CEP19 (centrosomal protein 19) - Rat Genome Database

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Gene: CEP19 (centrosomal protein 19) Homo sapiens
Analyze
Symbol: CEP19
Name: centrosomal protein 19
RGD ID: 1602846
HGNC Page HGNC:28209
Description: Involved in microtubule anchoring at centrosome and vesicle targeting, trans-Golgi to periciliary membrane compartment. Located in microtubule cytoskeleton and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C3orf34; centrosomal protein 19kDa; centrosomal protein of 19 kDa; hypothetical protein LOC84984; MGC14126; MOSPGF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CEP19P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,706,277 - 196,712,250 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,706,277 - 196,712,250 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,433,148 - 196,439,121 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,918,298 - 197,923,491 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map3q29NCBI
HuRef3193,729,843 - 193,735,809 (-)NCBIHuRef
CHM1_13196,404,344 - 196,410,314 (-)NCBICHM1_1
T2T-CHM13v2.03199,425,670 - 199,431,642 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centriole  (IBA,IDA,IEA)
centrosome  (IBA,IDA)
ciliary basal body  (IBA,IDA)
cilium  (IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
nucleoplasm  (IDA)
spindle pole  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the sense of smell  (IAGP)
Aganglionic megacolon  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the vagina  (IAGP)
Asthma  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Blindness  (IAGP)
Brachydactyly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Childhood-onset truncal obesity  (IAGP)
Chronic kidney disease  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congestive heart failure  (IAGP)
Cryptorchidism  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Emotional lability  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Generalized hirsutism  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydrometrocolpos  (IAGP)
Hydronephrosis  (IAGP)
Hypercholesterolemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypothyroidism  (IAGP)
Impaired fasting glucose  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Infertility  (IAGP)
Inflammation of the large intestine  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Irregular menstruation  (IAGP)
Joint hypermobility  (IAGP)
Long philtrum  (IAGP)
Macrotia  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Microdontia  (IAGP)
Multiple renal cysts  (IAGP)
Myocardial infarction  (IAGP)
Nasal dysarthria  (IAGP)
Nephrotic syndrome  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oligozoospermia  (IAGP)
Otitis media  (IAGP)
Photophobia  (IAGP)
Polycystic ovaries  (IAGP)
Postaxial polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature coronary artery atherosclerosis  (IAGP)
Prominent nasal bridge  (IAGP)
Reduced visual acuity  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Rhinitis  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Type II diabetes mellitus  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:17207965   PMID:21399614   PMID:21873635   PMID:21988832   PMID:24268657   PMID:25416956   PMID:25814554   PMID:26186194  
PMID:26638075   PMID:28428259   PMID:28514442   PMID:28625565   PMID:28659385   PMID:29127258   PMID:30021884   PMID:32296183   PMID:32393512   PMID:33961781  


Genomics

Comparative Map Data
CEP19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,706,277 - 196,712,250 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,706,277 - 196,712,250 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,433,148 - 196,439,121 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,918,298 - 197,923,491 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map3q29NCBI
HuRef3193,729,843 - 193,735,809 (-)NCBIHuRef
CHM1_13196,404,344 - 196,410,314 (-)NCBICHM1_1
T2T-CHM13v2.03199,425,670 - 199,431,642 (-)NCBIT2T-CHM13v2.0
Cep19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391631,918,618 - 31,926,875 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1631,918,618 - 31,926,887 (+)EnsemblGRCm39 Ensembl
GRCm381632,099,789 - 32,108,068 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1632,099,800 - 32,108,069 (+)EnsemblGRCm38mm10GRCm38
MGSCv371632,099,888 - 32,108,140 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361632,019,549 - 32,027,801 (+)NCBIMGSCv36mm8
Celera1632,595,894 - 32,605,144 (+)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1622.4NCBI
Cep19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81182,182,868 - 82,192,134 (-)NCBIGRCr8
mRatBN7.21168,677,869 - 68,687,117 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1168,677,871 - 68,687,022 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1177,514,918 - 77,524,098 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01170,177,010 - 70,186,133 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01169,204,015 - 69,213,195 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01171,921,713 - 71,938,335 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1171,921,716 - 71,938,165 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01175,004,786 - 75,013,404 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,500,062 - 70,508,772 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11170,557,650 - 70,566,361 (-)NCBI
Celera1168,100,332 - 68,109,479 (-)NCBICelera
Cytogenetic Map11q22NCBI
Cep19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542012,823,889 - 12,825,337 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542012,823,663 - 12,829,598 (-)NCBIChiLan1.0ChiLan1.0
CEP19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22194,576,245 - 194,582,255 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13194,580,964 - 194,586,972 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03194,050,519 - 194,056,524 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13203,990,477 - 203,996,486 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3203,988,092 - 203,996,486 (-)Ensemblpanpan1.1panPan2
CEP19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,733,860 - 29,740,836 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3329,735,351 - 29,741,128 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3329,757,517 - 29,764,533 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03329,977,353 - 29,984,376 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13329,754,593 - 29,761,609 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03329,809,508 - 29,816,537 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03330,432,110 - 30,439,130 (-)NCBIUU_Cfam_GSD_1.0
Cep19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602124,595,931 - 124,601,054 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367841,283,886 - 1,289,965 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367841,284,215 - 1,289,362 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13133,420,032 - 133,428,390 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113133,420,017 - 133,428,394 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213143,068,624 - 143,074,817 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP19
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11590,514,147 - 90,519,580 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1590,514,438 - 90,521,380 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604164,298,556 - 64,305,151 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473061,783,903 - 61,790,001 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473061,783,665 - 61,789,980 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP19
97 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter) single nucleotide variant Obesity due to CEP19 deficiency [RCV000106311]|not provided [RCV001208623] Chr3:196707811 [GRCh38]
Chr3:196434682 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196280954-197590232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126] Chr3:196280954..197590232 [GRCh38]
Chr3:196007825..197317103 [GRCh37]
Chr3:197492222..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
NM_032898.5(CEP19):c.98T>C (p.Ile33Thr) single nucleotide variant not provided [RCV001367848] Chr3:196708560 [GRCh38]
Chr3:196435431 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196536193-196741662)x3 copy number gain See cases [RCV000133795] Chr3:196536193..196741662 [GRCh38]
Chr3:196263064..196468533 [GRCh37]
Chr3:197747461..197952930 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196418334-198125115)x3 copy number gain See cases [RCV000141811] Chr3:196418334..198125115 [GRCh38]
Chr3:196145205..197851986 [GRCh37]
Chr3:197629602..199336383 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196281672-197681798)x3 copy number gain See cases [RCV000239963] Chr3:196281672..197681798 [GRCh37]
Chr3:3q29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss Chromosome 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) duplication Bardet-Biedl syndrome [RCV000585772] Chr3:196707860..196707861 [GRCh38]
Chr3:196434731..196434732 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.168G>A (p.Pro56=) single nucleotide variant not provided [RCV000971739] Chr3:196707875 [GRCh38]
Chr3:196434746 [GRCh37]
Chr3:3q29		 benign
NM_032898.5(CEP19):c.97A>G (p.Ile33Val) single nucleotide variant not provided [RCV001043937]|not specified [RCV004031334] Chr3:196708561 [GRCh38]
Chr3:196435432 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.33G>A (p.Arg11=) single nucleotide variant not provided [RCV000918504] Chr3:196708625 [GRCh38]
Chr3:196435496 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:196403636-196481445)x3 copy number gain not provided [RCV000847926] Chr3:196403636..196481445 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.172C>T (p.His58Tyr) single nucleotide variant not provided [RCV001222807] Chr3:196707871 [GRCh38]
Chr3:196434742 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.169C>T (p.Arg57Ter) single nucleotide variant not provided [RCV001202585] Chr3:196707874 [GRCh38]
Chr3:196434745 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.-11T>C single nucleotide variant Obesity due to CEP19 deficiency [RCV001731984]|not provided [RCV000939456] Chr3:196708668 [GRCh38]
Chr3:196435539 [GRCh37]
Chr3:3q29		 benign
NM_032898.5(CEP19):c.471A>G (p.Thr157=) single nucleotide variant not provided [RCV000892637] Chr3:196707572 [GRCh38]
Chr3:196434443 [GRCh37]
Chr3:3q29		 benign|likely benign
NM_032898.5(CEP19):c.271G>C (p.Glu91Gln) single nucleotide variant CEP19-related disorder [RCV003970617]|not provided [RCV000939454] Chr3:196707772 [GRCh38]
Chr3:196434643 [GRCh37]
Chr3:3q29		 benign
NM_032898.5(CEP19):c.219A>G (p.Leu73=) single nucleotide variant not provided [RCV000939455] Chr3:196707824 [GRCh38]
Chr3:196434695 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:196244688-196535851)x3 copy number gain not provided [RCV001005503] Chr3:196244688..196535851 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.474G>T (p.Glu158Asp) single nucleotide variant not provided [RCV001069696] Chr3:196707569 [GRCh38]
Chr3:196434440 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.95G>A (p.Arg32His) single nucleotide variant not provided [RCV001041317] Chr3:196708563 [GRCh38]
Chr3:196435434 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.178_179del (p.Ser60fs) microsatellite not provided [RCV001212627] Chr3:196707864..196707865 [GRCh38]
Chr3:196434735..196434736 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.330C>G (p.Asp110Glu) single nucleotide variant not provided [RCV001043594] Chr3:196707713 [GRCh38]
Chr3:196434584 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196381502-196771786)x3 copy number gain not provided [RCV001249434] Chr3:196381502..196771786 [GRCh37]
Chr3:3q29		 not provided
NM_032898.5(CEP19):c.94C>T (p.Arg32Cys) single nucleotide variant not provided [RCV001235311] Chr3:196708564 [GRCh38]
Chr3:196435435 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.121A>G (p.Lys41Glu) single nucleotide variant not provided [RCV001039969] Chr3:196708537 [GRCh38]
Chr3:196435408 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_032898.5(CEP19):c.284G>C (p.Arg95Pro) single nucleotide variant not provided [RCV001349916] Chr3:196707759 [GRCh38]
Chr3:196434630 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.109C>T (p.Arg37Ter) single nucleotide variant not provided [RCV001338693] Chr3:196708549 [GRCh38]
Chr3:196435420 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Atypical behavior [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.93G>C (p.Gln31His) single nucleotide variant not provided [RCV001309154] Chr3:196708565 [GRCh38]
Chr3:196435436 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.112A>G (p.Asn38Asp) single nucleotide variant not provided [RCV001324547] Chr3:196708546 [GRCh38]
Chr3:196435417 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.303T>C (p.Pro101=) single nucleotide variant not provided [RCV001396450] Chr3:196707740 [GRCh38]
Chr3:196434611 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.223A>G (p.Ser75Gly) single nucleotide variant not provided [RCV001361023]|not specified [RCV004611784] Chr3:196707820 [GRCh38]
Chr3:196434691 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.295A>G (p.Ile99Val) single nucleotide variant not provided [RCV001338591] Chr3:196707748 [GRCh38]
Chr3:196434619 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.130+3A>T single nucleotide variant not provided [RCV001316652] Chr3:196708525 [GRCh38]
Chr3:196435396 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.88C>G (p.Arg30Gly) single nucleotide variant not provided [RCV001342376] Chr3:196708570 [GRCh38]
Chr3:196435441 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.148G>A (p.Glu50Lys) single nucleotide variant not provided [RCV001361250] Chr3:196707895 [GRCh38]
Chr3:196434766 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.466G>A (p.Asp156Asn) single nucleotide variant not provided [RCV001323227] Chr3:196707577 [GRCh38]
Chr3:196434448 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.170G>A (p.Arg57Gln) single nucleotide variant not provided [RCV001372605] Chr3:196707873 [GRCh38]
Chr3:196434744 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_195754030)_(196438852_?)dup duplication not provided [RCV001314246] Chr3:195754030..196438852 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.242T>C (p.Leu81Ser) single nucleotide variant not provided [RCV001314355] Chr3:196707801 [GRCh38]
Chr3:196434672 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.332A>G (p.Lys111Arg) single nucleotide variant not provided [RCV001367411] Chr3:196707711 [GRCh38]
Chr3:196434582 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195693872-197376871)x3 copy number gain See cases [RCV001526486] Chr3:195693872..197376871 [GRCh37]
Chr3:3q29		 risk factor
NM_032898.5(CEP19):c.276A>G (p.Gln92=) single nucleotide variant not provided [RCV001475735] Chr3:196707767 [GRCh38]
Chr3:196434638 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.131-10T>C single nucleotide variant not provided [RCV001429826] Chr3:196707922 [GRCh38]
Chr3:196434793 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.315G>C (p.Leu105=) single nucleotide variant not provided [RCV001410181] Chr3:196707728 [GRCh38]
Chr3:196434599 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.131-6T>C single nucleotide variant not provided [RCV001448138] Chr3:196707918 [GRCh38]
Chr3:196434789 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.174C>T (p.His58=) single nucleotide variant not provided [RCV001495635] Chr3:196707869 [GRCh38]
Chr3:196434740 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.96C>T (p.Arg32=) single nucleotide variant not provided [RCV001469031] Chr3:196708562 [GRCh38]
Chr3:196435433 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.81G>A (p.Gly27=) single nucleotide variant not provided [RCV001480717] Chr3:196708577 [GRCh38]
Chr3:196435448 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.393G>A (p.Lys131=) single nucleotide variant not provided [RCV001401340] Chr3:196707650 [GRCh38]
Chr3:196434521 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.131-13T>A single nucleotide variant not provided [RCV001471386] Chr3:196707925 [GRCh38]
Chr3:196434796 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.-6A>G single nucleotide variant not provided [RCV001515391] Chr3:196708663 [GRCh38]
Chr3:196435534 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:194790394-197961930)x3 copy number gain Chromosome 3q29 microdeletion syndrome [RCV001801188] Chr3:194790394..197961930 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.296T>C (p.Ile99Thr) single nucleotide variant not provided [RCV002008273] Chr3:196707747 [GRCh38]
Chr3:196434618 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.290C>G (p.Thr97Arg) single nucleotide variant not provided [RCV001950253] Chr3:196707753 [GRCh38]
Chr3:196434624 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.385AAG[2] (p.Lys131del) microsatellite not provided [RCV001914083] Chr3:196707650..196707652 [GRCh38]
Chr3:196434521..196434523 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.152_153del (p.Gln51fs) deletion not provided [RCV002008064] Chr3:196707890..196707891 [GRCh38]
Chr3:196434761..196434762 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.442_456del (p.Asp148_Ser152del) deletion not provided [RCV002045060] Chr3:196707587..196707601 [GRCh38]
Chr3:196434458..196434472 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.159G>T (p.Lys53Asn) single nucleotide variant not provided [RCV001985679] Chr3:196707884 [GRCh38]
Chr3:196434755 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.151C>G (p.Gln51Glu) single nucleotide variant not provided [RCV002005104] Chr3:196707892 [GRCh38]
Chr3:196434763 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.362A>G (p.Asp121Gly) single nucleotide variant not provided [RCV001965394] Chr3:196707681 [GRCh38]
Chr3:196434552 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.413A>G (p.Tyr138Cys) single nucleotide variant not provided [RCV001947110] Chr3:196707630 [GRCh38]
Chr3:196434501 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.113A>C (p.Asn38Thr) single nucleotide variant not provided [RCV002003638] Chr3:196708545 [GRCh38]
Chr3:196435416 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195914129-196804639)x1 copy number loss not provided [RCV001827937] Chr3:195914129..196804639 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.465G>A (p.Trp155Ter) single nucleotide variant not provided [RCV002044139] Chr3:196707578 [GRCh38]
Chr3:196434449 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196269417-196481401)x3 copy number gain not provided [RCV001833055] Chr3:196269417..196481401 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195993691-197851986)x3 copy number gain not provided [RCV001827845] Chr3:195993691..197851986 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.275A>C (p.Gln92Pro) single nucleotide variant not provided [RCV002004732] Chr3:196707768 [GRCh38]
Chr3:196434639 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.246G>A (p.Ser82=) single nucleotide variant not provided [RCV002038463] Chr3:196707797 [GRCh38]
Chr3:196434668 [GRCh37]
Chr3:3q29		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032898.5(CEP19):c.400C>T (p.Pro134Ser) single nucleotide variant not provided [RCV001941216] Chr3:196707643 [GRCh38]
Chr3:196434514 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.161A>G (p.Asn54Ser) single nucleotide variant not provided [RCV001953098] Chr3:196707882 [GRCh38]
Chr3:196434753 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.53T>C (p.Ile18Thr) single nucleotide variant not provided [RCV001931290] Chr3:196708605 [GRCh38]
Chr3:196435476 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.374A>G (p.Glu125Gly) single nucleotide variant not provided [RCV001885887] Chr3:196707669 [GRCh38]
Chr3:196434540 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.359T>A (p.Met120Lys) single nucleotide variant not provided [RCV001994396] Chr3:196707684 [GRCh38]
Chr3:196434555 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.211G>A (p.Glu71Lys) single nucleotide variant not provided [RCV001962306] Chr3:196707832 [GRCh38]
Chr3:196434703 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.13G>T (p.Ala5Ser) single nucleotide variant not provided [RCV001996674] Chr3:196708645 [GRCh38]
Chr3:196435516 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.425T>G (p.Val142Gly) single nucleotide variant not provided [RCV001961250] Chr3:196707618 [GRCh38]
Chr3:196434489 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.427G>A (p.Glu143Lys) single nucleotide variant not provided [RCV001902489] Chr3:196707616 [GRCh38]
Chr3:196434487 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.10A>G (p.Thr4Ala) single nucleotide variant not provided [RCV002047619] Chr3:196708648 [GRCh38]
Chr3:196435519 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.91C>A (p.Gln31Lys) single nucleotide variant not provided [RCV001878735] Chr3:196708567 [GRCh38]
Chr3:196435438 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.5T>C (p.Met2Thr) single nucleotide variant not provided [RCV001976486] Chr3:196708653 [GRCh38]
Chr3:196435524 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.283C>T (p.Arg95Trp) single nucleotide variant Obesity due to CEP19 deficiency [RCV003228013]|not provided [RCV001902725] Chr3:196707760 [GRCh38]
Chr3:196434631 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.79G>A (p.Gly27Arg) single nucleotide variant not provided [RCV002019513] Chr3:196708579 [GRCh38]
Chr3:196435450 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.167C>T (p.Pro56Leu) single nucleotide variant not provided [RCV001905513] Chr3:196707876 [GRCh38]
Chr3:196434747 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.245C>T (p.Ser82Leu) single nucleotide variant not provided [RCV001923622]|not specified [RCV004611999] Chr3:196707798 [GRCh38]
Chr3:196434669 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.170dup (p.His58fs) duplication not provided [RCV001977354] Chr3:196707872..196707873 [GRCh38]
Chr3:196434743..196434744 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.248G>A (p.Gly83Glu) single nucleotide variant not provided [RCV001992899] Chr3:196707795 [GRCh38]
Chr3:196434666 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.419T>C (p.Ile140Thr) single nucleotide variant not provided [RCV001957237] Chr3:196707624 [GRCh38]
Chr3:196434495 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.42T>C (p.Pro14=) single nucleotide variant not provided [RCV002114415] Chr3:196708616 [GRCh38]
Chr3:196435487 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.222C>T (p.Phe74=) single nucleotide variant not provided [RCV002184989] Chr3:196707821 [GRCh38]
Chr3:196434692 [GRCh37]
Chr3:3q29		 likely benign
NC_000003.11:g.(?_196434422)_(196434803_?)dup duplication not provided [RCV003122917] Chr3:196434422..196434803 [GRCh37]
Chr3:3q29		 uncertain significance
Single allele deletion Chromosome 3q29 microdeletion syndrome [RCV002247703] Chr3:195833012..197340883 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197386180) copy number loss Chromosome 3q29 microdeletion syndrome [RCV002280743] Chr3:195703615..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195690228-197356334)x1 copy number loss not provided [RCV002474511] Chr3:195690228..197356334 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.193G>A (p.Val65Ile) single nucleotide variant not provided [RCV002295404] Chr3:196707850 [GRCh38]
Chr3:196434721 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.137C>G (p.Thr46Ser) single nucleotide variant not provided [RCV002730814] Chr3:196707906 [GRCh38]
Chr3:196434777 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.461G>C (p.Gly154Ala) single nucleotide variant not provided [RCV002815668] Chr3:196707582 [GRCh38]
Chr3:196434453 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.346A>G (p.Arg116Gly) single nucleotide variant not specified [RCV004102278] Chr3:196707697 [GRCh38]
Chr3:196434568 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.42T>A (p.Pro14=) single nucleotide variant not provided [RCV002615597] Chr3:196708616 [GRCh38]
Chr3:196435487 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.490T>G (p.Ter164Gly) single nucleotide variant not provided [RCV002842820] Chr3:196707553 [GRCh38]
Chr3:196434424 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195790857-196543483)x1 copy number loss not provided [RCV002475616] Chr3:195790857..196543483 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.441C>T (p.Asp147=) single nucleotide variant not provided [RCV002740169] Chr3:196707602 [GRCh38]
Chr3:196434473 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.11C>G (p.Thr4Ser) single nucleotide variant not provided [RCV003021894] Chr3:196708647 [GRCh38]
Chr3:196435518 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.118T>C (p.Ser40Pro) single nucleotide variant not provided [RCV002909857] Chr3:196708540 [GRCh38]
Chr3:196435411 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.40C>T (p.Pro14Ser) single nucleotide variant not specified [RCV004153633] Chr3:196708618 [GRCh38]
Chr3:196435489 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.131-8T>C single nucleotide variant not provided [RCV002824071] Chr3:196707920 [GRCh38]
Chr3:196434791 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.88C>T (p.Arg30Cys) single nucleotide variant not provided [RCV002639146] Chr3:196708570 [GRCh38]
Chr3:196435441 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.270G>A (p.Met90Ile) single nucleotide variant not provided [RCV002710667] Chr3:196707773 [GRCh38]
Chr3:196434644 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.139A>G (p.Arg47Gly) single nucleotide variant not provided [RCV002741047] Chr3:196707904 [GRCh38]
Chr3:196434775 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.461G>A (p.Gly154Asp) single nucleotide variant not provided [RCV003024542] Chr3:196707582 [GRCh38]
Chr3:196434453 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.20A>C (p.Lys7Thr) single nucleotide variant not provided [RCV003006322] Chr3:196708638 [GRCh38]
Chr3:196435509 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.291A>C (p.Thr97=) single nucleotide variant not provided [RCV003007363] Chr3:196707752 [GRCh38]
Chr3:196434623 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.130+15A>G single nucleotide variant not provided [RCV002676481] Chr3:196708513 [GRCh38]
Chr3:196435384 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.-13_-1del deletion not provided [RCV003063780] Chr3:196708658..196708670 [GRCh38]
Chr3:196435529..196435541 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.370T>C (p.Phe124Leu) single nucleotide variant not provided [RCV002577945] Chr3:196707673 [GRCh38]
Chr3:196434544 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003028258]|not specified [RCV004068573] Chr3:196708656 [GRCh38]
Chr3:196435527 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.284G>A (p.Arg95Gln) single nucleotide variant not provided [RCV002635863] Chr3:196707759 [GRCh38]
Chr3:196434630 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_195591052)_(197682644_?)dup duplication not provided [RCV003154915] Chr3:195591052..197682644 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195950438-197629463) copy number loss See cases [RCV003223585] Chr3:195950438..197629463 [GRCh38]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.268A>G (p.Met90Val) single nucleotide variant not specified [RCV004295133] Chr3:196707775 [GRCh38]
Chr3:196434646 [GRCh37]
Chr3:3q29		 uncertain significance
NM_032898.5(CEP19):c.318C>T (p.Asn106=) single nucleotide variant not provided [RCV003571890] Chr3:196707725 [GRCh38]
Chr3:196434596 [GRCh37]
Chr3:3q29		 likely benign
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:196190723-197605588)x3 copy number gain not provided [RCV003484163] Chr3:196190723..197605588 [GRCh37]
Chr3:3q29		 pathogenic
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_032898.5(CEP19):c.357C>A (p.Ile119=) single nucleotide variant not provided [RCV003694087] Chr3:196707686 [GRCh38]
Chr3:196434557 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.204G>A (p.Arg68=) single nucleotide variant not provided [RCV003703789] Chr3:196707839 [GRCh38]
Chr3:196434710 [GRCh37]
Chr3:3q29		 likely benign
NM_032898.5(CEP19):c.414T>C (p.Tyr138=) single nucleotide variant not provided [RCV003712272] Chr3:196707629 [GRCh38]
Chr3:196434500 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197340833)x1 copy number loss not provided [RCV004442775] Chr3:195739427..197340833 [GRCh37]
Chr3:3q29		 pathogenic
NM_032898.5(CEP19):c.361G>A (p.Asp121Asn) single nucleotide variant not specified [RCV004436092] Chr3:196707682 [GRCh38]
Chr3:196434553 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195106447-197846145)x3 copy number gain not provided [RCV004577475] Chr3:195106447..197846145 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.11:g.(?_196434422)_(196435540_?)dup duplication not provided [RCV004582340] Chr3:196434422..196435540 [GRCh37]
Chr3:3q29		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:650
Count of miRNA genes:388
Interacting mature miRNAs:410
Transcripts:ENST00000399942, ENST00000409690
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407160605GWAS809581_Htriacylglycerol 54:4 measurement QTL GWAS809581 (human)0.000005blood triglyceride amount (VT:0002644)3196711955196711956Human

Markers in Region
RH103138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,433,272 - 196,433,356UniSTSGRCh37
Build 363197,917,669 - 197,917,753RGDNCBI36
Cytogenetic Map3q29UniSTS
HuRef3193,729,967 - 193,730,051UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
D11S2977  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXp11.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2786 2252 4973 1726 2351 6 624 1951 465 2269 7303 6471 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000399942   ⟹   ENSP00000382823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,707,061 - 196,712,248 (-)Ensembl
Ensembl Acc Id: ENST00000409690   ⟹   ENSP00000387209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,706,277 - 196,712,250 (-)Ensembl
RefSeq Acc Id: NM_001379468   ⟹   NP_001366397
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,706,277 - 196,712,250 (-)NCBI
T2T-CHM13v2.03199,425,670 - 199,431,642 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379469   ⟹   NP_001366398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,706,277 - 196,712,250 (-)NCBI
T2T-CHM13v2.03199,425,670 - 199,431,642 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379470   ⟹   NP_001366399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,706,277 - 196,712,250 (-)NCBI
T2T-CHM13v2.03199,425,670 - 199,431,642 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032898   ⟹   NP_116287
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,706,277 - 196,712,250 (-)NCBI
GRCh373196,433,144 - 196,439,131 (-)NCBI
Build 363197,918,298 - 197,923,491 (-)NCBI Archive
HuRef3193,729,843 - 193,735,809 (-)RGD
CHM1_13196,404,344 - 196,410,356 (-)NCBI
T2T-CHM13v2.03199,425,670 - 199,431,642 (-)NCBI
Sequence:
RefSeq Acc Id: NP_116287   ⟸   NM_032898
- Peptide Label: isoform 1
- UniProtKB: Q96LK0 (UniProtKB/Swiss-Prot),   B2RA74 (UniProtKB/Swiss-Prot),   Q96I48 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001366399   ⟸   NM_001379470
- Peptide Label: isoform 1
- UniProtKB: Q96LK0 (UniProtKB/Swiss-Prot),   B2RA74 (UniProtKB/Swiss-Prot),   Q96I48 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366397   ⟸   NM_001379468
- Peptide Label: isoform 2
- UniProtKB: A8MX07 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366398   ⟸   NM_001379469
- Peptide Label: isoform 1
- UniProtKB: Q96LK0 (UniProtKB/Swiss-Prot),   B2RA74 (UniProtKB/Swiss-Prot),   Q96I48 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000382823   ⟸   ENST00000399942
Ensembl Acc Id: ENSP00000387209   ⟸   ENST00000409690

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96LK0-F1-model_v2 AlphaFold Q96LK0 1-163 view protein structure

Promoters
RGD ID:6866712
Promoter ID:EPDNEW_H6520
Type:initiation region
Name:CEP19_1
Description:centrosomal protein 19
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
GRCh383196,712,248 - 196,712,308EPDNEW
RGD ID:6801427
Promoter ID:HG_KWN:47497
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399942,   OTTHUMT00000333080,   OTTHUMT00000340678,   OTTHUMT00000340679,   OTTHUMT00000340680,   OTTHUMT00000340681,   OTTHUMT00000340682,   OTTHUMT00000340683,   OTTHUMT00000340684,   UC010IAJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,923,176 - 197,923,737 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28209 AgrOrtholog
COSMIC CEP19 COSMIC
Ensembl Genes ENSG00000174007 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399942 ENTREZGENE
  ENST00000399942.4 UniProtKB/TrEMBL
  ENST00000409690 ENTREZGENE
  ENST00000409690.5 UniProtKB/Swiss-Prot
GTEx ENSG00000174007 GTEx
HGNC ID HGNC:28209 ENTREZGENE
Human Proteome Map CEP19 Human Proteome Map
InterPro CEP19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84984 UniProtKB/Swiss-Prot
NCBI Gene 84984 ENTREZGENE
OMIM 615586 OMIM
PANTHER CENTROSOMAL PROTEIN OF 19 KDA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31539 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CEP19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672395 PharmGKB
UniProt A8MX07 ENTREZGENE, UniProtKB/TrEMBL
  B2RA74 ENTREZGENE
  CEP19_HUMAN UniProtKB/Swiss-Prot
  Q96I48 ENTREZGENE
  Q96LK0 ENTREZGENE
UniProt Secondary B2RA74 UniProtKB/Swiss-Prot
  Q96I48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP19  centrosomal protein 19    centrosomal protein 19kDa  Symbol and/or name change 5135510 APPROVED
2011-07-27 CEP19  centrosomal protein 19kDa  C3orf34  chromosome 3 open reading frame 34  Symbol and/or name change 5135510 APPROVED