COG1 (component of oligomeric golgi complex 1) - Rat Genome Database

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Gene: COG1 (component of oligomeric golgi complex 1) Homo sapiens
Analyze
Symbol: COG1
Name: component of oligomeric golgi complex 1
RGD ID: 1312123
HGNC Page HGNC:6545
Description: Involved in Golgi organization; glycosylation; and retrograde transport, vesicle recycling within Golgi. Located in Golgi apparatus. Part of Golgi transport complex. Implicated in congenital disorder of glycosylation type IIg.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDG2G; COG complex subunit 1; conserved oligomeric Golgi complex protein 1; conserved oligomeric Golgi complex subunit 1; DKFZp762L1710; KIAA1381; LDLB; low density lipoprotein receptor defect B complementing
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100421179  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381773,193,055 - 73,208,507 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1773,193,055 - 73,208,507 (+)EnsemblGRCh38hg38GRCh38
GRCh371771,189,194 - 71,204,646 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361768,700,768 - 68,716,241 (+)NCBINCBI36Build 36hg18NCBI36
Build 341768,700,777 - 68,716,238NCBI
Celera1767,772,261 - 67,787,792 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1766,598,252 - 66,613,673 (+)NCBIHuRef
CHM1_11771,253,231 - 71,268,706 (+)NCBICHM1_1
T2T-CHM13v2.01774,082,780 - 74,098,235 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal macular morphology  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Atrial septal dilatation  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brain atrophy  (IAGP)
Broad femoral neck  (IAGP)
Broad neck  (IAGP)
Butterfly vertebrae  (IAGP)
Camptodactyly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cholesteatoma  (IAGP)
Cleft palate  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Coxa valga  (IAGP)
Cryptorchidism  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Enlarged cisterna magna  (IAGP)
Esodeviation  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat acetabular roof  (IAGP)
Generalized hypotonia  (IAGP)
Giant platelets  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
Hemolytic-uremic syndrome  (IAGP)
Hepatosplenomegaly  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregularity of vertebral bodies  (IAGP)
Kyphoscoliosis  (IAGP)
Lateral ventricle dilatation  (IAGP)
Left ventricular hypertrophy  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mild global developmental delay  (IAGP)
Narrow mouth  (IAGP)
Nephrotic syndrome  (IAGP)
Osteopenia  (IAGP)
Pierre-Robin sequence  (IAGP)
Posterior rib gap  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Progressive microcephaly  (IAGP)
Proptosis  (IAGP)
Prostate cancer  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent infections  (IAGP)
Renal insufficiency  (IAGP)
Rhizomelia  (IAGP)
Rib fusion  (IAGP)
Shallow acetabular fossae  (IAGP)
Short foot  (IAGP)
Short long bone  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Small face  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Squared iliac bones  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Talipes equinovarus  (IAGP)
Temporal cortical atrophy  (IAGP)
Thin upper lip vermilion  (IAGP)
Thoracic scoliosis  (IAGP)
Thrombocytopenia  (IAGP)
Type II transferrin isoform profile  (IAGP)
Ulnar deviation of finger  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vertebral segmentation defect  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9927668   PMID:10718198   PMID:11929878   PMID:11980916   PMID:12477932   PMID:14702039   PMID:15047703   PMID:15489334   PMID:15561718   PMID:16020545   PMID:16857184   PMID:19008299  
PMID:20301507   PMID:21873635   PMID:22939629   PMID:23956138   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26514267   PMID:27066481   PMID:27108190   PMID:27412679  
PMID:28514442   PMID:29507755   PMID:29568061   PMID:30833792   PMID:31073040   PMID:31091453   PMID:31586073   PMID:31732153   PMID:32707033   PMID:33499712   PMID:33845483   PMID:33961781  
PMID:34079125   PMID:34597346   PMID:34795231   PMID:35439318   PMID:35575683   PMID:35831314   PMID:35906200   PMID:35914814   PMID:36215168   PMID:36538041   PMID:37223481   PMID:37827155  
PMID:38569033  


Genomics

Comparative Map Data
COG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381773,193,055 - 73,208,507 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1773,193,055 - 73,208,507 (+)EnsemblGRCh38hg38GRCh38
GRCh371771,189,194 - 71,204,646 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361768,700,768 - 68,716,241 (+)NCBINCBI36Build 36hg18NCBI36
Build 341768,700,777 - 68,716,238NCBI
Celera1767,772,261 - 67,787,792 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1766,598,252 - 66,613,673 (+)NCBIHuRef
CHM1_11771,253,231 - 71,268,706 (+)NCBICHM1_1
T2T-CHM13v2.01774,082,780 - 74,098,235 (+)NCBIT2T-CHM13v2.0
Cog1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911113,540,004 - 113,560,157 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11113,539,995 - 113,557,880 (+)EnsemblGRCm39 Ensembl
GRCm3811113,649,178 - 113,669,331 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11113,649,169 - 113,667,054 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711113,510,843 - 113,523,715 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611113,465,636 - 113,478,491 (+)NCBIMGSCv36mm8
Celera11125,413,595 - 125,426,485 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1179.1NCBI
Cog1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81099,192,604 - 99,207,640 (+)NCBIGRCr8
mRatBN7.21098,695,481 - 98,708,495 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1098,695,423 - 98,709,292 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10103,747,653 - 103,760,486 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010103,210,694 - 103,223,531 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01098,615,739 - 98,628,535 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010102,167,594 - 102,180,569 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10102,167,771 - 102,180,569 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010101,847,253 - 101,860,117 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410103,279,513 - 103,292,311 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110103,293,878 - 103,306,630 (+)NCBI
Celera1097,302,709 - 97,315,508 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Cog1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547819,386 - 39,433 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547819,558 - 38,905 (-)NCBIChiLan1.0ChiLan1.0
COG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21989,210,305 - 89,225,893 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11794,019,682 - 94,050,761 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01767,120,989 - 67,136,480 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11772,571,586 - 72,591,953 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1772,576,526 - 72,591,953 (+)Ensemblpanpan1.1panPan2
COG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.196,965,583 - 6,990,905 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl96,957,192 - 6,978,309 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha97,587,172 - 7,600,040 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.097,638,470 - 7,651,346 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl97,638,470 - 7,651,425 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.197,678,886 - 7,691,748 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.097,781,792 - 7,794,619 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.097,842,797 - 7,855,660 (-)NCBIUU_Cfam_GSD_1.0
Cog1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056027,521,644 - 7,535,034 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366551,017,169 - 1,032,816 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366551,020,363 - 1,032,847 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl127,743,274 - 7,760,504 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1127,745,928 - 7,760,539 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2128,026,369 - 8,040,947 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11648,426,303 - 48,441,274 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1648,423,212 - 48,441,227 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607719,247,612 - 19,263,130 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in COG1
391 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
COG1, 1-BP INS, 2659C insertion COG1 congenital disorder of glycosylation [RCV000003839] Chr17:17q25.1 pathogenic
NM_018714.3(COG1):c.1070+5G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV000003840]|Nephrotic syndrome [RCV001849253] Chr17:73200026 [GRCh38]
Chr17:71196165 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001085241]|COG1-related disorder [RCV003935064]|not provided [RCV000224011]|not specified [RCV000081959] Chr17:73200000 [GRCh38]
Chr17:71196139 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000360182]|not provided [RCV000835503]|not specified [RCV000081960] Chr17:73200670 [GRCh38]
Chr17:71196809 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000275253]|not provided [RCV001682785]|not specified [RCV000081961] Chr17:73201184 [GRCh38]
Chr17:71197323 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_018714.3(COG1):c.1473C>T (p.Ser491=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000330440]|not provided [RCV001711580]|not specified [RCV000081962] Chr17:73201300 [GRCh38]
Chr17:71197439 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_018714.3(COG1):c.1782G>A (p.Glu594=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000389631]|not provided [RCV001610380]|not specified [RCV000081963] Chr17:73201609 [GRCh38]
Chr17:71197748 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2021TCC[1] (p.Leu675del) microsatellite COG1 congenital disorder of glycosylation [RCV001857393]|Inborn genetic diseases [RCV002513842]|not provided [RCV000081964] Chr17:73201847..73201849 [GRCh38]
Chr17:71197986..71197988 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2383-17T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV001520821]|not provided [RCV001711581]|not specified [RCV000081965] Chr17:73205536 [GRCh38]
Chr17:71201675 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.333G>A (p.Gln111=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000386790]|not provided [RCV000835498]|not specified [RCV000081966] Chr17:73196524 [GRCh38]
Chr17:71192663 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001089001]|COG1-related disorder [RCV003905066]|Inborn genetic diseases [RCV004019573]|not provided [RCV000513815]|not specified [RCV000081967] Chr17:73196592 [GRCh38]
Chr17:71192731 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.543A>G (p.Ala181=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000289169]|not provided [RCV000835499]|not specified [RCV000081968] Chr17:73196734 [GRCh38]
Chr17:71192873 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.903G>C (p.Gln301His) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001083023]|COG1-related disorder [RCV003925076]|not provided [RCV000436647]|not specified [RCV000202967] Chr17:73197386 [GRCh38]
Chr17:71193525 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.1348C>T (p.Gln450Ter) single nucleotide variant Malignant tumor of prostate [RCV000149258] Chr17:73201175 [GRCh38]
Chr17:71197314 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2125G>A (p.Val709Ile) single nucleotide variant Malignant tumor of prostate [RCV000149259] Chr17:73203051 [GRCh38]
Chr17:71199190 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.34C>T (p.Arg12Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001086689]|not provided [RCV000173467] Chr17:73193103 [GRCh38]
Chr17:71189242 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_018714.3(COG1):c.1117G>A (p.Val373Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000391472]|not specified [RCV000202771] Chr17:73200612 [GRCh38]
Chr17:71196751 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3 copy number gain See cases [RCV000141363] Chr17:73031361..73264388 [GRCh38]
Chr17:71027500..71260527 [GRCh37]
Chr17:68539095..68772122 [NCBI36]
Chr17:17q25.1		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_018714.3(COG1):c.743-10C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001079796]|not provided [RCV000153066] Chr17:73197216 [GRCh38]
Chr17:71193355 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.1958G>A (p.Gly653Glu) single nucleotide variant not provided [RCV000153067] Chr17:73201785 [GRCh38]
Chr17:71197924 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.655G>C (p.Glu219Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001852187]|Inborn genetic diseases [RCV003343673]|not provided [RCV000177305] Chr17:73196994 [GRCh38]
Chr17:71193133 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.775G>T (p.Val259Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001088408]|not provided [RCV000224216] Chr17:73197258 [GRCh38]
Chr17:71193397 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001086333]|COG1-related disorder [RCV003909877]|not provided [RCV000439844]|not specified [RCV000238972] Chr17:73201539 [GRCh38]
Chr17:71197678 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_018714.3(COG1):c.2806-13C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV000283612]|not provided [RCV002285314] Chr17:73208301 [GRCh38]
Chr17:71204440 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_018714.3(COG1):c.87G>C (p.Glu29Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000266933] Chr17:73193156 [GRCh38]
Chr17:71189295 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2620-10T>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001088348]|not provided [RCV000432435] Chr17:73206698 [GRCh38]
Chr17:71202837 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_018714.3(COG1):c.2304A>G (p.Thr768=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000945816] Chr17:73203715 [GRCh38]
Chr17:71199854 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000702152]|Inborn genetic diseases [RCV002523005] Chr17:73208408 [GRCh38]
Chr17:71204547 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.2(COG1):c.-19G>C single nucleotide variant Congenital disorder of glycosylation [RCV000365253] Chr17:73193051 [GRCh38]
Chr17:71189190 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.967C>A (p.His323Asn) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000308596] Chr17:73199918 [GRCh38]
Chr17:71196057 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.2(COG1):c.-27A>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001582967]|Congenital disorder of glycosylation [RCV000310547]|not provided [RCV001711935] Chr17:73193043 [GRCh38]
Chr17:71189182 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.303G>A (p.Pro101=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000282002] Chr17:73193372 [GRCh38]
Chr17:71189511 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000361571]|not provided [RCV001570165] Chr17:73193127 [GRCh38]
Chr17:71189266 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_018714.3(COG1):c.1282-3T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV000315945] Chr17:73201106 [GRCh38]
Chr17:71197245 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.315+8C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV000318298]|COG1-related disorder [RCV003910239] Chr17:73193392 [GRCh38]
Chr17:71189531 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.26C>T (p.Ala9Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000321053] Chr17:73193095 [GRCh38]
Chr17:71189234 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000372100]|Inborn genetic diseases [RCV002521119] Chr17:73193334 [GRCh38]
Chr17:71189473 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.542C>T (p.Ala181Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000399572]|Inborn genetic diseases [RCV002523004] Chr17:73196733 [GRCh38]
Chr17:71192872 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.2752A>G (p.Met918Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000378196] Chr17:73207203 [GRCh38]
Chr17:71203342 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.522T>C (p.Pro174=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000864891] Chr17:73196713 [GRCh38]
Chr17:71192852 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_018714.3(COG1):c.2619+11T>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV000381356] Chr17:73206273 [GRCh38]
Chr17:71202412 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.1011C>G (p.Thr337=) single nucleotide variant Congenital disorder of glycosylation [RCV000358768] Chr17:73199962 [GRCh38]
Chr17:71196101 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1230G>A (p.Pro410=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000875420] Chr17:73200725 [GRCh38]
Chr17:71196864 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.560+15C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV000344103] Chr17:73196766 [GRCh38]
Chr17:71192905 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000346903]|not provided [RCV000514562] Chr17:73206754 [GRCh38]
Chr17:71202893 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.838C>A (p.Leu280Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001850739]|Congenital disorder of glycosylation [RCV000402187]|Inborn genetic diseases [RCV002524437] Chr17:73197321 [GRCh38]
Chr17:71193460 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.2(COG1):c.-18G>T single nucleotide variant Congenital disorder of glycosylation [RCV000266001] Chr17:73193052 [GRCh38]
Chr17:71189191 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1157T>C (p.Met386Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000305503] Chr17:73200652 [GRCh38]
Chr17:71196791 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.628G>C (p.Glu210Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001860198]|not provided [RCV000597811] Chr17:73196967 [GRCh38]
Chr17:71193106 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.200G>T (p.Gly67Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000317425] Chr17:73193269 [GRCh38]
Chr17:71189408 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000355978] Chr17:73201145 [GRCh38]
Chr17:71197284 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2605G>A (p.Val869Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000326700] Chr17:73206248 [GRCh38]
Chr17:71202387 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1823del (p.Leu608fs) deletion not provided [RCV000520924] Chr17:73201650 [GRCh38]
Chr17:71197789 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_018714.3(COG1):c.1893C>T (p.Cys631=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000877945]|not provided [RCV003420035]|not specified [RCV000593345] Chr17:73201720 [GRCh38]
Chr17:71197859 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_018714.3(COG1):c.2816dup (p.Ala940fs) duplication COG1 congenital disorder of glycosylation [RCV000778512]|not provided [RCV000730241] Chr17:73208318..73208319 [GRCh38]
Chr17:71204457..71204458 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.728A>G (p.Asn243Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001855678]|not provided [RCV000732173] Chr17:73197067 [GRCh38]
Chr17:71193206 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_018714.3(COG1):c.529A>G (p.Ile177Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001087379]|not provided [RCV000437744] Chr17:73196720 [GRCh38]
Chr17:71192859 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_018714.3(COG1):c.153G>A (p.Met51Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001861485]|not provided [RCV000441872] Chr17:73193222 [GRCh38]
Chr17:71189361 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_018714.3(COG1):c.1580T>C (p.Val527Ala) single nucleotide variant not provided [RCV000523402] Chr17:73201407 [GRCh38]
Chr17:71197546 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_018714.3(COG1):c.2084_2085insCCTGGTAATAAAATGAC (p.His695_Gly696insLeuValIleLysTer) insertion not provided [RCV000520910] Chr17:73203010..73203011 [GRCh38]
Chr17:71199149..71199150 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001046057]|not provided [RCV000514967] Chr17:73208344 [GRCh38]
Chr17:71204483 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000533287]|not provided [RCV003223652] Chr17:73207242 [GRCh38]
Chr17:71203381 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.383C>T (p.Pro128Leu) single nucleotide variant Inborn genetic diseases [RCV003251001] Chr17:73196574 [GRCh38]
Chr17:71192713 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.4G>A (p.Ala2Thr) single nucleotide variant Inborn genetic diseases [RCV003242900] Chr17:73193073 [GRCh38]
Chr17:71189212 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.85G>A (p.Glu29Lys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000647917] Chr17:73193154 [GRCh38]
Chr17:71189293 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_018714.3(COG1):c.566C>T (p.Thr189Ile) single nucleotide variant Inborn genetic diseases [RCV004607853] Chr17:73196905 [GRCh38]
Chr17:71193044 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.913+55C>T single nucleotide variant not provided [RCV001643875] Chr17:73197451 [GRCh38]
Chr17:71193590 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_018714.3(COG1):c.914-55C>T single nucleotide variant not provided [RCV001537558] Chr17:73199810 [GRCh38]
Chr17:71195949 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.913+59G>A single nucleotide variant not provided [RCV001541871] Chr17:73197455 [GRCh38]
Chr17:71193594 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.316-178C>T single nucleotide variant not provided [RCV001610072] Chr17:73196329 [GRCh38]
Chr17:71192468 [GRCh37]
Chr17:17q25.1		 benign
NC_000017.11:g.73192834_73192854del deletion not provided [RCV001680690] Chr17:73192833..73192853 [GRCh38]
Chr17:71188972..71188992 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_018714.3(COG1):c.1071G>T (p.Met357Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001044238] Chr17:73200566 [GRCh38]
Chr17:71196705 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2729+28G>A single nucleotide variant not provided [RCV001546786] Chr17:73206845 [GRCh38]
Chr17:71202984 [GRCh37]
Chr17:17q25.1		 likely benign
NC_000017.11:g.73192858_73192938del deletion not provided [RCV001612316] Chr17:73192857..73192937 [GRCh38]
Chr17:71188996..71189076 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2073+292A>G single nucleotide variant not provided [RCV001690821] Chr17:73202192 [GRCh38]
Chr17:71198331 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.20C>T (p.Ser7Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001126281] Chr17:73193089 [GRCh38]
Chr17:71189228 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.2844A>G (p.Thr948=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002068657] Chr17:73208352 [GRCh38]
Chr17:71204491 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2682C>T (p.Asn894=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000966464]|COG1-related disorder [RCV003962828]|not provided [RCV003432970] Chr17:73206770 [GRCh38]
Chr17:71202909 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_018714.3(COG1):c.1710G>A (p.Leu570=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000970568]|not provided [RCV003424507] Chr17:73201537 [GRCh38]
Chr17:71197676 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.613G>A (p.Asp205Asn) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000877379] Chr17:73196952 [GRCh38]
Chr17:71193091 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2511-5C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122718] Chr17:73206149 [GRCh38]
Chr17:71202288 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000966463] Chr17:73203776 [GRCh38]
Chr17:71199915 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_018714.3(COG1):c.2418G>A (p.Ala806=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002068668]|not provided [RCV004721681] Chr17:73205588 [GRCh38]
Chr17:71201727 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001056127] Chr17:73203633 [GRCh38]
Chr17:71199772 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) copy number gain not provided [RCV000767767] Chr17:70720436..73175266 [GRCh37]
Chr17:17q24.3-25.1		 pathogenic
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) duplication COG1 congenital disorder of glycosylation [RCV000778510] Chr17:73206711..73206712 [GRCh38]
Chr17:71202850..71202851 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000778511] Chr17:73207242 [GRCh38]
Chr17:71203381 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1035A>G (p.Glu345=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002068637] Chr17:73199986 [GRCh38]
Chr17:71196125 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.96G>A (p.Gly32=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000875708]|not provided [RCV004584818] Chr17:73193165 [GRCh38]
Chr17:71189304 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.504C>T (p.Pro168=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002540905]|COG1-related disorder [RCV003950831] Chr17:73196695 [GRCh38]
Chr17:71192834 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2806-4G>T single nucleotide variant not provided [RCV000898607] Chr17:73208310 [GRCh38]
Chr17:71204449 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000798657]|Inborn genetic diseases [RCV002537095] Chr17:73208437 [GRCh38]
Chr17:71204576 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala) indel COG1 congenital disorder of glycosylation [RCV000802710] Chr17:73203109..73203110 [GRCh38]
Chr17:71199248..71199249 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.988G>A (p.Glu330Lys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000819653] Chr17:73199939 [GRCh38]
Chr17:71196078 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.105C>G (p.Arg35=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001432388] Chr17:73193174 [GRCh38]
Chr17:71189313 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000871005]|not provided [RCV003424409] Chr17:73203642 [GRCh38]
Chr17:71199781 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2729+3_2729+9del deletion COG1 congenital disorder of glycosylation [RCV002001521]|Inborn genetic diseases [RCV002592612] Chr17:73206819..73206825 [GRCh38]
Chr17:71202958..71202964 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2665dup (p.Arg889fs) duplication COG1 congenital disorder of glycosylation [RCV000990056]|not provided [RCV002223257] Chr17:73206747..73206748 [GRCh38]
Chr17:71202886..71202887 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000017.11:g.73192834G>C single nucleotide variant not provided [RCV001813844] Chr17:73192834 [GRCh38]
Chr17:71188973 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.327A>G (p.Pro109=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003104776] Chr17:73196518 [GRCh38]
Chr17:71192657 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2619+30G>A single nucleotide variant not provided [RCV001673385] Chr17:73206292 [GRCh38]
Chr17:71202431 [GRCh37]
Chr17:17q25.1		 benign
NC_000017.11:g.73193020_73193021dup duplication not provided [RCV001612105] Chr17:73193016..73193017 [GRCh38]
Chr17:71189155..71189156 [GRCh37]
Chr17:17q25.1		 benign
NC_000017.11:g.73192719G>A single nucleotide variant not provided [RCV001639847] Chr17:73192719 [GRCh38]
Chr17:71188858 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1281+80G>A single nucleotide variant not provided [RCV001657112] Chr17:73200856 [GRCh38]
Chr17:71196995 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1912A>C (p.Ser638Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002538953] Chr17:73201739 [GRCh38]
Chr17:71197878 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2620-11_2620-10del deletion COG1 congenital disorder of glycosylation [RCV002065788] Chr17:73206697..73206698 [GRCh38]
Chr17:71202836..71202837 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.57G>T (p.Ala19=) single nucleotide variant not provided [RCV000940914] Chr17:73193126 [GRCh38]
Chr17:71189265 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.466C>T (p.Leu156=) single nucleotide variant not provided [RCV000974646] Chr17:73196657 [GRCh38]
Chr17:71192796 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.822C>T (p.Tyr274=) single nucleotide variant not provided [RCV000977470] Chr17:73197305 [GRCh38]
Chr17:71193444 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2748G>A (p.Leu916=) single nucleotide variant not provided [RCV000885828] Chr17:73207199 [GRCh38]
Chr17:71203338 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1722C>T (p.Ser574=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001126375]|not provided [RCV003992450] Chr17:73201549 [GRCh38]
Chr17:71197688 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.2822G>A (p.Arg941His) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001242883] Chr17:73208330 [GRCh38]
Chr17:71204469 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122716]|Inborn genetic diseases [RCV003346330] Chr17:73205652 [GRCh38]
Chr17:71201791 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122717] Chr17:73205655 [GRCh38]
Chr17:71201794 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.542_543inv (p.Ala181Val) inversion COG1 congenital disorder of glycosylation [RCV001243565]|Inborn genetic diseases [RCV002564067] Chr17:73196733..73196734 [GRCh38]
Chr17:71192872..71192873 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.315+10C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128330] Chr17:73193394 [GRCh38]
Chr17:71189533 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.*41C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV001123811] Chr17:73208492 [GRCh38]
Chr17:71204631 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.402G>A (p.Ser134=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV000890281] Chr17:73196593 [GRCh38]
Chr17:71192732 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2826C>T (p.Ser942=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001493925] Chr17:73208334 [GRCh38]
Chr17:71204473 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1071-141G>A single nucleotide variant not provided [RCV001718541] Chr17:73200425 [GRCh38]
Chr17:71196564 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001066712] Chr17:73208356 [GRCh38]
Chr17:71204495 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.914-171T>C single nucleotide variant not provided [RCV001640902] Chr17:73199694 [GRCh38]
Chr17:71195833 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2510+137G>A single nucleotide variant not provided [RCV001718542] Chr17:73205817 [GRCh38]
Chr17:71201956 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.384G>A (p.Pro128=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128331] Chr17:73196575 [GRCh38]
Chr17:71192714 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.1695C>T (p.Thr565=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001126374] Chr17:73201522 [GRCh38]
Chr17:71197661 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2597A>G (p.His866Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122719] Chr17:73206240 [GRCh38]
Chr17:71202379 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001126371] Chr17:73201307 [GRCh38]
Chr17:71197446 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001123705]|Inborn genetic diseases [RCV002556675] Chr17:73200738 [GRCh38]
Chr17:71196877 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128422] Chr17:73201584 [GRCh38]
Chr17:71197723 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.733C>T (p.Pro245Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122616] Chr17:73197072 [GRCh38]
Chr17:71193211 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1282-48T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV001582429]|not provided [RCV001655918] Chr17:73201061 [GRCh38]
Chr17:71197200 [GRCh37]
Chr17:17q25.1		 benign
NC_000017.11:g.73192840_73192907del deletion not provided [RCV001708400] Chr17:73192831..73192898 [GRCh38]
Chr17:71188970..71189037 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2806-170C>T single nucleotide variant not provided [RCV001541845] Chr17:73208144 [GRCh38]
Chr17:71204283 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.2620-129T>C single nucleotide variant not provided [RCV001666154] Chr17:73206579 [GRCh38]
Chr17:71202718 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1070+199A>G single nucleotide variant not provided [RCV001684921] Chr17:73200220 [GRCh38]
Chr17:71196359 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1281+162C>T single nucleotide variant not provided [RCV001666332] Chr17:73200938 [GRCh38]
Chr17:71197077 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001126372] Chr17:73201448 [GRCh38]
Chr17:71197587 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001202775] Chr17:73201255 [GRCh38]
Chr17:71197394 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_018714.3(COG1):c.791C>T (p.Thr264Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122617]|Inborn genetic diseases [RCV003163279] Chr17:73197274 [GRCh38]
Chr17:71193413 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001122720] Chr17:73206260 [GRCh38]
Chr17:71202399 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1689G>A (p.Ala563=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001126373] Chr17:73201516 [GRCh38]
Chr17:71197655 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001123704]|Inborn genetic diseases [RCV003283989]|not provided [RCV004584851] Chr17:73200627 [GRCh38]
Chr17:71196766 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2808T>C (p.Val936=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001123810] Chr17:73208316 [GRCh38]
Chr17:71204455 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128421] Chr17:73201577 [GRCh38]
Chr17:71197716 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128423] Chr17:73201609 [GRCh38]
Chr17:71197748 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1784G>T (p.Gly595Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128424] Chr17:73201611 [GRCh38]
Chr17:71197750 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1890G>A (p.Gln630=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001128425] Chr17:73201717 [GRCh38]
Chr17:71197856 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_018714.3(COG1):c.1325A>G (p.Lys442Arg) single nucleotide variant Inborn genetic diseases [RCV004607857] Chr17:73201152 [GRCh38]
Chr17:71197291 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.454C>T (p.His152Tyr) single nucleotide variant Inborn genetic diseases [RCV004607859] Chr17:73196645 [GRCh38]
Chr17:71192784 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.179T>G (p.Ile60Ser) single nucleotide variant Inborn genetic diseases [RCV004607861] Chr17:73193248 [GRCh38]
Chr17:71189387 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.430A>C (p.Thr144Pro) single nucleotide variant Inborn genetic diseases [RCV004607852] Chr17:73196621 [GRCh38]
Chr17:71192760 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.830C>A (p.Pro277Gln) single nucleotide variant Inborn genetic diseases [RCV004607858] Chr17:73197313 [GRCh38]
Chr17:71193452 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_71189189)_(71189543_?)dup duplication COG1 congenital disorder of glycosylation [RCV001339590] Chr17:71189189..71189543 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001336451]|Inborn genetic diseases [RCV003346483] Chr17:73201809 [GRCh38]
Chr17:71197948 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001331067]|Inborn genetic diseases [RCV002546442] Chr17:73201194 [GRCh38]
Chr17:71197333 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001318832] Chr17:73205680 [GRCh38]
Chr17:71201819 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1453dup (p.Ser485fs) duplication COG1 congenital disorder of glycosylation [RCV001331068] Chr17:73201278..73201279 [GRCh38]
Chr17:71197417..71197418 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_018714.3(COG1):c.1274G>A (p.Arg425Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001336449] Chr17:73200769 [GRCh38]
Chr17:71196908 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.985G>A (p.Val329Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001312447] Chr17:73199936 [GRCh38]
Chr17:71196075 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1343C>T (p.Ala448Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001336450] Chr17:73201170 [GRCh38]
Chr17:71197309 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001352506] Chr17:73206763 [GRCh38]
Chr17:71202902 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1498A>T (p.Ser500Cys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001363756]|Inborn genetic diseases [RCV002547814] Chr17:73201325 [GRCh38]
Chr17:71197464 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.494G>A (p.Arg165Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001327127]|Inborn genetic diseases [RCV002546212] Chr17:73196685 [GRCh38]
Chr17:71192824 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.427G>A (p.Ala143Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001305415] Chr17:73196618 [GRCh38]
Chr17:71192757 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.671G>A (p.Arg224His) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001336453] Chr17:73197010 [GRCh38]
Chr17:71193149 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2082dup (p.His695fs) duplication COG1 congenital disorder of glycosylation [RCV001336452] Chr17:73203006..73203007 [GRCh38]
Chr17:71199145..71199146 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_018714.3(COG1):c.273C>G (p.Arg91=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001412605] Chr17:73193342 [GRCh38]
Chr17:71189481 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1116C>T (p.Tyr372=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001492278] Chr17:73200611 [GRCh38]
Chr17:71196750 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2514T>C (p.Ile838=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001436407] Chr17:73206157 [GRCh38]
Chr17:71202296 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1236G>A (p.Leu412=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001443563] Chr17:73200731 [GRCh38]
Chr17:71196870 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.705G>A (p.Lys235=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001404847] Chr17:73197044 [GRCh38]
Chr17:71193183 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1152C>T (p.Asp384=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001440035] Chr17:73200647 [GRCh38]
Chr17:71196786 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.913+98G>A single nucleotide variant not provided [RCV001675515] Chr17:73197494 [GRCh38]
Chr17:71193633 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.560+65C>T single nucleotide variant not provided [RCV001716187] Chr17:73196816 [GRCh38]
Chr17:71192955 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1070+137C>T single nucleotide variant not provided [RCV001641026] Chr17:73200158 [GRCh38]
Chr17:71196297 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.546C>T (p.Ala182=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001488469] Chr17:73196737 [GRCh38]
Chr17:71192876 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2511-194_2511-193insA insertion not provided [RCV001669854] Chr17:73205960..73205961 [GRCh38]
Chr17:71202099..71202100 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.1070+9C>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV001498599] Chr17:73200030 [GRCh38]
Chr17:71196169 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2805+39C>T single nucleotide variant not provided [RCV001799853] Chr17:73207295 [GRCh38]
Chr17:71203434 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2510+112G>A single nucleotide variant not provided [RCV001762841] Chr17:73205792 [GRCh38]
Chr17:71201931 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.533G>A (p.Arg178Gln) single nucleotide variant Inborn genetic diseases [RCV003163869]|not provided [RCV001758593] Chr17:73196724 [GRCh38]
Chr17:71192863 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del) microsatellite COG1 congenital disorder of glycosylation [RCV001872866] Chr17:73201233..73201235 [GRCh38]
Chr17:71197372..71197374 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1988C>T (p.Thr663Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001863710] Chr17:73201815 [GRCh38]
Chr17:71197954 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1834C>A (p.Leu612Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002045124] Chr17:73201661 [GRCh38]
Chr17:71197800 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2060G>C (p.Ser687Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002024915] Chr17:73201887 [GRCh38]
Chr17:71198026 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1071-15A>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001971110] Chr17:73200551 [GRCh38]
Chr17:71196690 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_018714.3(COG1):c.2281G>A (p.Gly761Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001908016]|Inborn genetic diseases [RCV003164221] Chr17:73203692 [GRCh38]
Chr17:71199831 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.732del (p.Gln244fs) deletion COG1 congenital disorder of glycosylation [RCV002039360] Chr17:73197071 [GRCh38]
Chr17:71193210 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.907C>T (p.Pro303Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002039291] Chr17:73197390 [GRCh38]
Chr17:71193529 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1523A>G (p.Gln508Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001945859] Chr17:73201350 [GRCh38]
Chr17:71197489 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2575C>T (p.Pro859Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002006180] Chr17:73206218 [GRCh38]
Chr17:71202357 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2233G>A (p.Val745Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001909561] Chr17:73203644 [GRCh38]
Chr17:71199783 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2262G>C (p.Gln754His) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001927757] Chr17:73203673 [GRCh38]
Chr17:71199812 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2272C>T (p.Arg758Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002024548] Chr17:73203683 [GRCh38]
Chr17:71199822 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.164G>C (p.Arg55Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001928375] Chr17:73193233 [GRCh38]
Chr17:71189372 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1744G>A (p.Val582Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001987485]|Inborn genetic diseases [RCV002563428] Chr17:73201571 [GRCh38]
Chr17:71197710 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1742T>C (p.Ile581Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001871158] Chr17:73201569 [GRCh38]
Chr17:71197708 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1130del (p.Lys377fs) deletion COG1 congenital disorder of glycosylation [RCV002022121] Chr17:73200624 [GRCh38]
Chr17:71196763 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_018714.3(COG1):c.2818G>A (p.Ala940Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001927605] Chr17:73208326 [GRCh38]
Chr17:71204465 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1723G>A (p.Val575Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001997549] Chr17:73201550 [GRCh38]
Chr17:71197689 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2600G>A (p.Arg867His) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001936808] Chr17:73206243 [GRCh38]
Chr17:71202382 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.505G>A (p.Val169Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001884515] Chr17:73196696 [GRCh38]
Chr17:71192835 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2382+4G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV001943242] Chr17:73203797 [GRCh38]
Chr17:71199936 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1935G>T (p.Glu645Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002037110] Chr17:73201762 [GRCh38]
Chr17:71197901 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2866C>T (p.Gln956Ter) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001961846] Chr17:73208374 [GRCh38]
Chr17:71204513 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1504G>A (p.Gly502Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002036571] Chr17:73201331 [GRCh38]
Chr17:71197470 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1771A>G (p.Ser591Gly) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001881105] Chr17:73201598 [GRCh38]
Chr17:71197737 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.565A>G (p.Thr189Ala) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001888776]|Inborn genetic diseases [RCV004611947] Chr17:73196904 [GRCh38]
Chr17:71193043 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1153G>A (p.Ala385Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001942996] Chr17:73200648 [GRCh38]
Chr17:71196787 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2383-17_2383-16inv inversion COG1 congenital disorder of glycosylation [RCV002049104] Chr17:73205536..73205537 [GRCh38]
Chr17:71201675..71201676 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2042G>A (p.Gly681Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001994971] Chr17:73201869 [GRCh38]
Chr17:71198008 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001938692] Chr17:73201311 [GRCh38]
Chr17:71197450 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2665C>T (p.Arg889Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002011610] Chr17:73206753 [GRCh38]
Chr17:71202892 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2546T>C (p.Ile849Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001901586] Chr17:73206189 [GRCh38]
Chr17:71202328 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1688C>T (p.Ala563Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001877455] Chr17:73201515 [GRCh38]
Chr17:71197654 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1108C>T (p.Leu370Phe) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002033530] Chr17:73200603 [GRCh38]
Chr17:71196742 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.599G>A (p.Cys200Tyr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001916802] Chr17:73196938 [GRCh38]
Chr17:71193077 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1474G>A (p.Val492Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001932625] Chr17:73201301 [GRCh38]
Chr17:71197440 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2719A>T (p.Ser907Cys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001957153] Chr17:73206807 [GRCh38]
Chr17:71202946 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1070+3A>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001932734] Chr17:73200024 [GRCh38]
Chr17:71196163 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2074-3C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV001933077] Chr17:73202997 [GRCh38]
Chr17:71199136 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2867A>C (p.Gln956Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001990843] Chr17:73208375 [GRCh38]
Chr17:71204514 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2891C>T (p.Thr964Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001938367] Chr17:73208399 [GRCh38]
Chr17:71204538 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1462G>T (p.Ala488Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001923850]|Inborn genetic diseases [RCV004044129] Chr17:73201289 [GRCh38]
Chr17:71197428 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2362T>C (p.Ser788Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001900418] Chr17:73203773 [GRCh38]
Chr17:71199912 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.47G>T (p.Arg16Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001940953] Chr17:73193116 [GRCh38]
Chr17:71189255 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2883A>C (p.Glu961Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001995821] Chr17:73208391 [GRCh38]
Chr17:71204530 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2675C>T (p.Thr892Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001938556]|Inborn genetic diseases [RCV004043587] Chr17:73206763 [GRCh38]
Chr17:71202902 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.509T>C (p.Leu170Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001956979] Chr17:73196700 [GRCh38]
Chr17:71192839 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2606T>G (p.Val869Gly) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001978864] Chr17:73206249 [GRCh38]
Chr17:71202388 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.305G>C (p.Arg102Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002009617] Chr17:73193374 [GRCh38]
Chr17:71189513 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.847G>A (p.Asp283Asn) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002012264] Chr17:73197330 [GRCh38]
Chr17:71193469 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2222C>T (p.Pro741Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001866708]|not provided [RCV003329415] Chr17:73203633 [GRCh38]
Chr17:71199772 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2035G>A (p.Val679Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001989196] Chr17:73201862 [GRCh38]
Chr17:71198001 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2890A>G (p.Thr964Ala) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001881032]|Inborn genetic diseases [RCV004611938] Chr17:73208398 [GRCh38]
Chr17:71204537 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.394T>C (p.Trp132Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001899653] Chr17:73196585 [GRCh38]
Chr17:71192724 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2189G>T (p.Ser730Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001903586] Chr17:73203115 [GRCh38]
Chr17:71199254 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1781_1782delinsGT (p.Glu594Gly) indel COG1 congenital disorder of glycosylation [RCV001883612] Chr17:73201608..73201609 [GRCh38]
Chr17:71197747..71197748 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.980C>T (p.Ser327Phe) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001931086] Chr17:73199931 [GRCh38]
Chr17:71196070 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.914G>A (p.Gly305Glu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002019649] Chr17:73199865 [GRCh38]
Chr17:71196004 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2840C>T (p.Pro947Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001907508] Chr17:73208348 [GRCh38]
Chr17:71204487 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.828G>T (p.Leu276Phe) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001878067] Chr17:73197311 [GRCh38]
Chr17:71193450 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2368G>C (p.Glu790Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001932395] Chr17:73203779 [GRCh38]
Chr17:71199918 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.79G>T (p.Ala27Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001866714] Chr17:73193148 [GRCh38]
Chr17:71189287 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.311A>G (p.Gln104Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV001958511] Chr17:73193380 [GRCh38]
Chr17:71189519 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.913+18C>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV002192204] Chr17:73197414 [GRCh38]
Chr17:71193553 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1017A>T (p.Ala339=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002088670] Chr17:73199968 [GRCh38]
Chr17:71196107 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2221-14_2221-13del deletion COG1 congenital disorder of glycosylation [RCV002087515] Chr17:73203617..73203618 [GRCh38]
Chr17:71199756..71199757 [GRCh37]
Chr17:17q25.1		 benign
NM_018714.3(COG1):c.575A>C (p.His192Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002084807] Chr17:73196914 [GRCh38]
Chr17:71193053 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.258C>T (p.Tyr86=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002128557] Chr17:73193327 [GRCh38]
Chr17:71189466 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.984C>T (p.Ile328=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002129983] Chr17:73199935 [GRCh38]
Chr17:71196074 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2620-13T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002106971] Chr17:73206695 [GRCh38]
Chr17:71202834 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.261C>T (p.Cys87=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002197407] Chr17:73193330 [GRCh38]
Chr17:71189469 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2620-9G>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002094691] Chr17:73206699 [GRCh38]
Chr17:71202838 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2220+18del deletion COG1 congenital disorder of glycosylation [RCV002115602] Chr17:73203162 [GRCh38]
Chr17:71199301 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.9C>T (p.Thr3=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002113299] Chr17:73193078 [GRCh38]
Chr17:71189217 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.561-6T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002211980]|Inborn genetic diseases [RCV002561616] Chr17:73196894 [GRCh38]
Chr17:71193033 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_018714.3(COG1):c.126G>A (p.Glu42=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002171426] Chr17:73193195 [GRCh38]
Chr17:71189334 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.930C>T (p.Val310=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002174398] Chr17:73199881 [GRCh38]
Chr17:71196020 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2781C>T (p.Thr927=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002131301] Chr17:73207232 [GRCh38]
Chr17:71203371 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2220+18G>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002153605] Chr17:73203164 [GRCh38]
Chr17:71199303 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2790C>T (p.Ile930=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002172216] Chr17:73207241 [GRCh38]
Chr17:71203380 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2406C>T (p.Thr802=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002075375] Chr17:73205576 [GRCh38]
Chr17:71201715 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2892G>A (p.Thr964=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002135769] Chr17:73208400 [GRCh38]
Chr17:71204539 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2223G>A (p.Pro741=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002102616] Chr17:73203634 [GRCh38]
Chr17:71199773 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1350G>A (p.Gln450=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002176344] Chr17:73201177 [GRCh38]
Chr17:71197316 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2221-7C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV002182152] Chr17:73203625 [GRCh38]
Chr17:71199764 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2383-14G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV002099532] Chr17:73205539 [GRCh38]
Chr17:71201678 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.549C>T (p.Ala183=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002163865] Chr17:73196740 [GRCh38]
Chr17:71192879 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2073+17C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV002142934] Chr17:73201917 [GRCh38]
Chr17:71198056 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.914-8C>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV002104075] Chr17:73199857 [GRCh38]
Chr17:71195996 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2841G>A (p.Pro947=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002204375] Chr17:73208349 [GRCh38]
Chr17:71204488 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2052C>A (p.Val684=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002184053] Chr17:73201879 [GRCh38]
Chr17:71198018 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1767A>G (p.Leu589=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002142068] Chr17:73201594 [GRCh38]
Chr17:71197733 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.308C>T (p.Ala103Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003110212] Chr17:73193377 [GRCh38]
Chr17:71189516 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003114781] Chr17:73201115 [GRCh38]
Chr17:71197254 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1813A>G (p.Ser605Gly) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003121913] Chr17:73201640 [GRCh38]
Chr17:71197779 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.560G>A (p.Arg187Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003121948] Chr17:73196751 [GRCh38]
Chr17:71192890 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1589A>G (p.Asp530Gly) single nucleotide variant Inborn genetic diseases [RCV004607854] Chr17:73201416 [GRCh38]
Chr17:71197555 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1249A>G (p.Met417Val) single nucleotide variant Inborn genetic diseases [RCV004607856] Chr17:73200744 [GRCh38]
Chr17:71196883 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1909G>C (p.Glu637Gln) single nucleotide variant Inborn genetic diseases [RCV004607860] Chr17:73201736 [GRCh38]
Chr17:71197875 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.11:g.73192832_73192883del deletion not provided [RCV002285664] Chr17:73192819..73192870 [GRCh38]
Chr17:71188958..71189009 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2221-209C>T single nucleotide variant not provided [RCV002285809] Chr17:73203423 [GRCh38]
Chr17:71199562 [GRCh37]
Chr17:17q25.1		 likely benign
NC_000017.11:g.73192846C>G single nucleotide variant not provided [RCV002285846] Chr17:73192846 [GRCh38]
Chr17:71188985 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2057G>T (p.Ser686Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002303344] Chr17:73201884 [GRCh38]
Chr17:71198023 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2510+6G>A single nucleotide variant Inborn genetic diseases [RCV002732973] Chr17:73205686 [GRCh38]
Chr17:71201825 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1221G>A (p.Leu407=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002681434] Chr17:73200716 [GRCh38]
Chr17:71196855 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2392G>A (p.Ala798Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003076365] Chr17:73205562 [GRCh38]
Chr17:71201701 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.329C>T (p.Ser110Phe) single nucleotide variant Inborn genetic diseases [RCV002733998] Chr17:73196520 [GRCh38]
Chr17:71192659 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.810T>C (p.His270=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002971559]|COG1-related disorder [RCV003961310] Chr17:73197293 [GRCh38]
Chr17:71193432 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.423C>T (p.Leu141=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002756358] Chr17:73196614 [GRCh38]
Chr17:71192753 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2634G>A (p.Leu878=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003073976] Chr17:73206722 [GRCh38]
Chr17:71202861 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2805+18G>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002771234] Chr17:73207274 [GRCh38]
Chr17:71203413 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002858696] Chr17:73206774 [GRCh38]
Chr17:71202913 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_018714.3(COG1):c.511T>C (p.Ser171Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002904444] Chr17:73196702 [GRCh38]
Chr17:71192841 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2414G>A (p.Arg805Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002971233]|Inborn genetic diseases [RCV004068247] Chr17:73205584 [GRCh38]
Chr17:71201723 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.561-11_561-9del microsatellite COG1 congenital disorder of glycosylation [RCV002995161] Chr17:73196885..73196887 [GRCh38]
Chr17:71193024..71193026 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2715A>G (p.Ala905=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002775180] Chr17:73206803 [GRCh38]
Chr17:71202942 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2786A>T (p.Asn929Ile) single nucleotide variant Inborn genetic diseases [RCV002751824] Chr17:73207237 [GRCh38]
Chr17:71203376 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2619+17A>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV003034416] Chr17:73206279 [GRCh38]
Chr17:71202418 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2578C>T (p.His860Tyr) single nucleotide variant Inborn genetic diseases [RCV002732532] Chr17:73206221 [GRCh38]
Chr17:71202360 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2486G>A (p.Ser829Asn) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003016033] Chr17:73205656 [GRCh38]
Chr17:71201795 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2664C>T (p.Pro888=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002903565] Chr17:73206752 [GRCh38]
Chr17:71202891 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.423C>G (p.Leu141=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002885611] Chr17:73196614 [GRCh38]
Chr17:71192753 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.560+18A>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002800159] Chr17:73196769 [GRCh38]
Chr17:71192908 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003081572] Chr17:73201417 [GRCh38]
Chr17:71197556 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2008G>A (p.Val670Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002592274] Chr17:73201835 [GRCh38]
Chr17:71197974 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2629G>A (p.Gly877Arg) single nucleotide variant Inborn genetic diseases [RCV002708273] Chr17:73206717 [GRCh38]
Chr17:71202856 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2805+13_2805+20del deletion COG1 congenital disorder of glycosylation [RCV002736709] Chr17:73207267..73207274 [GRCh38]
Chr17:71203406..71203413 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.626C>T (p.Ala209Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003078044]|Inborn genetic diseases [RCV003078045] Chr17:73196965 [GRCh38]
Chr17:71193104 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.833_835del (p.Glu278del) deletion COG1 congenital disorder of glycosylation [RCV002619432] Chr17:73197314..73197316 [GRCh38]
Chr17:71193453..71193455 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2116G>C (p.Ala706Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002780780] Chr17:73203042 [GRCh38]
Chr17:71199181 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2836G>C (p.Asp946His) single nucleotide variant Inborn genetic diseases [RCV002782818] Chr17:73208344 [GRCh38]
Chr17:71204483 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.272G>T (p.Arg91Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003054134] Chr17:73193341 [GRCh38]
Chr17:71189480 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2007G>C (p.Glu669Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002694939] Chr17:73201834 [GRCh38]
Chr17:71197973 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003019751] Chr17:73207198 [GRCh38]
Chr17:71203337 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.334_336del (p.Glu112del) deletion COG1 congenital disorder of glycosylation [RCV002690801]|Inborn genetic diseases [RCV002690800] Chr17:73196523..73196525 [GRCh38]
Chr17:71192662..71192664 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1140G>A (p.Ala380=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002619794] Chr17:73200635 [GRCh38]
Chr17:71196774 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2066T>C (p.Val689Ala) single nucleotide variant Inborn genetic diseases [RCV002848662] Chr17:73201893 [GRCh38]
Chr17:71198032 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1456G>A (p.Asp486Asn) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003079440]|Inborn genetic diseases [RCV004071823] Chr17:73201283 [GRCh38]
Chr17:71197422 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.742+14C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV002761677] Chr17:73197095 [GRCh38]
Chr17:71193234 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.11C>G (p.Ala4Gly) single nucleotide variant Inborn genetic diseases [RCV002781781] Chr17:73193080 [GRCh38]
Chr17:71189219 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.189C>A (p.Ala63=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002622407] Chr17:73193258 [GRCh38]
Chr17:71189397 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2555T>C (p.Phe852Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002761341] Chr17:73206198 [GRCh38]
Chr17:71202337 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1183A>C (p.Thr395Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002952661] Chr17:73200678 [GRCh38]
Chr17:71196817 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1781A>G (p.Glu594Gly) single nucleotide variant Inborn genetic diseases [RCV002980923] Chr17:73201608 [GRCh38]
Chr17:71197747 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.125A>C (p.Glu42Ala) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002690999] Chr17:73193194 [GRCh38]
Chr17:71189333 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1139C>T (p.Ala380Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003002583]|Inborn genetic diseases [RCV003002584] Chr17:73200634 [GRCh38]
Chr17:71196773 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1246G>T (p.Asp416Tyr) single nucleotide variant Inborn genetic diseases [RCV002888102] Chr17:73200741 [GRCh38]
Chr17:71196880 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.403A>T (p.Met135Leu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002949076] Chr17:73196594 [GRCh38]
Chr17:71192733 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1696G>A (p.Val566Met) single nucleotide variant Inborn genetic diseases [RCV002697600] Chr17:73201523 [GRCh38]
Chr17:71197662 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1952A>G (p.Lys651Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002700094]|Inborn genetic diseases [RCV004066908] Chr17:73201779 [GRCh38]
Chr17:71197918 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2806-19_2806-15del deletion COG1 congenital disorder of glycosylation [RCV002667965] Chr17:73208294..73208298 [GRCh38]
Chr17:71204433..71204437 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.701G>A (p.Arg234Lys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002918423] Chr17:73197040 [GRCh38]
Chr17:71193179 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1980C>A (p.Ile660=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002932814] Chr17:73201807 [GRCh38]
Chr17:71197946 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.622G>A (p.Val208Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002741726] Chr17:73196961 [GRCh38]
Chr17:71193100 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1826A>C (p.His609Pro) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003502685]|Inborn genetic diseases [RCV002641911] Chr17:73201653 [GRCh38]
Chr17:71197792 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2492G>A (p.Arg831Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003056622] Chr17:73205662 [GRCh38]
Chr17:71201801 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.561-6T>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV003006241] Chr17:73196894 [GRCh38]
Chr17:71193033 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.649C>G (p.Leu217Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003023325] Chr17:73196988 [GRCh38]
Chr17:71193127 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.148C>T (p.Gln50Ter) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002801336] Chr17:73193217 [GRCh38]
Chr17:71189356 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_018714.3(COG1):c.850C>T (p.Pro284Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003041620] Chr17:73197333 [GRCh38]
Chr17:71193472 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.315+9C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV002829227] Chr17:73193393 [GRCh38]
Chr17:71189532 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1446C>G (p.Asp482Glu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002928610] Chr17:73201273 [GRCh38]
Chr17:71197412 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2220+15T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV003085152] Chr17:73203161 [GRCh38]
Chr17:71199300 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.254dup (p.Tyr86fs) duplication COG1 congenital disorder of glycosylation [RCV002876073] Chr17:73193322..73193323 [GRCh38]
Chr17:71189461..71189462 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_018714.3(COG1):c.1207T>C (p.Cys403Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002829062]|Inborn genetic diseases [RCV004064937] Chr17:73200702 [GRCh38]
Chr17:71196841 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.565A>C (p.Thr189Pro) single nucleotide variant Inborn genetic diseases [RCV002641597] Chr17:73196904 [GRCh38]
Chr17:71193043 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2573C>T (p.Thr858Met) single nucleotide variant Inborn genetic diseases [RCV002804481] Chr17:73206216 [GRCh38]
Chr17:71202355 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2216C>T (p.Ala739Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003005182]|Inborn genetic diseases [RCV004068485] Chr17:73203142 [GRCh38]
Chr17:71199281 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_018714.3(COG1):c.913G>A (p.Gly305Arg) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002632720] Chr17:73197396 [GRCh38]
Chr17:71193535 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2659G>A (p.Ala887Thr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002647622] Chr17:73206747 [GRCh38]
Chr17:71202886 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2525C>T (p.Thr842Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002900284] Chr17:73206168 [GRCh38]
Chr17:71202307 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.628G>A (p.Glu210Lys) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002938238] Chr17:73196967 [GRCh38]
Chr17:71193106 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2872G>A (p.Val958Ile) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002646604] Chr17:73208380 [GRCh38]
Chr17:71204519 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2730-18T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV002600572] Chr17:73207163 [GRCh38]
Chr17:71203302 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1516A>G (p.Lys506Glu) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002922530] Chr17:73201343 [GRCh38]
Chr17:71197482 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2437C>G (p.Leu813Val) single nucleotide variant Inborn genetic diseases [RCV002896793] Chr17:73205607 [GRCh38]
Chr17:71201746 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1993G>T (p.Ala665Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002805935] Chr17:73201820 [GRCh38]
Chr17:71197959 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.561-1G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV003008412] Chr17:73196899 [GRCh38]
Chr17:71193038 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_018714.3(COG1):c.2515G>C (p.Glu839Gln) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002833086] Chr17:73206158 [GRCh38]
Chr17:71202297 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002650955] Chr17:73199957 [GRCh38]
Chr17:71196096 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_018714.3(COG1):c.2124A>C (p.Ser708=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002877002] Chr17:73203050 [GRCh38]
Chr17:71199189 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2510+5C>T single nucleotide variant Inborn genetic diseases [RCV002835567] Chr17:73205685 [GRCh38]
Chr17:71201824 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.180C>G (p.Ile60Met) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003063176]|Inborn genetic diseases [RCV004614328] Chr17:73193249 [GRCh38]
Chr17:71189388 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.163C>T (p.Arg55Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002632833] Chr17:73193232 [GRCh38]
Chr17:71189371 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2681A>G (p.Asn894Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002651093] Chr17:73206769 [GRCh38]
Chr17:71202908 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.510C>T (p.Leu170=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003027802] Chr17:73196701 [GRCh38]
Chr17:71192840 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2220+9G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV002608250] Chr17:73203155 [GRCh38]
Chr17:71199294 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2676G>A (p.Thr892=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003072752] Chr17:73206764 [GRCh38]
Chr17:71202903 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.220G>C (p.Val74Leu) single nucleotide variant Inborn genetic diseases [RCV002722420] Chr17:73193289 [GRCh38]
Chr17:71189428 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.448T>A (p.Cys150Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003067256] Chr17:73196639 [GRCh38]
Chr17:71192778 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003070870] Chr17:73206261 [GRCh38]
Chr17:71202400 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.750T>C (p.Gly250=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002582257] Chr17:73197233 [GRCh38]
Chr17:71193372 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2413C>G (p.Arg805Gly) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002610827]|Inborn genetic diseases [RCV003161939] Chr17:73205583 [GRCh38]
Chr17:71201722 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2220+15T>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV003071172] Chr17:73203161 [GRCh38]
Chr17:71199300 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1A>G (p.Met1Val) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002653287] Chr17:73193070 [GRCh38]
Chr17:71189209 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.514C>T (p.Arg172Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV002606774]|Inborn genetic diseases [RCV003250797] Chr17:73196705 [GRCh38]
Chr17:71192844 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.559C>T (p.Arg187Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003145082] Chr17:73196750 [GRCh38]
Chr17:71192889 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003145083] Chr17:73201538 [GRCh38]
Chr17:71197677 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.190G>A (p.Asp64Asn) single nucleotide variant Inborn genetic diseases [RCV003295799] Chr17:73193259 [GRCh38]
Chr17:71189398 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.967C>T (p.His323Tyr) single nucleotide variant Inborn genetic diseases [RCV003184815]|not provided [RCV003329475] Chr17:73199918 [GRCh38]
Chr17:71196057 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2420T>C (p.Leu807Pro) single nucleotide variant Inborn genetic diseases [RCV003179669] Chr17:73205590 [GRCh38]
Chr17:71201729 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1102A>G (p.Asn368Asp) single nucleotide variant Inborn genetic diseases [RCV003199524] Chr17:73200597 [GRCh38]
Chr17:71196736 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2470G>A (p.Gly824Ser) single nucleotide variant Inborn genetic diseases [RCV003304342] Chr17:73205640 [GRCh38]
Chr17:71201779 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.218C>A (p.Ala73Asp) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003340942] Chr17:73193287 [GRCh38]
Chr17:71189426 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1605C>T (p.Tyr535=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003503175] Chr17:73201432 [GRCh38]
Chr17:71197571 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.117C>T (p.Ala39=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003503464] Chr17:73193186 [GRCh38]
Chr17:71189325 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.315+18C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV003504367] Chr17:73193402 [GRCh38]
Chr17:71189541 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.560+8G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV003503729] Chr17:73196759 [GRCh38]
Chr17:71192898 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2383-10T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV003503772] Chr17:73205543 [GRCh38]
Chr17:71201682 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2928T>C (p.Ser976=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003873690] Chr17:73208436 [GRCh38]
Chr17:71204575 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1680C>T (p.Tyr560=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003504440] Chr17:73201507 [GRCh38]
Chr17:71197646 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003504336] Chr17:73203636 [GRCh38]
Chr17:71199775 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.743-4T>C single nucleotide variant COG1 congenital disorder of glycosylation [RCV003874192]|COG1-related disorder [RCV003949084] Chr17:73197222 [GRCh38]
Chr17:71193361 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q24.3-25.1(chr17:69501527-71380722)x1 copy number loss not provided [RCV003483324] Chr17:69501527..71380722 [GRCh37]
Chr17:17q24.3-25.1		 pathogenic
NM_018714.3(COG1):c.252C>T (p.Asp84=) single nucleotide variant not provided [RCV003428437] Chr17:73193321 [GRCh38]
Chr17:71189460 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1221G>C (p.Leu407=) single nucleotide variant not provided [RCV003421451] Chr17:73200716 [GRCh38]
Chr17:71196855 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2337A>G (p.Gln779=) single nucleotide variant not provided [RCV003421452] Chr17:73203748 [GRCh38]
Chr17:71199887 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2498A>C (p.Lys833Thr) single nucleotide variant not provided [RCV003421453] Chr17:73205668 [GRCh38]
Chr17:71201807 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2805+448C>T single nucleotide variant not provided [RCV003413323] Chr17:73207704 [GRCh38]
Chr17:71203843 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2574G>A (p.Thr858=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609714] Chr17:73206217 [GRCh38]
Chr17:71202356 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.316-6C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609948] Chr17:73196501 [GRCh38]
Chr17:71192640 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.573G>T (p.Leu191=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609791] Chr17:73196912 [GRCh38]
Chr17:71193051 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.426C>T (p.His142=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609957] Chr17:73196617 [GRCh38]
Chr17:71192756 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2825C>T (p.Ser942Phe) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003610112] Chr17:73208333 [GRCh38]
Chr17:71204472 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1282-15C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV003880244] Chr17:73201094 [GRCh38]
Chr17:71197233 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.987C>T (p.Val329=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609838] Chr17:73199938 [GRCh38]
Chr17:71196077 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2817G>A (p.Pro939=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609841] Chr17:73208325 [GRCh38]
Chr17:71204464 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2562G>A (p.Leu854=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003610020] Chr17:73206205 [GRCh38]
Chr17:71202344 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1091del (p.Asn364fs) deletion COG1 congenital disorder of glycosylation [RCV003610058] Chr17:73200582 [GRCh38]
Chr17:71196721 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_018714.3(COG1):c.2199C>G (p.Ser733=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609103] Chr17:73203125 [GRCh38]
Chr17:71199264 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.914-8C>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV003879345] Chr17:73199857 [GRCh38]
Chr17:71195996 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1149G>A (p.Arg383=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003609567] Chr17:73200644 [GRCh38]
Chr17:71196783 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2862C>T (p.Phe954=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003881119] Chr17:73208370 [GRCh38]
Chr17:71204509 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1206A>G (p.Leu402=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003610352] Chr17:73200701 [GRCh38]
Chr17:71196840 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.913+9T>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV003610822] Chr17:73197405 [GRCh38]
Chr17:71193544 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2220+14A>G single nucleotide variant COG1 congenital disorder of glycosylation [RCV003610818] Chr17:73203160 [GRCh38]
Chr17:71199299 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2361C>G (p.Leu787=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003849956] Chr17:73203772 [GRCh38]
Chr17:71199911 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2484G>A (p.Lys828=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003840301] Chr17:73205654 [GRCh38]
Chr17:71201793 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.599G>C (p.Cys200Ser) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003610563] Chr17:73196938 [GRCh38]
Chr17:71193077 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.560+16G>A single nucleotide variant COG1 congenital disorder of glycosylation [RCV003836897] Chr17:73196767 [GRCh38]
Chr17:71192906 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.552C>T (p.Ser184=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003502437] Chr17:73196743 [GRCh38]
Chr17:71192882 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.316-9C>T single nucleotide variant COG1 congenital disorder of glycosylation [RCV003855971] Chr17:73196498 [GRCh38]
Chr17:71192637 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1530C>T (p.Ile510=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003816210] Chr17:73201357 [GRCh38]
Chr17:71197496 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1578G>A (p.Lys526=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003862987] Chr17:73201405 [GRCh38]
Chr17:71197544 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.1137C>T (p.Leu379=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003860407] Chr17:73200632 [GRCh38]
Chr17:71196771 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.204G>A (p.Gln68=) single nucleotide variant COG1 congenital disorder of glycosylation [RCV003841368] Chr17:73193273 [GRCh38]
Chr17:71189412 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2864G>A (p.Arg955Lys) single nucleotide variant Inborn genetic diseases [RCV004444427] Chr17:73208372 [GRCh38]
Chr17:71204511 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1423C>G (p.Leu475Val) single nucleotide variant Inborn genetic diseases [RCV004444421] Chr17:73201250 [GRCh38]
Chr17:71197389 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1636G>A (p.Asp546Asn) single nucleotide variant Inborn genetic diseases [RCV004444422] Chr17:73201463 [GRCh38]
Chr17:71197602 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.539T>A (p.Val180Glu) single nucleotide variant Inborn genetic diseases [RCV004444430] Chr17:73196730 [GRCh38]
Chr17:71192869 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.643A>C (p.Ile215Leu) single nucleotide variant Inborn genetic diseases [RCV004444432] Chr17:73196982 [GRCh38]
Chr17:71193121 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.25G>A (p.Ala9Thr) single nucleotide variant Inborn genetic diseases [RCV004444426] Chr17:73193094 [GRCh38]
Chr17:71189233 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1148G>A (p.Arg383Gln) single nucleotide variant Inborn genetic diseases [RCV004444420] Chr17:73200643 [GRCh38]
Chr17:71196782 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.43C>A (p.Leu15Met) single nucleotide variant Inborn genetic diseases [RCV004444428] Chr17:73193112 [GRCh38]
Chr17:71189251 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.50A>C (p.Asp17Ala) single nucleotide variant Inborn genetic diseases [RCV004444429] Chr17:73193119 [GRCh38]
Chr17:71189258 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2475C>T (p.Asp825=) single nucleotide variant COG1-related disorder [RCV003934764] Chr17:73205645 [GRCh38]
Chr17:71201784 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2491C>T (p.Arg831Trp) single nucleotide variant Inborn genetic diseases [RCV004444425] Chr17:73205661 [GRCh38]
Chr17:71201800 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.588G>A (p.Met196Ile) single nucleotide variant Inborn genetic diseases [RCV004444431] Chr17:73196927 [GRCh38]
Chr17:71193066 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2709A>G (p.Pro903=) single nucleotide variant COG1-related disorder [RCV003951758] Chr17:73206797 [GRCh38]
Chr17:71202936 [GRCh37]
Chr17:17q25.1		 likely benign
NM_018714.3(COG1):c.2821C>T (p.Arg941Cys) single nucleotide variant Inborn genetic diseases [RCV004615722] Chr17:73208329 [GRCh38]
Chr17:71204468 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.2287G>T (p.Ala763Ser) single nucleotide variant Inborn genetic diseases [RCV004615724] Chr17:73203698 [GRCh38]
Chr17:71199837 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_71195984)_(71199305_?)del deletion COG1 congenital disorder of glycosylation [RCV004581307] Chr17:71195984..71199305 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_018714.3(COG1):c.640T>C (p.Ser214Pro) single nucleotide variant Inborn genetic diseases [RCV004615723] Chr17:73196979 [GRCh38]
Chr17:71193118 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_018714.3(COG1):c.1425C>T (p.Leu475=) single nucleotide variant COG1-related disorder [RCV004758507] Chr17:73201252 [GRCh38]
Chr17:71197391 [GRCh37]
Chr17:17q25.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2097
Count of miRNA genes:832
Interacting mature miRNAs:932
Transcripts:ENST00000299886, ENST00000438720, ENST00000577238, ENST00000577844, ENST00000580271, ENST00000582512, ENST00000582587, ENST00000582672, ENST00000582973
Prediction methods:Microtar, Miranda, Pita, 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
407111790GWAS760766_Herythrocyte count QTL GWAS760766 (human)9e-09erythrocyte countred blood cell count (CMO:0000025)177319981073199811Human

Markers in Region
SHGC-52397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371771,199,146 - 71,199,332UniSTSGRCh37
Build 361768,710,741 - 68,710,927RGDNCBI36
Celera1767,782,291 - 67,782,477RGD
Cytogenetic Map17q25.1UniSTS
HuRef1766,608,218 - 66,608,404UniSTS
TNG Radiation Hybrid Map1732324.0UniSTS
GeneMap99-G3 RH Map173632.0UniSTS
RH18160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371771,203,508 - 71,203,709UniSTSGRCh37
Build 361768,715,103 - 68,715,304RGDNCBI36
Celera1767,786,654 - 67,786,855RGD
Cytogenetic Map17q25.1UniSTS
HuRef1766,612,535 - 66,612,736UniSTS
RH66230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371771,195,969 - 71,196,084UniSTSGRCh37
Build 361768,707,564 - 68,707,679RGDNCBI36
Celera1767,779,114 - 67,779,229RGD
Cytogenetic Map17q25.1UniSTS
HuRef1766,605,041 - 66,605,156UniSTS
GeneMap99-GB4 RH Map17460.09UniSTS
A004R48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371771,203,605 - 71,203,769UniSTSGRCh37
Build 361768,715,200 - 68,715,364RGDNCBI36
Celera1767,786,751 - 67,786,915RGD
Cytogenetic Map17q25.1UniSTS
HuRef1766,612,632 - 66,612,796UniSTS
GeneMap99-GB4 RH Map17459.98UniSTS


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 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000299886   ⟹   ENSP00000299886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,193,055 - 73,208,507 (+)Ensembl
Ensembl Acc Id: ENST00000438720   ⟹   ENSP00000400111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,193,072 - 73,208,504 (+)Ensembl
Ensembl Acc Id: ENST00000577238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,205,938 - 73,207,089 (+)Ensembl
Ensembl Acc Id: ENST00000577844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,205,136 - 73,206,188 (+)Ensembl
Ensembl Acc Id: ENST00000580271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,205,571 - 73,207,089 (+)Ensembl
Ensembl Acc Id: ENST00000582512   ⟹   ENSP00000463696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,205,615 - 73,208,420 (+)Ensembl
Ensembl Acc Id: ENST00000582587   ⟹   ENSP00000462101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,193,093 - 73,197,081 (+)Ensembl
Ensembl Acc Id: ENST00000582672   ⟹   ENSP00000463298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,206,159 - 73,207,931 (+)Ensembl
Ensembl Acc Id: ENST00000582973   ⟹   ENSP00000462709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,206,741 - 73,208,507 (+)Ensembl
Ensembl Acc Id: ENST00000618996   ⟹   ENSP00000479450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1773,192,632 - 73,208,503 (+)Ensembl
RefSeq Acc Id: NM_018714   ⟹   NP_061184
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381773,193,055 - 73,208,507 (+)NCBI
GRCh371771,189,070 - 71,204,646 (+)NCBI
Build 361768,700,768 - 68,716,241 (+)NCBI Archive
Celera1767,772,261 - 67,787,792 (+)RGD
HuRef1766,598,252 - 66,613,673 (+)ENTREZGENE
CHM1_11771,253,231 - 71,268,706 (+)NCBI
T2T-CHM13v2.01774,082,780 - 74,098,235 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061184   ⟸   NM_018714
- UniProtKB: Q9NPV9 (UniProtKB/Swiss-Prot),   Q9P2G6 (UniProtKB/Swiss-Prot),   Q8WTW3 (UniProtKB/Swiss-Prot),   Q4G0L8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000400111   ⟸   ENST00000438720
Ensembl Acc Id: ENSP00000463298   ⟸   ENST00000582672
Ensembl Acc Id: ENSP00000463696   ⟸   ENST00000582512
Ensembl Acc Id: ENSP00000462101   ⟸   ENST00000582587
Ensembl Acc Id: ENSP00000462709   ⟸   ENST00000582973
Ensembl Acc Id: ENSP00000299886   ⟸   ENST00000299886
Ensembl Acc Id: ENSP00000479450   ⟸   ENST00000618996

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WTW3-F1-model_v2 AlphaFold Q8WTW3 1-980 view protein structure

Promoters
RGD ID:6793895
Promoter ID:HG_KWN:27009
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:ENST00000299886,   UC002JJF.1,   UC002JJH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361768,700,321 - 68,700,932 (+)MPROMDB
RGD ID:7236173
Promoter ID:EPDNEW_H23832
Type:initiation region
Name:COG1_1
Description:component of oligomeric golgi complex 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381773,193,058 - 73,193,118EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6545 AgrOrtholog
COSMIC COG1 COSMIC
Ensembl Genes ENSG00000166685 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299886 ENTREZGENE
  ENST00000299886.9 UniProtKB/Swiss-Prot
  ENST00000438720.7 UniProtKB/TrEMBL
  ENST00000582512.5 UniProtKB/TrEMBL
  ENST00000582587.2 UniProtKB/TrEMBL
  ENST00000582672.1 UniProtKB/TrEMBL
  ENST00000582973.1 UniProtKB/TrEMBL
GTEx ENSG00000166685 GTEx
HGNC ID HGNC:6545 ENTREZGENE
Human Proteome Map COG1 Human Proteome Map
InterPro COG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9382 UniProtKB/Swiss-Prot
NCBI Gene 9382 ENTREZGENE
OMIM 606973 OMIM
PANTHER CONSERVED OLIGOMERIC GOLGI COMPLEX SUBUNIT 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31658 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Vps51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26696 PharmGKB
UniProt COG1_HUMAN UniProtKB/Swiss-Prot
  E9PBL8_HUMAN UniProtKB/TrEMBL
  J3KRP4_HUMAN UniProtKB/TrEMBL
  J3KSY3_HUMAN UniProtKB/TrEMBL
  J3QKY9_HUMAN UniProtKB/TrEMBL
  J3QLT5_HUMAN UniProtKB/TrEMBL
  Q4G0L8 ENTREZGENE, UniProtKB/TrEMBL
  Q8WTW3 ENTREZGENE
  Q9NPV9 ENTREZGENE
  Q9P2G6 ENTREZGENE
UniProt Secondary Q9NPV9 UniProtKB/Swiss-Prot
  Q9P2G6 UniProtKB/Swiss-Prot