (p.Pro39=) single nucleotide variant not provided [RCV000915849] Chr1:22644140 [GRCh38]
Chr1:22970633 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.*272_*273del deletion not provided [RCV001666245] Chr1:22648041..22648042 [GRCh38]
Chr1:22974534..22974535 [GRCh37]
Chr1:1p36.12		 benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p36.12(chr1:22883477-22973340)x1 copy number loss not provided [RCV001005075] Chr1:22883477..22973340 [GRCh37]
Chr1:1p36.12		 uncertain significance
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
NM_172369.5(C1QC):c.182-21C>G single nucleotide variant not provided [RCV001655366] Chr1:22647206 [GRCh38]
Chr1:22973699 [GRCh37]
Chr1:1p36.12		 benign
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_172369.5(C1QC):c.181+211C>T single nucleotide variant not provided [RCV001620110] Chr1:22644415 [GRCh38]
Chr1:22644415..22644416 [GRCh38]
Chr1:22970908 [GRCh37]
Chr1:22970908..22970909 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.19T>A (p.Ser7Thr) single nucleotide variant not provided [RCV000955236] Chr1:22644042 [GRCh38]
Chr1:22970535 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.20C>A (p.Ser7Tyr) single nucleotide variant not provided [RCV000955237] Chr1:22644043 [GRCh38]
Chr1:22970536 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.559G>A (p.Val187Ile) single nucleotide variant not provided [RCV000886980] Chr1:22647604 [GRCh38]
Chr1:22974097 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.181+228T>C single nucleotide variant not provided [RCV001659666] Chr1:22644432 [GRCh38]
Chr1:22970925 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.181+93A>T single nucleotide variant not provided [RCV001657559] Chr1:22644297 [GRCh38]
Chr1:22970790 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.*21C>A single nucleotide variant not provided [RCV001597667] Chr1:22647804 [GRCh38]
Chr1:22974297 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.181+131G>T single nucleotide variant not provided [RCV001688576] Chr1:22644335 [GRCh38]
Chr1:22970828 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.538G>A (p.Val180Met) single nucleotide variant C1Q deficiency [RCV001331842]|Inborn genetic diseases [RCV002546510]|not provided [RCV001859286] Chr1:22647583 [GRCh38]
Chr1:22974076 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.230A>G (p.Glu77Gly) single nucleotide variant not provided [RCV001371977] Chr1:22647275 [GRCh38]
Chr1:22973768 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.199G>A (p.Gly67Arg) single nucleotide variant Inborn genetic diseases [RCV004601474]|not provided [RCV001361119] Chr1:22647244 [GRCh38]
Chr1:22973737 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.213C>G (p.Pro71=) single nucleotide variant not provided [RCV001520110] Chr1:22647258 [GRCh38]
Chr1:22973751 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.150C>T (p.Tyr50=) single nucleotide variant not provided [RCV001438438] Chr1:22644173 [GRCh38]
Chr1:22970666 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.8T>C (p.Val3Ala) single nucleotide variant C1Q deficiency [RCV002070288]|not provided [RCV001509718] Chr1:22644031 [GRCh38]
Chr1:22970524 [GRCh37]
Chr1:1p36.12		 benign|likely benign|uncertain significance
NM_172369.5(C1QC):c.372C>T (p.Val124=) single nucleotide variant not provided [RCV001497091] Chr1:22647417 [GRCh38]
Chr1:22973910 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.126C>T (p.Pro42=) single nucleotide variant not provided [RCV001517460] Chr1:22644149 [GRCh38]
Chr1:22644149..22644150 [GRCh38]
Chr1:22970642 [GRCh37]
Chr1:22970642..22970643 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.175dup (p.Glu59fs) duplication C1Q deficiency [RCV001780696] Chr1:22644193..22644194 [GRCh38]
Chr1:22970686..22970687 [GRCh37]
Chr1:1p36.12		 likely pathogenic
NM_172369.5(C1QC):c.271G>T (p.Gly91Ter) single nucleotide variant not provided [RCV001927631] Chr1:22647316 [GRCh38]
Chr1:22973809 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.551G>A (p.Arg184His) single nucleotide variant not provided [RCV002044997] Chr1:22647596 [GRCh38]
Chr1:22974089 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.460A>G (p.Ser154Gly) single nucleotide variant not provided [RCV002005173] Chr1:22647505 [GRCh38]
Chr1:22973998 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.181+6T>A single nucleotide variant not provided [RCV001970330] Chr1:22644210 [GRCh38]
Chr1:22970703 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.515C>T (p.Ala172Val) single nucleotide variant not provided [RCV002044449] Chr1:22647560 [GRCh38]
Chr1:22974053 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.637G>C (p.Val213Leu) single nucleotide variant not provided [RCV001914182] Chr1:22647682 [GRCh38]
Chr1:22974175 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.531C>A (p.Asn177Lys) single nucleotide variant not provided [RCV002008673] Chr1:22647576 [GRCh38]
Chr1:22974069 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.563A>T (p.Lys188Ile) single nucleotide variant not provided [RCV001871529] Chr1:22647608 [GRCh38]
Chr1:22974101 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.232C>T (p.Pro78Ser) single nucleotide variant not provided [RCV001893638] Chr1:22647277 [GRCh38]
Chr1:22973770 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.376C>T (p.Arg126Trp) single nucleotide variant not provided [RCV002043470] Chr1:22647421 [GRCh38]
Chr1:22973914 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.319G>A (p.Glu107Lys) single nucleotide variant not provided [RCV002039869] Chr1:22647364 [GRCh38]
Chr1:22973857 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.425C>A (p.Ala142Glu) single nucleotide variant not provided [RCV001964539] Chr1:22647470 [GRCh38]
Chr1:22973963 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV001942757] Chr1:22647778 [GRCh38]
Chr1:22974271 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.162G>A (p.Pro54=) single nucleotide variant C1QC-related disorder [RCV003958468]|not provided [RCV002035735] Chr1:22644185 [GRCh38]
Chr1:22970678 [GRCh37]
Chr1:1p36.12		 likely benign|uncertain significance
NM_172369.5(C1QC):c.368C>T (p.Thr123Met) single nucleotide variant not provided [RCV002030525] Chr1:22647413 [GRCh38]
Chr1:22973906 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.556G>A (p.Gly186Ser) single nucleotide variant not provided [RCV001880371] Chr1:22647601 [GRCh38]
Chr1:22974094 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.682G>C (p.Val228Leu) single nucleotide variant not provided [RCV002050990] Chr1:22647727 [GRCh38]
Chr1:22974220 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.4G>A (p.Asp2Asn) single nucleotide variant not provided [RCV002015624] Chr1:22644027 [GRCh38]
Chr1:22970520 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.103A>G (p.Ile35Val) single nucleotide variant not provided [RCV001918394] Chr1:22644126 [GRCh38]
Chr1:22970619 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.152A>T (p.Asp51Val) single nucleotide variant not provided [RCV001877291] Chr1:22644175 [GRCh38]
Chr1:22970668 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.211C>T (p.Pro71Ser) single nucleotide variant not provided [RCV002033501] Chr1:22647256 [GRCh38]
Chr1:22973749 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.445G>A (p.Gly149Arg) single nucleotide variant not provided [RCV002036582] Chr1:22647490 [GRCh38]
Chr1:22973983 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.274C>A (p.Pro92Thr) single nucleotide variant not provided [RCV001954636] Chr1:22647319 [GRCh38]
Chr1:22973812 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.587C>T (p.Thr196Met) single nucleotide variant Inborn genetic diseases [RCV004043497]|not provided [RCV001933280] Chr1:22647632 [GRCh38]
Chr1:22974125 [GRCh37]
Chr1:1p36.12		 likely benign|uncertain significance
NM_172369.5(C1QC):c.580G>A (p.Gly194Ser) single nucleotide variant not provided [RCV002048125] Chr1:22647625 [GRCh38]
Chr1:22974118 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.628A>G (p.Arg210Gly) single nucleotide variant not provided [RCV001958229] Chr1:22647673 [GRCh38]
Chr1:22974166 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.630G>A (p.Arg210=) single nucleotide variant not provided [RCV002129180] Chr1:22647675 [GRCh38]
Chr1:22974168 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.588G>A (p.Thr196=) single nucleotide variant not provided [RCV002190810] Chr1:22647633 [GRCh38]
Chr1:22974126 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.477C>A (p.Thr159=) single nucleotide variant not provided [RCV002207618] Chr1:22647522 [GRCh38]
Chr1:22974015 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.48G>A (p.Leu16=) single nucleotide variant not provided [RCV002084973] Chr1:22644071 [GRCh38]
Chr1:22970564 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.558C>T (p.Gly186=) single nucleotide variant not provided [RCV002189953] Chr1:22647603 [GRCh38]
Chr1:22974096 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.198C>T (p.Pro66=) single nucleotide variant not provided [RCV002129763] Chr1:22647243 [GRCh38]
Chr1:22973736 [GRCh37]
Chr1:1p36.12		 benign
NM_172369.5(C1QC):c.561C>T (p.Val187=) single nucleotide variant not provided [RCV002191043] Chr1:22647606 [GRCh38]
Chr1:22974099 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.706G>A (p.Val236Ile) single nucleotide variant C1Q deficiency [RCV002208773] Chr1:22647751 [GRCh38]
Chr1:22974244 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.333G>A (p.Glu111=) single nucleotide variant not provided [RCV002207668] Chr1:22647378 [GRCh38]
Chr1:22973871 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.429C>T (p.Val143=) single nucleotide variant not provided [RCV002209917] Chr1:22647474 [GRCh38]
Chr1:22973967 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.153C>T (p.Asp51=) single nucleotide variant not provided [RCV002190851] Chr1:22644176 [GRCh38]
Chr1:22970669 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.43C>T (p.Leu15=) single nucleotide variant not provided [RCV002129226] Chr1:22644066 [GRCh38]
Chr1:22970559 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.441G>A (p.Pro147=) single nucleotide variant not provided [RCV002116990] Chr1:22647486 [GRCh38]
Chr1:22973979 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.615C>A (p.Gly205=) single nucleotide variant not provided [RCV002113763] Chr1:22647660 [GRCh38]
Chr1:22974153 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.489C>T (p.Pro163=) single nucleotide variant not provided [RCV002215355] Chr1:22647534 [GRCh38]
Chr1:22974027 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.6C>T (p.Asp2=) single nucleotide variant not provided [RCV002172791] Chr1:22644029 [GRCh38]
Chr1:22970522 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.426G>A (p.Ala142=) single nucleotide variant C1QC-related disorder [RCV003923586]|not provided [RCV002116880] Chr1:22647471 [GRCh38]
Chr1:22973964 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.537C>T (p.Cys179=) single nucleotide variant not provided [RCV002150124] Chr1:22647582 [GRCh38]
Chr1:22974075 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.99C>T (p.Tyr33=) single nucleotide variant not provided [RCV002147684] Chr1:22644122 [GRCh38]
Chr1:22970615 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.516G>A (p.Ala172=) single nucleotide variant C1QC-related disorder [RCV003978512]|not provided [RCV002179405] Chr1:22647561 [GRCh38]
Chr1:22974054 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.582C>T (p.Gly194=) single nucleotide variant not provided [RCV002156958] Chr1:22647627 [GRCh38]
Chr1:22974120 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.90A>G (p.Thr30=) single nucleotide variant not provided [RCV002178677] Chr1:22644113 [GRCh38]
Chr1:22970606 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.516G>C (p.Ala172=) single nucleotide variant not provided [RCV002139832] Chr1:22647561 [GRCh38]
Chr1:22974054 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.234C>T (p.Pro78=) single nucleotide variant not provided [RCV002118422] Chr1:22647279 [GRCh38]
Chr1:22973772 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.342C>T (p.Tyr114=) single nucleotide variant not provided [RCV002183496] Chr1:22647387 [GRCh38]
Chr1:22973880 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.615C>T (p.Gly205=) single nucleotide variant not provided [RCV002200879] Chr1:22647660 [GRCh38]
Chr1:22974153 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.255G>C (p.Gly85=) single nucleotide variant not provided [RCV002203652] Chr1:22647300 [GRCh38]
Chr1:22973793 [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_172369.5(C1QC):c.366C>T (p.Phe122=) single nucleotide variant not provided [RCV002614272] Chr1:22647411 [GRCh38]
Chr1:22973904 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.637G>A (p.Val213Met) single nucleotide variant not provided [RCV002972221] Chr1:22647682 [GRCh38]
Chr1:22974175 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.321G>T (p.Glu107Asp) single nucleotide variant not provided [RCV002730664] Chr1:22647366 [GRCh38]
Chr1:22973859 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.42G>A (p.Lys14=) single nucleotide variant not provided [RCV002904910] Chr1:22644065 [GRCh38]
Chr1:22970558 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.384C>T (p.Thr128=) single nucleotide variant not provided [RCV002690222] Chr1:22647429 [GRCh38]
Chr1:22973922 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.458C>T (p.Thr153Met) single nucleotide variant Inborn genetic diseases [RCV002837141]|not provided [RCV003111697] Chr1:22647503 [GRCh38]
Chr1:22973996 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.572C>T (p.Thr191Ile) single nucleotide variant Inborn genetic diseases [RCV002865268] Chr1:22647617 [GRCh38]
Chr1:22974110 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.164G>A (p.Gly55Glu) single nucleotide variant not provided [RCV002996598] Chr1:22644187 [GRCh38]
Chr1:22970680 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.293T>G (p.Val98Gly) single nucleotide variant not provided [RCV002621608] Chr1:22647338 [GRCh38]
Chr1:22973831 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.288A>G (p.Pro96=) single nucleotide variant not provided [RCV002621607] Chr1:22647333 [GRCh38]
Chr1:22973826 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.513C>G (p.His171Gln) single nucleotide variant not provided [RCV002847465] Chr1:22647558 [GRCh38]
Chr1:22974051 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.56TGC[5] (p.Leu22_Pro23insLeu) microsatellite not provided [RCV002847418] Chr1:22644077..22644078 [GRCh38]
Chr1:22970570..22970571 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.683T>C (p.Val228Ala) single nucleotide variant Inborn genetic diseases [RCV003167653]|not provided [RCV002690976] Chr1:22647728 [GRCh38]
Chr1:22974221 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.312C>T (p.Ile104=) single nucleotide variant not provided [RCV002949642] Chr1:22647357 [GRCh38]
Chr1:22973850 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.336C>A (p.Gly112=) single nucleotide variant not provided [RCV002705491] Chr1:22647381 [GRCh38]
Chr1:22973874 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.642C>T (p.Gly214=) single nucleotide variant not provided [RCV003085260] Chr1:22647687 [GRCh38]
Chr1:22974180 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.215A>C (p.Lys72Thr) single nucleotide variant not provided [RCV002933314] Chr1:22647260 [GRCh38]
Chr1:22973753 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.507C>T (p.Val169=) single nucleotide variant not provided [RCV002644448] Chr1:22647552 [GRCh38]
Chr1:22974045 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.310A>G (p.Ile104Val) single nucleotide variant not provided [RCV003039776] Chr1:22647355 [GRCh38]
Chr1:22973848 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.412A>T (p.Ile138Phe) single nucleotide variant not provided [RCV002851285] Chr1:22647457 [GRCh38]
Chr1:22973950 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.726C>T (p.Leu242=) single nucleotide variant not provided [RCV002594833] Chr1:22647771 [GRCh38]
Chr1:22974264 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.169A>C (p.Lys57Gln) single nucleotide variant not provided [RCV002790468] Chr1:22644192 [GRCh38]
Chr1:22970685 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.459G>A (p.Thr153=) single nucleotide variant not provided [RCV002917930] Chr1:22647504 [GRCh38]
Chr1:22973997 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.60G>C (p.Leu20=) single nucleotide variant not provided [RCV003029014] Chr1:22644083 [GRCh38]
Chr1:22970576 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.391C>G (p.Pro131Ala) single nucleotide variant Inborn genetic diseases [RCV002649218] Chr1:22647436 [GRCh38]
Chr1:22973929 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.550C>T (p.Arg184Cys) single nucleotide variant not provided [RCV002600595] Chr1:22647595 [GRCh38]
Chr1:22974088 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.14C>G (p.Pro5Arg) single nucleotide variant not provided [RCV002650359] Chr1:22644037 [GRCh38]
Chr1:22970530 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.157C>T (p.Leu53=) single nucleotide variant not provided [RCV002857716] Chr1:22644180 [GRCh38]
Chr1:22970673 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.645G>T (p.Glu215Asp) single nucleotide variant not provided [RCV002899674] Chr1:22647690 [GRCh38]
Chr1:22974183 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.438C>A (p.Asn146Lys) single nucleotide variant Inborn genetic diseases [RCV002832190] Chr1:22647483 [GRCh38]
Chr1:22973976 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.147G>T (p.Gly49=) single nucleotide variant not provided [RCV002602051] Chr1:22644170 [GRCh38]
Chr1:22970663 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.392C>G (p.Pro131Arg) single nucleotide variant not provided [RCV002645962] Chr1:22647437 [GRCh38]
Chr1:22973930 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.424G>A (p.Ala142Thr) single nucleotide variant Inborn genetic diseases [RCV004070792]|not provided [RCV002651358] Chr1:22647469 [GRCh38]
Chr1:22973962 [GRCh37]
Chr1:1p36.12		 likely benign|uncertain significance
NM_172369.5(C1QC):c.552C>T (p.Arg184=) single nucleotide variant not provided [RCV002811127] Chr1:22647597 [GRCh38]
Chr1:22974090 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.23T>C (p.Leu8Pro) single nucleotide variant not provided [RCV002584638] Chr1:22644046 [GRCh38]
Chr1:22970539 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs) indel C1Q deficiency [RCV003228163] Chr1:22644042 [GRCh38]
Chr1:22970535 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del) microsatellite C1Q deficiency [RCV003340837] Chr1:22647688..22647690 [GRCh38]
Chr1:22974181..22974183 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.545T>C (p.Leu182Pro) single nucleotide variant Inborn genetic diseases [RCV003355229] Chr1:22647590 [GRCh38]
Chr1:22974083 [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
NM_172369.5(C1QC):c.369G>A (p.Thr123=) single nucleotide variant not provided [RCV003880189] Chr1:22647414 [GRCh38]
Chr1:22973907 [GRCh37]
Chr1:1p36.12		 likely benign
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_172369.5(C1QC):c.548A>G (p.Tyr183Cys) single nucleotide variant not provided [RCV003412892] Chr1:22647593 [GRCh38]
Chr1:22974086 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.423C>T (p.Asn141=) single nucleotide variant not provided [RCV003831456] Chr1:22647468 [GRCh38]
Chr1:22973961 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.249T>C (p.His83=) single nucleotide variant not provided [RCV003686712] Chr1:22647294 [GRCh38]
Chr1:22973787 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.273A>G (p.Gly91=) single nucleotide variant not provided [RCV003695082] Chr1:22647318 [GRCh38]
Chr1:22973811 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.225G>A (p.Lys75=) single nucleotide variant not provided [RCV003659437] Chr1:22647270 [GRCh38]
Chr1:22973763 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.582C>A (p.Gly194=) single nucleotide variant not provided [RCV003579728] Chr1:22647627 [GRCh38]
Chr1:22974120 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.181+20T>C single nucleotide variant not provided [RCV003549284] Chr1:22644224 [GRCh38]
Chr1:22970717 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.711C>T (p.Phe237=) single nucleotide variant not provided [RCV003702606] Chr1:22647756 [GRCh38]
Chr1:22974249 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.4G>T (p.Asp2Tyr) single nucleotide variant not provided [RCV003814293] Chr1:22644027 [GRCh38]
Chr1:22970520 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.555C>T (p.Ser185=) single nucleotide variant not provided [RCV003725421] Chr1:22647600 [GRCh38]
Chr1:22974093 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.30C>T (p.His10=) single nucleotide variant not provided [RCV003667018] Chr1:22644053 [GRCh38]
Chr1:22970546 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.690C>T (p.Ile230=) single nucleotide variant not provided [RCV003717043] Chr1:22647735 [GRCh38]
Chr1:22974228 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.612G>A (p.Ser204=) single nucleotide variant not provided [RCV003729479] Chr1:22647657 [GRCh38]
Chr1:22974150 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.181+17G>A single nucleotide variant not provided [RCV003847372] Chr1:22644221 [GRCh38]
Chr1:22970714 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.252T>C (p.Pro84=) single nucleotide variant not provided [RCV003871663] Chr1:22647297 [GRCh38]
Chr1:22973790 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.714C>T (p.Ser238=) single nucleotide variant not provided [RCV003872070] Chr1:22647759 [GRCh38]
Chr1:22974252 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.528C>A (p.Ala176=) single nucleotide variant not provided [RCV003554422] Chr1:22647573 [GRCh38]
Chr1:22974066 [GRCh37]
Chr1:1p36.12		 likely benign
NM_172369.5(C1QC):c.364T>C (p.Phe122Leu) single nucleotide variant not provided [RCV003704367] Chr1:22647409 [GRCh38]
Chr1:22973902 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.587C>G (p.Thr196Arg) single nucleotide variant Inborn genetic diseases [RCV004429513] Chr1:22647632 [GRCh38]
Chr1:22974125 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.604G>C (p.Val202Leu) single nucleotide variant Inborn genetic diseases [RCV004429514] Chr1:22647649 [GRCh38]
Chr1:22974142 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_172369.5(C1QC):c.476C>A (p.Thr159Asn) single nucleotide variant Inborn genetic diseases [RCV004429512] Chr1:22647521 [GRCh38]
Chr1:22974014 [GRCh37]
Chr1:1p36.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1054
Count of miRNA genes:439
Interacting mature miRNAs:478
Transcripts:ENST00000374637, ENST00000374639, ENST00000374640
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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
407199553GWAS848529_Hblood protein measurement QTL GWAS848529 (human)3e-48blood protein measurementblood protein measurement (CMO:0000028)12264414922644150Human
406960343GWAS609319_Hcomplement C1q subcomponent subunit C measurement QTL GWAS609319 (human)3e-81complement C1q subcomponent subunit C measurement12264441522644416Human
407199554GWAS848530_Hblood protein measurement QTL GWAS848530 (human)9e-52blood protein measurementblood protein measurement (CMO:0000028)12264441522644416Human
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
406891869GWAS540845_Hcomplement C1q subcomponent subunit C measurement QTL GWAS540845 (human)3e-29complement C1q subcomponent subunit C measurement12264441522644416Human

Markers in Region
RH12869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,974,327 - 22,974,500UniSTSGRCh37
Build 36122,846,914 - 22,847,087RGDNCBI36
Celera121,299,042 - 21,299,215RGD
Cytogenetic Map1p36.11UniSTS
HuRef121,218,685 - 21,218,841UniSTS
GeneMap99-GB4 RH Map181.29UniSTS
SHGC-74373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,973,977 - 22,974,111UniSTSGRCh37
Build 36122,846,564 - 22,846,698RGDNCBI36
Celera121,298,692 - 21,298,826RGD
Cytogenetic Map1p36.11UniSTS
HuRef121,218,335 - 21,218,469UniSTS
TNG Radiation Hybrid Map19011.0UniSTS
GeneMap99-GB4 RH Map181.09UniSTS
NCBI RH Map1135.3UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF087892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL568589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG060138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI824793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB995661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN480852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA849505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000374637   ⟹   ENSP00000363768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,653 - 22,647,887 (+)Ensembl
Ensembl Acc Id: ENST00000374639   ⟹   ENSP00000363770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,633 - 22,648,110 (+)Ensembl
Ensembl Acc Id: ENST00000374640   ⟹   ENSP00000363771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,633 - 22,648,108 (+)Ensembl
Ensembl Acc Id: ENST00000695749   ⟹   ENSP00000512142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,014 - 22,648,110 (+)Ensembl
Ensembl Acc Id: ENST00000695750   ⟹   ENSP00000512143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,626 - 22,648,110 (+)Ensembl
Ensembl Acc Id: ENST00000695751   ⟹   ENSP00000512144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,626 - 22,648,110 (+)Ensembl
Ensembl Acc Id: ENST00000695752   ⟹   ENSP00000512145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,626 - 22,648,110 (+)Ensembl
Ensembl Acc Id: ENST00000695753   ⟹   ENSP00000512146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,643,632 - 22,648,110 (+)Ensembl
RefSeq Acc Id: NM_001114101   ⟹   NP_001107573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,643,633 - 22,648,108 (+)NCBI
GRCh37122,969,969 - 22,974,603 (+)NCBI
HuRef121,214,476 - 21,218,943 (+)ENTREZGENE
CHM1_1123,082,633 - 23,087,117 (+)NCBI
T2T-CHM13v2.0122,468,666 - 22,473,122 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347619   ⟹   NP_001334548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,643,633 - 22,648,108 (+)NCBI
T2T-CHM13v2.0122,468,666 - 22,473,122 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347620   ⟹   NP_001334549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,643,633 - 22,648,108 (+)NCBI
T2T-CHM13v2.0122,468,666 - 22,473,122 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172369   ⟹   NP_758957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,643,633 - 22,648,108 (+)NCBI
GRCh37122,969,969 - 22,974,603 (+)NCBI
Build 36122,842,734 - 22,847,190 (+)NCBI Archive
HuRef121,214,476 - 21,218,943 (+)ENTREZGENE
CHM1_1123,082,633 - 23,087,117 (+)NCBI
T2T-CHM13v2.0122,468,666 - 22,473,122 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001107573   ⟸   NM_001114101
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96DL2 (UniProtKB/Swiss-Prot),   Q7Z502 (UniProtKB/Swiss-Prot),   Q96H05 (UniProtKB/Swiss-Prot),   P02747 (UniProtKB/Swiss-Prot),   A0A024RAA7 (UniProtKB/TrEMBL),   A0A024RAB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_758957   ⟸   NM_172369
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96DL2 (UniProtKB/Swiss-Prot),   Q7Z502 (UniProtKB/Swiss-Prot),   Q96H05 (UniProtKB/Swiss-Prot),   P02747 (UniProtKB/Swiss-Prot),   A0A024RAA7 (UniProtKB/TrEMBL),   A0A024RAB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334548   ⟸   NM_001347619
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96DL2 (UniProtKB/Swiss-Prot),   Q7Z502 (UniProtKB/Swiss-Prot),   Q96H05 (UniProtKB/Swiss-Prot),   P02747 (UniProtKB/Swiss-Prot),   A0A024RAA7 (UniProtKB/TrEMBL),   A0A024RAB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334549   ⟸   NM_001347620
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SIZ0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000363770   ⟸   ENST00000374639
Ensembl Acc Id: ENSP00000363768   ⟸   ENST00000374637
Ensembl Acc Id: ENSP00000363771   ⟸   ENST00000374640
Ensembl Acc Id: ENSP00000512144   ⟸   ENST00000695751
Ensembl Acc Id: ENSP00000512143   ⟸   ENST00000695750
Ensembl Acc Id: ENSP00000512145   ⟸   ENST00000695752
Ensembl Acc Id: ENSP00000512146   ⟸   ENST00000695753
Ensembl Acc Id: ENSP00000512142   ⟸   ENST00000695749
Protein Domains
C1q   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02747-F1-model_v2 AlphaFold P02747 1-245 view protein structure

Promoters
RGD ID:6854444
Promoter ID:EPDNEW_H387
Type:initiation region
Name:C1QC_1
Description:complement C1q C 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
GRCh38122,643,633 - 22,643,693EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1245 AgrOrtholog
COSMIC C1QC COSMIC
Ensembl Genes ENSG00000159189 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374637 ENTREZGENE
  ENST00000374637.1 UniProtKB/Swiss-Prot
  ENST00000374639 ENTREZGENE
  ENST00000374639.7 UniProtKB/Swiss-Prot
  ENST00000374640 ENTREZGENE
  ENST00000374640.9 UniProtKB/Swiss-Prot
  ENST00000695749 ENTREZGENE
  ENST00000695749.1 UniProtKB/TrEMBL
  ENST00000695750.1 UniProtKB/TrEMBL
  ENST00000695751.1 UniProtKB/Swiss-Prot
  ENST00000695752.1 UniProtKB/TrEMBL
  ENST00000695753.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6-Phosphogluconate Dehydrogenase, domain 3 UniProtKB/TrEMBL
GTEx ENSG00000159189 GTEx
HGNC ID HGNC:1245 ENTREZGENE
Human Proteome Map C1QC 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:714 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 714 ENTREZGENE
OMIM 120575 OMIM
PANTHER COMPLEMENT C1Q SUBCOMPONENT SUBUNIT C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25626 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 A0A024RAA7 ENTREZGENE, UniProtKB/TrEMBL
  A0A024RAB3 ENTREZGENE
  A0A8Q3SIZ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKR2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKR6_HUMAN UniProtKB/TrEMBL
  C1QC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z502 ENTREZGENE
  Q96DL2 ENTREZGENE
  Q96H05 ENTREZGENE
UniProt Secondary A0A024RAB3 UniProtKB/TrEMBL
  Q7Z502 UniProtKB/Swiss-Prot
  Q96DL2 UniProtKB/Swiss-Prot
  Q96H05 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 C1QC  complement C1q C chain  C1QC  complement component 1, q subcomponent, C chain  Symbol and/or name change 5135510 APPROVED