COG5 (component of oligomeric golgi complex 5) - Rat Genome Database

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Gene: COG5 (component of oligomeric golgi complex 5) Homo sapiens
Analyze
Symbol: COG5
Name: component of oligomeric golgi complex 5
RGD ID: 1319696
HGNC Page HGNC
Description: Acts upstream of or within inter-Golgi cisterna vesicle-mediated transport. Located in Golgi apparatus and nucleoplasm. Part of Golgi transport complex. Implicated in congenital disorder of glycosylation type IIi.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 13S golgi transport complex 1 90 kDa subunit; 13S Golgi transport complex 90 kDa subunit; CDG2I; COG complex subunit 5; conserved oligomeric Golgi complex protein 5; conserved oligomeric Golgi complex subunit 5; FLJ41732; FLJ44289; golgi transport complex 1; GOLTC1; GTC-90; GTC90
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7107,201,372 - 107,564,261 (-)EnsemblGRCh38hg38GRCh38
GRCh387107,201,372 - 107,564,361 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377106,841,817 - 107,204,365 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367106,630,227 - 106,991,721 (-)NCBINCBI36hg18NCBI36
Build 347106,436,941 - 106,798,436NCBI
Celera7101,647,486 - 102,010,231 (-)NCBI
Cytogenetic Map7q22.3NCBI
HuRef7101,202,742 - 101,565,584 (-)NCBIHuRef
CHM1_17106,776,168 - 107,138,910 (-)NCBICHM1_1
CRA_TCAGchr7v27106,203,276 - 106,566,048 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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 isoelectric focusing of serum transferrin  (IAGP)
Abnormality of the frontal hairline  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brisk reflexes  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Cerebral white matter atrophy  (IAGP)
Cryptorchidism  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dilation of lateral ventricles  (IAGP)
Elevated hepatic transaminase  (IAGP)
Finger clinodactyly  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Genu valgum  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High palate  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Neurogenic bladder  (IAGP)
Oligohydramnios  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature skin wrinkling  (IAGP)
Prominent nose  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Truncal ataxia  (IAGP)
Type II transferrin isoform profile  (IAGP)
Urinary incontinence  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:9792665   PMID:10782044   PMID:11929878   PMID:11980916   PMID:12477932   PMID:12853948   PMID:14702039   PMID:15047703   PMID:16020545   PMID:16051600   PMID:16344560   PMID:17356545  
PMID:18029348   PMID:18353293   PMID:19690088   PMID:19946888   PMID:20112360   PMID:20301507   PMID:20360068   PMID:20804914   PMID:20936779   PMID:21068099   PMID:21873635   PMID:21903422  
PMID:22615457   PMID:22863883   PMID:22939629   PMID:23383273   PMID:23956138   PMID:25179963   PMID:25331899   PMID:25609649   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26472760  
PMID:26871637   PMID:28514442   PMID:30833792   PMID:31073040   PMID:31091453   PMID:32694731   PMID:33187827   PMID:33277529   PMID:34079125  


Genomics

Comparative Map Data
COG5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7107,201,372 - 107,564,261 (-)EnsemblGRCh38hg38GRCh38
GRCh387107,201,372 - 107,564,361 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377106,841,817 - 107,204,365 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367106,630,227 - 106,991,721 (-)NCBINCBI36hg18NCBI36
Build 347106,436,941 - 106,798,436NCBI
Celera7101,647,486 - 102,010,231 (-)NCBI
Cytogenetic Map7q22.3NCBI
HuRef7101,202,742 - 101,565,584 (-)NCBIHuRef
CHM1_17106,776,168 - 107,138,910 (-)NCBICHM1_1
CRA_TCAGchr7v27106,203,276 - 106,566,048 (-)NCBI
Cog5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391231,704,848 - 31,987,629 (+)NCBIGRCm39mm39
GRCm39 Ensembl1231,704,868 - 31,987,629 (+)Ensembl
GRCm381231,654,819 - 31,937,630 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1231,654,869 - 31,937,630 (+)EnsemblGRCm38mm10GRCm38
MGSCv371232,339,734 - 32,622,495 (+)NCBIGRCm37mm9NCBIm37
Celera1233,104,592 - 33,391,997 (+)NCBICelera
Cytogenetic Map12A3NCBI
Cog5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2648,242,470 - 48,545,185 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl650,954,631 - 51,230,701 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0650,953,868 - 51,230,860 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0659,720,284 - 59,901,509 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4649,523,386 - 50,200,662 (+)NCBIRGSC3.4rn4RGSC3.4
Celera647,444,615 - 47,730,860 (+)NCBICelera
Cytogenetic Map6q16NCBI
Cog5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541011,653,058 - 11,920,718 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541011,651,587 - 11,920,866 (-)NCBIChiLan1.0ChiLan1.0
COG5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17111,905,285 - 112,267,038 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7111,934,557 - 112,266,513 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0799,180,197 - 99,543,437 (-)NCBIMhudiblu_PPA_v0panPan3
COG5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11813,039,889 - 13,338,958 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1813,039,889 - 13,338,538 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1812,684,143 - 12,988,210 (+)NCBI
ROS_Cfam_1.01813,311,561 - 13,609,473 (+)NCBI
UMICH_Zoey_3.11813,127,949 - 13,425,827 (+)NCBI
UNSW_CanFamBas_1.01813,048,114 - 13,346,001 (+)NCBI
UU_Cfam_GSD_1.01813,325,594 - 13,623,734 (+)NCBI
Cog5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511855,431,054 - 55,731,445 (+)NCBI
SpeTri2.0NW_00493647916,554,816 - 16,855,211 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COG5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9106,990,573 - 107,273,607 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19106,993,771 - 107,273,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29117,856,505 - 118,030,812 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COG5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12176,120,742 - 76,485,587 (-)NCBI
ChlSab1.1 Ensembl2176,122,849 - 76,479,500 (-)Ensembl
Vero_WHO_p1.0NW_02366604227,378,928 - 27,735,810 (+)NCBI
Cog5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473922,188,504 - 22,504,616 (+)NCBI

Position Markers
D7S496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,154,713 - 107,154,849UniSTSGRCh37
Build 367106,941,949 - 106,942,085RGDNCBI36
Celera7101,959,988 - 101,960,124RGD
Cytogenetic Map7q31UniSTS
HuRef7101,515,338 - 101,515,474UniSTS
CRA_TCAGchr7v27106,515,802 - 106,515,938UniSTS
Marshfield Genetic Map7119.81UniSTS
Marshfield Genetic Map7119.81RGD
Genethon Genetic Map7120.7UniSTS
deCODE Assembly Map7117.04UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,889,928 - 106,890,211UniSTSGRCh37
GRCh377106,889,826 - 106,889,902UniSTSGRCh37
Build 367106,677,164 - 106,677,447RGDNCBI36
Celera7101,695,124 - 101,695,200UniSTS
Celera7101,695,226 - 101,695,509RGD
Cytogenetic Map7q31UniSTS
HuRef7101,249,849 - 101,249,925UniSTS
HuRef7101,249,951 - 101,250,232UniSTS
CRA_TCAGchr7v27106,250,914 - 106,250,990UniSTS
CRA_TCAGchr7v27106,251,016 - 106,251,299UniSTS
Marshfield Genetic Map7119.81RGD
Genethon Genetic Map7120.7UniSTS
TNG Radiation Hybrid Map746941.0UniSTS
Stanford-G3 RH Map75223.0UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71089.7UniSTS
GeneMap99-G3 RH Map75223.0UniSTS
D7S2693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,164,649 - 107,164,750UniSTSGRCh37
Build 367106,951,885 - 106,951,986RGDNCBI36
Celera7101,969,924 - 101,970,025RGD
Cytogenetic Map7q31UniSTS
HuRef7101,525,274 - 101,525,375UniSTS
CRA_TCAGchr7v27106,525,738 - 106,525,839UniSTS
TNG Radiation Hybrid Map747044.0UniSTS
Stanford-G3 RH Map75251.0UniSTS
G36375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,865,521 - 106,865,673UniSTSGRCh37
Build 367106,652,757 - 106,652,909RGDNCBI36
Celera7101,670,818 - 101,670,970RGD
Cytogenetic Map7q31UniSTS
HuRef7101,226,074 - 101,226,226UniSTS
CRA_TCAGchr7v27106,226,608 - 106,226,760UniSTS
D7S1919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,944,962 - 106,945,043UniSTSGRCh37
Build 367106,732,198 - 106,732,279RGDNCBI36
Celera7101,750,239 - 101,750,320RGD
Cytogenetic Map7q31UniSTS
HuRef7101,304,998 - 101,305,079UniSTS
CRA_TCAGchr7v27106,306,051 - 106,306,132UniSTS
SHGC-105100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,125,003 - 107,125,274UniSTSGRCh37
Build 367106,912,239 - 106,912,510RGDNCBI36
Celera7101,930,278 - 101,930,549RGD
Cytogenetic Map7q31UniSTS
HuRef7101,485,628 - 101,485,899UniSTS
CRA_TCAGchr7v27106,486,092 - 106,486,363UniSTS
TNG Radiation Hybrid Map747007.0UniSTS
SGC34252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,245 - 106,842,373UniSTSGRCh37
Build 367106,629,481 - 106,629,609RGDNCBI36
Celera7101,647,542 - 101,647,670RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,202,798 - 101,202,926UniSTS
CRA_TCAGchr7v27106,203,332 - 106,203,460UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
Whitehead-RH Map7483.3UniSTS
G36379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,917,718 - 106,917,829UniSTSGRCh37
Build 367106,704,954 - 106,705,065RGDNCBI36
Celera7101,723,016 - 101,723,127RGD
Cytogenetic Map7q31UniSTS
HuRef7101,277,743 - 101,277,854UniSTS
CRA_TCAGchr7v27106,278,806 - 106,278,917UniSTS
G67880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,188,563 - 107,188,771UniSTSGRCh37
Build 367106,975,799 - 106,976,007RGDNCBI36
Celera7101,993,835 - 101,994,043RGD
Cytogenetic Map7q31UniSTS
HuRef7101,549,187 - 101,549,395UniSTS
CRA_TCAGchr7v27106,549,652 - 106,549,860UniSTS
GPR22_2242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,115,118 - 107,115,886UniSTSGRCh37
Build 367106,902,354 - 106,903,122RGDNCBI36
Celera7101,920,392 - 101,921,160RGD
HuRef7101,475,742 - 101,476,510UniSTS
CRA_TCAGchr7v27106,476,206 - 106,476,974UniSTS
GDB:1317530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,200,414 - 107,200,508UniSTSGRCh37
Build 367106,987,650 - 106,987,744RGDNCBI36
Celera7102,005,686 - 102,005,780RGD
Cytogenetic Map7q31UniSTS
HuRef7101,561,038 - 101,561,132UniSTS
CRA_TCAGchr7v27106,561,503 - 106,561,597UniSTS
WI-17975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,841,849 - 106,841,976UniSTSGRCh37
Build 367106,629,085 - 106,629,212RGDNCBI36
Celera7101,647,146 - 101,647,273RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q22-q31UniSTS
HuRef7101,202,402 - 101,202,529UniSTS
CRA_TCAGchr7v27106,202,936 - 106,203,063UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
Whitehead-RH Map7483.9UniSTS
NCBI RH Map71089.7UniSTS
G36377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,046,196 - 107,046,322UniSTSGRCh37
Build 367106,833,432 - 106,833,558RGDNCBI36
Celera7101,851,470 - 101,851,596RGD
Cytogenetic Map7q31UniSTS
HuRef7101,406,227 - 101,406,353UniSTS
CRA_TCAGchr7v27106,407,281 - 106,407,407UniSTS
GDB:1317192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,049,374 - 107,049,495UniSTSGRCh37
Build 367106,836,610 - 106,836,731RGDNCBI36
Celera7101,854,648 - 101,854,769RGD
Cytogenetic Map7q31UniSTS
HuRef7101,409,405 - 101,409,526UniSTS
CRA_TCAGchr7v27106,410,459 - 106,410,580UniSTS
D7S1556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,001,226 - 107,001,306UniSTSGRCh37
Build 367106,788,462 - 106,788,542RGDNCBI36
Celera7101,806,503 - 101,806,583RGD
Cytogenetic Map7q31UniSTS
CRA_TCAGchr7v27106,362,315 - 106,362,395UniSTS
RH16458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,371 - 106,842,500UniSTSGRCh37
Build 367106,629,607 - 106,629,736RGDNCBI36
Celera7101,647,668 - 101,647,797RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,202,924 - 101,203,053UniSTS
CRA_TCAGchr7v27106,203,458 - 106,203,587UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
NCBI RH Map71089.7UniSTS
G36374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,906,653 - 106,906,832UniSTSGRCh37
Build 367106,693,889 - 106,694,068RGDNCBI36
Celera7101,711,951 - 101,712,130RGD
Cytogenetic Map7q31UniSTS
HuRef7101,266,678 - 101,266,857UniSTS
CRA_TCAGchr7v27106,267,741 - 106,267,920UniSTS
STS-N63962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,843,226 - 106,843,470UniSTSGRCh37
Build 367106,630,462 - 106,630,706RGDNCBI36
Celera7101,648,523 - 101,648,767RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,203,779 - 101,204,023UniSTS
CRA_TCAGchr7v27106,204,313 - 106,204,557UniSTS
GeneMap99-GB4 RH Map7527.88UniSTS
GDB:1318342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,877,463 - 106,877,624UniSTSGRCh37
Build 367106,664,699 - 106,664,860RGDNCBI36
Celera7101,682,760 - 101,682,921RGD
Cytogenetic Map7q31UniSTS
HuRef7101,238,016 - 101,238,177UniSTS
CRA_TCAGchr7v27106,238,550 - 106,238,711UniSTS
D7S1409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,906,937 - 106,907,035UniSTSGRCh37
Build 367106,694,173 - 106,694,271RGDNCBI36
Celera7101,712,235 - 101,712,333RGD
Cytogenetic Map7q31UniSTS
HuRef7101,266,962 - 101,267,060UniSTS
CRA_TCAGchr7v27106,268,025 - 106,268,123UniSTS
RH12237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,750 - 106,842,875UniSTSGRCh37
Build 367106,629,986 - 106,630,111RGDNCBI36
Celera7101,648,047 - 101,648,172RGD
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map7q31UniSTS
HuRef7101,203,303 - 101,203,428UniSTS
CRA_TCAGchr7v27106,203,837 - 106,203,962UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
G36376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,197,083 - 107,197,193UniSTSGRCh37
Build 367106,984,319 - 106,984,429RGDNCBI36
Celera7102,002,355 - 102,002,465RGD
Cytogenetic Map7q31UniSTS
HuRef7101,557,707 - 101,557,817UniSTS
CRA_TCAGchr7v27106,558,172 - 106,558,282UniSTS
WI-16200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,848,357 - 106,848,508UniSTSGRCh37
Build 367106,635,593 - 106,635,744RGDNCBI36
Celera7101,653,654 - 101,653,805RGD
Cytogenetic Map7q31UniSTS
HuRef7101,208,910 - 101,209,061UniSTS
CRA_TCAGchr7v27106,209,444 - 106,209,595UniSTS
GeneMap99-GB4 RH Map7528.69UniSTS
Whitehead-RH Map7484.9UniSTS
NCBI RH Map71089.7UniSTS
G73140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377106,842,139 - 106,842,560UniSTSGRCh37
Build 367106,629,375 - 106,629,796RGDNCBI36
Celera7101,647,436 - 101,647,857RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q22-q31UniSTS
HuRef7101,202,692 - 101,203,113UniSTS
CRA_TCAGchr7v27106,203,226 - 106,203,647UniSTS
D7S2420  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q31UniSTS
Marshfield Genetic Map7119.81UniSTS
Genethon Genetic Map7120.7UniSTS
TNG Radiation Hybrid Map746941.0UniSTS
Stanford-G3 RH Map75223.0UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71089.7UniSTS
GeneMap99-G3 RH Map75223.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2820
Count of miRNA genes:1195
Interacting mature miRNAs:1472
Transcripts:ENST00000297135, ENST00000347053, ENST00000393603, ENST00000462342, ENST00000464542, ENST00000468350, ENST00000469503, ENST00000475638, ENST00000484237, ENST00000605888
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1046 1625 987 191 832 53 3111 521 1118 198 1286 1425 151 789 1880 3
Low 1390 1350 736 431 1107 411 1245 1670 2597 219 167 183 21 1 415 908 1 1
Below cutoff 14 3 1 10 1 4 15 2 3 4 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC255406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU117533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF979561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI545441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI597200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB165152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297135   ⟹   ENSP00000297135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,202,564 - 107,564,514 (-)Ensembl
RefSeq Acc Id: ENST00000347053   ⟹   ENSP00000334703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,201,555 - 107,564,040 (-)Ensembl
RefSeq Acc Id: ENST00000393603   ⟹   ENSP00000377228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,207,848 - 107,564,261 (-)Ensembl
RefSeq Acc Id: ENST00000462342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,236,655 - 107,258,620 (-)Ensembl
RefSeq Acc Id: ENST00000464542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,210,455 - 107,253,247 (-)Ensembl
RefSeq Acc Id: ENST00000468350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,236,555 - 107,258,620 (-)Ensembl
RefSeq Acc Id: ENST00000469503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,547,998 - 107,548,332 (-)Ensembl
RefSeq Acc Id: ENST00000475638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,372,595 - 107,549,259 (-)Ensembl
RefSeq Acc Id: ENST00000484237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,362,068 - 107,480,942 (-)Ensembl
RefSeq Acc Id: ENST00000605888   ⟹   ENSP00000476238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,527,237 - 107,563,934 (-)Ensembl
RefSeq Acc Id: NM_001161520   ⟹   NP_001154992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,206,635 - 107,563,920 (-)NCBI
GRCh377106,842,189 - 107,204,959 (-)ENTREZGENE
HuRef7101,202,742 - 101,565,584 (-)ENTREZGENE
CHM1_17106,782,277 - 107,138,910 (-)NCBI
CRA_TCAGchr7v27106,203,276 - 106,566,048 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001379511   ⟹   NP_001366440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
RefSeq Acc Id: NM_001379512   ⟹   NP_001366441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
RefSeq Acc Id: NM_001379513   ⟹   NP_001366442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
RefSeq Acc Id: NM_001379514   ⟹   NP_001366443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
RefSeq Acc Id: NM_001379515   ⟹   NP_001366444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
RefSeq Acc Id: NM_001379516   ⟹   NP_001366445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
RefSeq Acc Id: NM_006348   ⟹   NP_006339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
GRCh377106,842,189 - 107,204,959 (-)ENTREZGENE
Build 367106,630,227 - 106,991,721 (-)NCBI Archive
HuRef7101,202,742 - 101,565,584 (-)ENTREZGENE
CHM1_17106,776,168 - 107,138,910 (-)NCBI
CRA_TCAGchr7v27106,203,276 - 106,566,048 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_181733   ⟹   NP_859422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,201,372 - 107,563,920 (-)NCBI
GRCh377106,842,189 - 107,204,959 (-)ENTREZGENE
Build 367106,630,227 - 106,991,721 (-)NCBI Archive
HuRef7101,202,742 - 101,565,584 (-)ENTREZGENE
CHM1_17106,776,168 - 107,138,910 (-)NCBI
CRA_TCAGchr7v27106,203,276 - 106,566,048 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_024446634   ⟹   XP_024302402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,258,309 - 107,564,361 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_859422   ⟸   NM_181733
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_006339   ⟸   NM_006348
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001154992   ⟸   NM_001161520
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_024302402   ⟸   XM_024446634
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001366445   ⟸   NM_001379516
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001366444   ⟸   NM_001379515
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001366440   ⟸   NM_001379511
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001366441   ⟸   NM_001379512
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001366443   ⟸   NM_001379514
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001366442   ⟸   NM_001379513
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000334703   ⟸   ENST00000347053
RefSeq Acc Id: ENSP00000297135   ⟸   ENST00000297135
RefSeq Acc Id: ENSP00000377228   ⟸   ENST00000393603
RefSeq Acc Id: ENSP00000476238   ⟸   ENST00000605888

Promoters
RGD ID:6805400
Promoter ID:HG_KWN:59217
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat
Transcripts:ENST00000393603,   NM_001161520,   NM_006348,   NM_181733
Position:
Human AssemblyChrPosition (strand)Source
Build 367106,991,711 - 106,992,592 (-)MPROMDB
RGD ID:7211621
Promoter ID:EPDNEW_H11557
Type:initiation region
Name:COG5_2
Description:component of oligomeric golgi complex 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11558  EPDNEW_H11562  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,564,340 - 107,564,400EPDNEW
RGD ID:7211625
Promoter ID:EPDNEW_H11558
Type:initiation region
Name:COG5_1
Description:component of oligomeric golgi complex 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11557  EPDNEW_H11562  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,564,495 - 107,564,555EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000764679]|not provided [RCV000519824] Chr7:107324470 [GRCh38]
Chr7:106964915 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1576-15A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000004208] Chr7:107258398 [GRCh38]
Chr7:106898843 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.3(COG5):c.1201+7525A>G single nucleotide variant Lung cancer [RCV000097393] Chr7:107316915 [GRCh38]
Chr7:106957360 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.3(COG5):c.510+779A>T single nucleotide variant Lung cancer [RCV000097394] Chr7:107547332 [GRCh38]
Chr7:107187777 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.3(COG5):c.188-2016C>T single nucleotide variant Lung cancer [RCV000097395] Chr7:107560131 [GRCh38]
Chr7:107200576 [GRCh37]
Chr7:7q22.3
uncertain significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1 copy number loss See cases [RCV000054158] Chr7:106261939..111228036 [GRCh38]
Chr7:105902385..110868092 [GRCh37]
Chr7:105689621..110655328 [NCBI36]
Chr7:7q22.3-31.1
pathogenic
NM_006348.3(COG5):c.2203C>T (p.Pro735Ser) single nucleotide variant Malignant melanoma [RCV000067570] Chr7:107230673 [GRCh38]
Chr7:106871118 [GRCh37]
Chr7:106658354 [NCBI36]
Chr7:7q22.3
not provided
NM_006348.3(COG5):c.1804C>T (p.Pro602Ser) single nucleotide variant Malignant melanoma [RCV000061521] Chr7:107256770 [GRCh38]
Chr7:106897215 [GRCh37]
Chr7:106684451 [NCBI36]
Chr7:7q22.3
not provided
NM_006348.3(COG5):c.1568G>A (p.Ser523Asn) single nucleotide variant Malignant melanoma [RCV000061522] Chr7:107283571 [GRCh38]
Chr7:106924016 [GRCh37]
Chr7:106711252 [NCBI36]
Chr7:7q22.3
not provided
NM_006348.5(COG5):c.2104G>A (p.Val702Met) single nucleotide variant not provided [RCV000081392] Chr7:107230679 [GRCh38]
Chr7:106871124 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.895T>C (p.Phe299Leu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000377238]|not specified [RCV000081393] Chr7:107362361 [GRCh38]
Chr7:107002806 [GRCh37]
Chr7:7q22.3
benign
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001083280]|not provided [RCV000224186]|not specified [RCV000174352] Chr7:107298208 [GRCh38]
Chr7:106938653 [GRCh37]
Chr7:7q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006348.5(COG5):c.1829C>A (p.Thr610Asn) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001331570] Chr7:107248420 [GRCh38]
Chr7:106888865 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.137C>T (p.Thr46Ile) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001302828] Chr7:107558073 [GRCh38]
Chr7:107198518 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1723G>T (p.Glu575Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001331569] Chr7:107256758 [GRCh38]
Chr7:106897203 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.739A>G (p.Ser247Gly) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001331571] Chr7:107372691 [GRCh38]
Chr7:107013136 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1096A>G (p.Met366Val) single nucleotide variant not provided [RCV000174116] Chr7:107324452 [GRCh38]
Chr7:106964897 [GRCh37]
Chr7:7q22.3
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1 copy number loss See cases [RCV000142628] Chr7:105575647..107949294 [GRCh38]
Chr7:105216094..107589739 [GRCh37]
Chr7:105003330..107376975 [NCBI36]
Chr7:7q22.3-31.1
uncertain significance
NM_006348.5(COG5):c.2092A>G (p.Met698Val) single nucleotide variant not provided [RCV000175454] Chr7:107230691 [GRCh38]
Chr7:106871136 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.15C>G (p.Gly5=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164486]|not provided [RCV000153069] Chr7:107563882 [GRCh38]
Chr7:107204327 [GRCh37]
Chr7:7q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001089395]|not provided [RCV000296921] Chr7:107324511 [GRCh38]
Chr7:106964956 [GRCh37]
Chr7:7q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.247C>T (p.His83Tyr) single nucleotide variant not provided [RCV000518866] Chr7:107554330 [GRCh38]
Chr7:107194775 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.876T>G (p.Thr292=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000576157]|not specified [RCV000423492] Chr7:107362380 [GRCh38]
Chr7:107002825 [GRCh37]
Chr7:7q22.3
benign|likely benign|uncertain significance
NM_006348.5(COG5):c.*544del deletion Congenital disorder of glycosylation [RCV000333352] Chr7:107202972 [GRCh38]
Chr7:106843417 [GRCh37]
Chr7:7q22.3
likely benign
NM_012257.4(HBP1):c.*974G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000267253] Chr7:107202405 [GRCh38]
Chr7:106842850 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.735T>A (p.Ile245=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000953925]|not specified [RCV000426385] Chr7:107372695 [GRCh38]
Chr7:107013140 [GRCh37]
Chr7:7q22.3
benign|likely benign|uncertain significance
NM_006348.5(COG5):c.451A>G (p.Ile151Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000873348]|not specified [RCV000439520] Chr7:107527324 [GRCh38]
Chr7:107167769 [GRCh37]
Chr7:7q22.3
benign|likely benign|uncertain significance
NM_181581.3(DUS4L):c.-275C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000268331] Chr7:107564045 [GRCh38]
Chr7:107204490 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-325C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000322536]|not specified [RCV000417445] Chr7:107563995 [GRCh38]
Chr7:107204440 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000864412]|not specified [RCV000431529] Chr7:107298165 [GRCh38]
Chr7:106938610 [GRCh37]
Chr7:7q22.3
benign|likely benign|uncertain significance
NM_006348.5(COG5):c.2168+9G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000305722] Chr7:107230606 [GRCh38]
Chr7:106871051 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*828C>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000327274] Chr7:107202688 [GRCh38]
Chr7:106843133 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000288844] Chr7:107372662 [GRCh38]
Chr7:107013107 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-111+167G>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000351769] Chr7:107564376 [GRCh38]
Chr7:107204821 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000340456]|not provided [RCV000872822] Chr7:107203605 [GRCh38]
Chr7:106844050 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000360415]|not provided [RCV000523029] Chr7:107236518 [GRCh38]
Chr7:106876963 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000330119] Chr7:107283697 [GRCh38]
Chr7:106924142 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.538+10T>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000309480] Chr7:107527227 [GRCh38]
Chr7:107167672 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1827C>T (p.Ile609=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000576208]|not specified [RCV000431499] Chr7:107248422 [GRCh38]
Chr7:106888867 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.1689T>G (p.Val563=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000275054]|not specified [RCV000445046] Chr7:107256792 [GRCh38]
Chr7:106897237 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.*606A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000292362] Chr7:107202910 [GRCh38]
Chr7:106843355 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_012257.4(HBP1):c.*365T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000356214] Chr7:107201796 [GRCh38]
Chr7:106842241 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1262A>G (p.His421Arg) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001079771]|not provided [RCV000514707]|not specified [RCV000426458] Chr7:107298193 [GRCh38]
Chr7:106938638 [GRCh37]
Chr7:7q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.67G>C (p.Ala23Pro) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000357505] Chr7:107563830 [GRCh38]
Chr7:107204275 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.347+4C>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000405017]|not specified [RCV000422064] Chr7:107548274 [GRCh38]
Chr7:107188719 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.2009T>C (p.Val670Ala) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000406519] Chr7:107236532 [GRCh38]
Chr7:106876977 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.117C>T (p.Asn39=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000260964] Chr7:107558093 [GRCh38]
Chr7:107198538 [GRCh37]
Chr7:7q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.*8A>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000408242] Chr7:107203508 [GRCh38]
Chr7:106843953 [GRCh37]
Chr7:7q22.3
uncertain significance
NG_028095.1(COG5):g.5589G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000871424]|not specified [RCV000435245] Chr7:107563926 [GRCh38]
Chr7:107204371 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.*612G>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000386458] Chr7:107202904 [GRCh38]
Chr7:106843349 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_181581.3(DUS4L):c.-111+131C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000386531] Chr7:107564340 [GRCh38]
Chr7:107204785 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.*293T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000279475] Chr7:107203223 [GRCh38]
Chr7:106843668 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.264A>G (p.Ala88=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000896454]|not specified [RCV000430963] Chr7:107554313 [GRCh38]
Chr7:107194758 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.94+3A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000316248] Chr7:107563800 [GRCh38]
Chr7:107204245 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000280758] Chr7:107203550 [GRCh38]
Chr7:106843995 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1257A>G (p.Leu419=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000550357]|not specified [RCV000424829] Chr7:107298198 [GRCh38]
Chr7:106938643 [GRCh37]
Chr7:7q22.3
benign|uncertain significance
NM_006348.5(COG5):c.1776T>C (p.Ala592=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000364992]|not specified [RCV000431642] Chr7:107248473 [GRCh38]
Chr7:106888918 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg) single nucleotide variant Congenital disorder of glycosylation [RCV000390751] Chr7:107210574 [GRCh38]
Chr7:106851019 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000887716]|not provided [RCV001508581] Chr7:107298244 [GRCh38]
Chr7:106938689 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012257.4(HBP1):c.*448C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000266243] Chr7:107201879 [GRCh38]
Chr7:106842324 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1000A>G (p.Ile334Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000318026]|not specified [RCV000420991] Chr7:107362059 [GRCh38]
Chr7:107002504 [GRCh37]
Chr7:7q22.3
benign|likely benign
NM_006348.5(COG5):c.795C>T (p.Asp265=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000871925]|not specified [RCV000608208] Chr7:107372635 [GRCh38]
Chr7:107013080 [GRCh37]
Chr7:7q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181581.3(DUS4L):c.-110-94C>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000393634] Chr7:107564494 [GRCh38]
Chr7:107204939 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*986G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000272250] Chr7:107202530 [GRCh38]
Chr7:106842975 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_012257.4(HBP1):c.*809_*812dup duplication Congenital disorder of glycosylation [RCV000361846] Chr7:107202238..107202239 [GRCh38]
Chr7:106842683..106842684 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.670-9T>G single nucleotide variant not provided [RCV000597618] Chr7:107372769 [GRCh38]
Chr7:107013214 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_012257.4(HBP1):c.*601A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000302487] Chr7:107202032 [GRCh38]
Chr7:106842477 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_012257.4(HBP1):c.*1088C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000380833] Chr7:107202519 [GRCh38]
Chr7:106842964 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-111+147G>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000292148] Chr7:107564356 [GRCh38]
Chr7:107204801 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-111+72G>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000346001] Chr7:107564281 [GRCh38]
Chr7:107204726 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-111+60_-111+61del deletion Congenital disorder of glycosylation [RCV000382803] Chr7:107564269..107564270 [GRCh38]
Chr7:107204714..107204715 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.669+10A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000404337] Chr7:107412492 [GRCh38]
Chr7:107052937 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*247T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000334607] Chr7:107203269 [GRCh38]
Chr7:106843714 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*468C>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000387769] Chr7:107203048 [GRCh38]
Chr7:106843493 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.185C>T (p.Ala62Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000369774] Chr7:107558025 [GRCh38]
Chr7:107198470 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.963A>G (p.Gln321=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000529600] Chr7:107362096 [GRCh38]
Chr7:107002541 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-162C>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000323499] Chr7:107564158 [GRCh38]
Chr7:107204603 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-111+71G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000288470] Chr7:107564280 [GRCh38]
Chr7:107204725 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_012257.4(HBP1):c.*1087_*1088insAA insertion Congenital disorder of glycosylation [RCV000327072] Chr7:107202518..107202519 [GRCh38]
Chr7:106842963..106842964 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.836-11C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000342624] Chr7:107362431 [GRCh38]
Chr7:107002876 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-301T>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000377134] Chr7:107564019 [GRCh38]
Chr7:107204464 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1789C>T (p.Leu597Phe) single nucleotide variant not provided [RCV000730374] Chr7:107248460 [GRCh38]
Chr7:106888905 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1416G>A (p.Pro472=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001089414]|not provided [RCV000594436] Chr7:107283630 [GRCh38]
Chr7:106924075 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006348.5(COG5):c.2124A>G (p.Arg708=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000872845]|not specified [RCV000441293] Chr7:107230659 [GRCh38]
Chr7:106871104 [GRCh37]
Chr7:7q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_181581.3(DUS4L):c.-323G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164488]|not specified [RCV000434447] Chr7:107563997 [GRCh38]
Chr7:107204442 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.539-17G>A single nucleotide variant not specified [RCV000427757] Chr7:107412649 [GRCh38]
Chr7:107053094 [GRCh37]
Chr7:7q22.3
benign
NM_006348.5(COG5):c.927T>C (p.His309=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000872594]|not specified [RCV000438327] Chr7:107362329 [GRCh38]
Chr7:107002774 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.1749+7G>A single nucleotide variant not specified [RCV000435346] Chr7:107256725 [GRCh38]
Chr7:106897170 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.2433A>T (p.Ala811=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000902490]|not specified [RCV000435371] Chr7:107203573 [GRCh38]
Chr7:106844018 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.1302G>A (p.Lys434=) single nucleotide variant not provided [RCV000894483]|not specified [RCV000419078] Chr7:107298153 [GRCh38]
Chr7:106938598 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.234+16T>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001520066]|not specified [RCV000439277] Chr7:107557960 [GRCh38]
Chr7:107198405 [GRCh37]
Chr7:7q22.3
benign
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000490350]|not specified [RCV000443421] Chr7:107248423 [GRCh38]
Chr7:106888868 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.293-18A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001520065]|not specified [RCV000440324] Chr7:107548350 [GRCh38]
Chr7:107188795 [GRCh37]
Chr7:7q22.3
benign
NM_006348.5(COG5):c.1750-14T>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162316]|not specified [RCV000444057] Chr7:107248513 [GRCh38]
Chr7:106888958 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.949-18A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001516968]|not specified [RCV000433565] Chr7:107362128 [GRCh38]
Chr7:107002573 [GRCh37]
Chr7:7q22.3
benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006348.5(COG5):c.1415dup (p.Gly474fs) duplication Congenital disorder of glycosylation type 2i [RCV000496118] Chr7:107283630..107283631 [GRCh38]
Chr7:106924075..106924076 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000496207] Chr7:107211163 [GRCh38]
Chr7:106851608 [GRCh37]
Chr7:7q22.3
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006348.5(COG5):c.314C>T (p.Thr105Met) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000576197] Chr7:107548311 [GRCh38]
Chr7:107188756 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000576253] Chr7:107248493 [GRCh38]
Chr7:106888938 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-281G>T single nucleotide variant not specified [RCV000610533] Chr7:107564039 [GRCh38]
Chr7:107204484 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.2112A>T (p.Pro704=) single nucleotide variant not specified [RCV000610722] Chr7:107230671 [GRCh38]
Chr7:106871116 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.211T>C (p.Leu71=) single nucleotide variant not specified [RCV000608560] Chr7:107557999 [GRCh38]
Chr7:107198444 [GRCh37]
Chr7:7q22.3
likely benign
NM_181581.3(DUS4L):c.-297C>A single nucleotide variant not specified [RCV000614245] Chr7:107564023 [GRCh38]
Chr7:107204468 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.669+18_669+19del deletion Congenital disorder of glycosylation type 2i [RCV001520064]|not specified [RCV000609263] Chr7:107412483..107412484 [GRCh38]
Chr7:107052928..107052929 [GRCh37]
Chr7:7q22.3
benign
NM_006348.5(COG5):c.1725G>A (p.Glu575=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162317]|not specified [RCV000607248] Chr7:107256756 [GRCh38]
Chr7:106897201 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000648353] Chr7:107548327 [GRCh38]
Chr7:107188772 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006348.5(COG5):c.50G>T (p.Gly17Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000648354] Chr7:107563847 [GRCh38]
Chr7:107204292 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity
NM_006348.5(COG5):c.96del (p.Cys33Valfs) deletion Congenital disorder of glycosylation type 2i [RCV000704542]|not provided [RCV000627437] Chr7:107558114 [GRCh38]
Chr7:107198559 [GRCh37]
Chr7:7q22.3
pathogenic
GRCh37/hg19 7q22.3(chr7:107156793-107222725)x1 copy number loss not provided [RCV000682769] Chr7:107156793..107222725 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000700232] Chr7:107210554 [GRCh38]
Chr7:106850999 [GRCh37]
Chr7:7q22.3
uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_006348.5(COG5):c.551A>G (p.Gln184Arg) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000688825] Chr7:107412620 [GRCh38]
Chr7:107053065 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000723343] Chr7:107281340 [GRCh38]
Chr7:106921785 [GRCh37]
Chr7:7q22.3
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006348.5(COG5):c.1027-5C>T single nucleotide variant not provided [RCV000963352] Chr7:107324526 [GRCh38]
Chr7:106964971 [GRCh37]
Chr7:7q22.3
likely benign
NM_181581.3(DUS4L):c.-332A>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164487] Chr7:107563988 [GRCh38]
Chr7:107204433 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1683A>G (p.Thr561=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000951042] Chr7:107258276 [GRCh38]
Chr7:106898721 [GRCh37]
Chr7:7q22.3
benign
NM_006348.5(COG5):c.1160G>A (p.Arg387His) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164384]|not provided [RCV000876483] Chr7:107298295 [GRCh38]
Chr7:106938740 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.60G>A (p.Ala20=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000929610] Chr7:107563837 [GRCh38]
Chr7:107204282 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.2232G>A (p.Pro744=) single nucleotide variant not provided [RCV000865136] Chr7:107211162 [GRCh38]
Chr7:106851607 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.1027-10T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001469778]|not provided [RCV000944479] Chr7:107324531 [GRCh38]
Chr7:106964976 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.1266G>C (p.Met422Ile) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001071819] Chr7:107298189 [GRCh38]
Chr7:106938634 [GRCh37]
Chr7:7q22.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000810948] Chr7:107236638 [GRCh38]
Chr7:106877083 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) indel Congenital disorder of glycosylation type 2i [RCV000778807] Chr7:107412558..107412560 [GRCh38]
Chr7:107053003..107053005 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.81del (p.Glu27fs) deletion Congenital disorder of glycosylation type 2i [RCV000778808] Chr7:107563816 [GRCh38]
Chr7:107204261 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2487G>A (p.Gln829=) single nucleotide variant not provided [RCV000901461] Chr7:107203519 [GRCh38]
Chr7:106843964 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.486G>A (p.Leu162=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001471510]|not provided [RCV000893306] Chr7:107527289 [GRCh38]
Chr7:107167734 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.2169-6G>A single nucleotide variant not provided [RCV000898252] Chr7:107211231 [GRCh38]
Chr7:106851676 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.959T>C (p.Leu320Pro) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000984502] Chr7:107362100 [GRCh38]
Chr7:107002545 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.-1C>T single nucleotide variant not provided [RCV000900760] Chr7:107563897 [GRCh38]
Chr7:107204342 [GRCh37]
Chr7:7q22.3
likely benign
GRCh37/hg19 7q22.3(chr7:106596321-106910550)x1 copy number loss not provided [RCV001005990] Chr7:106596321..106910550 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.141T>C (p.Tyr47=) single nucleotide variant not provided [RCV000839154] Chr7:107558069 [GRCh38]
Chr7:107198514 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000960565] Chr7:107372640 [GRCh38]
Chr7:107013085 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity
NM_006348.5(COG5):c.538+8T>G single nucleotide variant not provided [RCV000960581] Chr7:107527229 [GRCh38]
Chr7:107167674 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.184G>A (p.Ala62Thr) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000801535] Chr7:107558026 [GRCh38]
Chr7:107198471 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1159del (p.Arg387fs) deletion Congenital disorder of glycosylation type 2i [RCV000806615] Chr7:107298296 [GRCh38]
Chr7:106938741 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.907A>G (p.Met303Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000812024] Chr7:107362349 [GRCh38]
Chr7:107002794 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2088A>C (p.Ala696=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001434936]|not provided [RCV000841538] Chr7:107236453 [GRCh38]
Chr7:106876898 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.487C>T (p.Gln163Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000784979] Chr7:107527288 [GRCh38]
Chr7:107167733 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.1026+4T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000803329] Chr7:107362029 [GRCh38]
Chr7:107002474 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2271C>T (p.Pro757=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001078595]|not provided [RCV000840742] Chr7:107211123 [GRCh38]
Chr7:106851568 [GRCh37]
Chr7:7q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006348.5(COG5):c.*1340A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164165] Chr7:107202176 [GRCh38]
Chr7:106842621 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*220G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164264] Chr7:107203296 [GRCh38]
Chr7:106843741 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*165C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164265] Chr7:107203351 [GRCh38]
Chr7:106843796 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*89A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164268] Chr7:107203427 [GRCh38]
Chr7:106843872 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.948+12A>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164385] Chr7:107362296 [GRCh38]
Chr7:107002741 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-349_-348insGGCCC insertion Congenital disorder of glycosylation type 2i [RCV000791056] Chr7:107563971..107563972 [GRCh38]
Chr7:107204416..107204417 [GRCh37]
Chr7:7q22.3
likely pathogenic
NM_006348.5(COG5):c.1686+7A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV000897908] Chr7:107258266 [GRCh38]
Chr7:106898711 [GRCh37]
Chr7:7q22.3
likely benign|conflicting interpretations of pathogenicity
NM_006348.5(COG5):c.216C>T (p.Asp72=) single nucleotide variant not provided [RCV000919522] Chr7:107557994 [GRCh38]
Chr7:107198439 [GRCh37]
Chr7:7q22.3
likely benign
NM_181581.3(DUS4L):c.-339_-338del deletion Congenital disorder of glycosylation type 2i [RCV001037145]|not provided [RCV001009134] Chr7:107563980..107563981 [GRCh38]
Chr7:107204425..107204426 [GRCh37]
Chr7:7q22.3
pathogenic|likely pathogenic
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32
pathogenic
NM_006348.5(COG5):c.*162T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164266] Chr7:107203354 [GRCh38]
Chr7:106843799 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*52G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164269] Chr7:107203464 [GRCh38]
Chr7:106843909 [GRCh37]
Chr7:7q22.3
uncertain significance
GRCh37/hg19 7q22.3(chr7:106868531-106927676)x1 copy number loss not provided [RCV000847740] Chr7:106868531..106927676 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.154A>G (p.Ile52Val) single nucleotide variant not provided [RCV000998889] Chr7:107558056 [GRCh38]
Chr7:107198501 [GRCh37]
Chr7:7q22.3
uncertain significance
GRCh37/hg19 7q22.3(chr7:107014544-107115209)x1 copy number loss not provided [RCV000848933] Chr7:107014544..107115209 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*437A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162215] Chr7:107203079 [GRCh38]
Chr7:106843524 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.292+14A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162419] Chr7:107554271 [GRCh38]
Chr7:107194716 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*306C>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162217] Chr7:107203210 [GRCh38]
Chr7:106843655 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1853+8C>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001195726] Chr7:107248388 [GRCh38]
Chr7:106888833 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001045552] Chr7:107211182 [GRCh38]
Chr7:106851627 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001200899] Chr7:107203581 [GRCh38]
Chr7:106844026 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.948+5A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001241558] Chr7:107362303 [GRCh38]
Chr7:107002748 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.220G>T (p.Glu74Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001241719] Chr7:107557990 [GRCh38]
Chr7:107198435 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159356] Chr7:107210584 [GRCh38]
Chr7:106851029 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2400_2403dup (p.Val802fs) duplication not provided [RCV001008641] Chr7:107203602..107203603 [GRCh38]
Chr7:106844047..106844048 [GRCh37]
Chr7:7q22.3
likely pathogenic
NM_006348.5(COG5):c.*237T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164263] Chr7:107203279 [GRCh38]
Chr7:106843724 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2481T>C (p.Ala827=) single nucleotide variant not provided [RCV000919327] Chr7:107203525 [GRCh38]
Chr7:106843970 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.646C>T (p.Leu216=) single nucleotide variant not provided [RCV000938723] Chr7:107412525 [GRCh38]
Chr7:107052970 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.*550A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162213] Chr7:107202966 [GRCh38]
Chr7:106843411 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*1426A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164164] Chr7:107202090 [GRCh38]
Chr7:106842535 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*157T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164267] Chr7:107203359 [GRCh38]
Chr7:106843804 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.37C>T (p.Leu13Phe) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164484] Chr7:107563860 [GRCh38]
Chr7:107204305 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.836-9C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159449] Chr7:107362429 [GRCh38]
Chr7:107002874 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*678T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160624] Chr7:107202838 [GRCh38]
Chr7:106843283 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160724] Chr7:107236635 [GRCh38]
Chr7:106877080 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.390C>T (p.Ala130=) single nucleotide variant not provided [RCV000912026] Chr7:107548138 [GRCh38]
Chr7:107188583 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.2433A>C (p.Ala811=) single nucleotide variant not provided [RCV000912605] Chr7:107203573 [GRCh38]
Chr7:106844018 [GRCh37]
Chr7:7q22.3
likely benign
GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857) copy number loss See cases [RCV000993745] Chr7:104506008..107408857 [GRCh37]
Chr7:7q22.3-31.1
pathogenic
NM_006348.5(COG5):c.268G>A (p.Ala90Thr) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162420] Chr7:107554309 [GRCh38]
Chr7:107194754 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*867A>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159265] Chr7:107202649 [GRCh38]
Chr7:106843094 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1901T>C (p.Met634Thr) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160725] Chr7:107236640 [GRCh38]
Chr7:106877085 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1900A>T (p.Met634Leu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160726] Chr7:107236641 [GRCh38]
Chr7:106877086 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160727] Chr7:107248469 [GRCh38]
Chr7:106888914 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.376A>C (p.Asn126His) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160820] Chr7:107548152 [GRCh38]
Chr7:107188597 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*862C>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159267] Chr7:107202654 [GRCh38]
Chr7:106843099 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159357] Chr7:107236511 [GRCh38]
Chr7:106876956 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*634T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160625] Chr7:107202882 [GRCh38]
Chr7:106843327 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-275C>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159554] Chr7:107564045 [GRCh38]
Chr7:107204490 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-186G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159555] Chr7:107564134 [GRCh38]
Chr7:107204579 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_181581.3(DUS4L):c.-111+78G>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159556] Chr7:107564287 [GRCh38]
Chr7:107204732 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.*612G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160628] Chr7:107202904 [GRCh38]
Chr7:106843349 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.454T>C (p.Leu152=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160819]|not provided [RCV001253827] Chr7:107527321 [GRCh38]
Chr7:107167766 [GRCh37]
Chr7:7q22.3
likely benign|uncertain significance
NM_006348.5(COG5):c.1314-3C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001205968] Chr7:107283735 [GRCh38]
Chr7:106924180 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.70A>G (p.Thr24Ala) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001056307] Chr7:107563827 [GRCh38]
Chr7:107204272 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*1742G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164161] Chr7:107201774 [GRCh38]
Chr7:106842219 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*1468G>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164162] Chr7:107202048 [GRCh38]
Chr7:106842493 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*1449G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164163] Chr7:107202067 [GRCh38]
Chr7:106842512 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.17G>A (p.Gly6Asp) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001164485] Chr7:107563880 [GRCh38]
Chr7:107204325 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.3:c.189del deletion Congenital disorder of glycosylation type 2i [RCV001200900]   pathogenic
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup) microsatellite Congenital disorder of glycosylation type 2i [RCV001200901] Chr7:107211146..107211147 [GRCh38]
Chr7:106851591..106851592 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.237del (p.Val80fs) deletion Congenital disorder of glycosylation type 2i [RCV001200903] Chr7:107554340 [GRCh38]
Chr7:107194785 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001200905] Chr7:107236557 [GRCh38]
Chr7:106877002 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001200904] Chr7:107298258 [GRCh38]
Chr7:106938703 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.2T>G (p.Met1Arg) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001200898] Chr7:107563895 [GRCh38]
Chr7:107204340 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.*1243T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159264] Chr7:107202273 [GRCh38]
Chr7:106842718 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*865C>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159266] Chr7:107202651 [GRCh38]
Chr7:106843096 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.858G>A (p.Met286Ile) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001159448] Chr7:107362398 [GRCh38]
Chr7:107002843 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu) indel Congenital disorder of glycosylation type 2i [RCV001200897] Chr7:107527308..107527312 [GRCh38]
Chr7:107167753..107167757 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.1687G>T (p.Val563Phe) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001200902] Chr7:107256794 [GRCh38]
Chr7:106897239 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.*622C>T single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160626] Chr7:107202894 [GRCh38]
Chr7:106843339 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*617A>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160627] Chr7:107202899 [GRCh38]
Chr7:106843344 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*589G>A single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001160629] Chr7:107202927 [GRCh38]
Chr7:106843372 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001055968] Chr7:107236503 [GRCh38]
Chr7:106876948 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*498T>G single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162214] Chr7:107203018 [GRCh38]
Chr7:106843463 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.*409T>C single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162216] Chr7:107203107 [GRCh38]
Chr7:106843552 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001162318] Chr7:107298153 [GRCh38]
Chr7:106938598 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.616C>T (p.Leu206Phe) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001334541] Chr7:107412555 [GRCh38]
Chr7:107053000 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1430C>G (p.Pro477Arg) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001350351] Chr7:107283616 [GRCh38]
Chr7:106924061 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.646C>G (p.Leu216Val) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001327749] Chr7:107412525 [GRCh38]
Chr7:107052970 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.707A>G (p.Tyr236Cys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001306853] Chr7:107372723 [GRCh38]
Chr7:107013168 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001334540] Chr7:107283665 [GRCh38]
Chr7:106924110 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.1832T>G (p.Met611Arg) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001341152] Chr7:107248417 [GRCh38]
Chr7:106888862 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1038G>A (p.Pro346=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001391851] Chr7:107324510 [GRCh38]
Chr7:106964955 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.847C>T (p.Arg283Ter) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001331572] Chr7:107362409 [GRCh38]
Chr7:107002854 [GRCh37]
Chr7:7q22.3
pathogenic
NM_006348.5(COG5):c.47G>A (p.Arg16Gln) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001373484] Chr7:107563850 [GRCh38]
Chr7:107204295 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.361A>C (p.Ile121Leu) single nucleotide variant not provided [RCV001354727] Chr7:107548167 [GRCh38]
Chr7:107188612 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1766T>A (p.Met589Lys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001314880] Chr7:107248483 [GRCh38]
Chr7:106888928 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.118G>A (p.Glu40Lys) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001361664] Chr7:107558092 [GRCh38]
Chr7:107198537 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.2477C>T (p.Ser826Phe) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001363338] Chr7:107203529 [GRCh38]
Chr7:106843974 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1882G>A (p.Val628Ile) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001373447] Chr7:107236659 [GRCh38]
Chr7:106877104 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.538+5del deletion Congenital disorder of glycosylation type 2i [RCV001366350] Chr7:107527232 [GRCh38]
Chr7:107167677 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.887G>A (p.Arg296His) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001340942] Chr7:107362369 [GRCh38]
Chr7:107002814 [GRCh37]
Chr7:7q22.3
uncertain significance
NM_006348.5(COG5):c.1452T>C (p.Asp484=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001475577] Chr7:107283594 [GRCh38]
Chr7:106924039 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.2346A>T (p.Pro782=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001503455] Chr7:107210555 [GRCh38]
Chr7:106851000 [GRCh37]
Chr7:7q22.3
likely benign
NM_006348.5(COG5):c.780C>T (p.Ile260=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001441585] Chr7:107372650 [GRCh38]
Chr7:107013095 [GRCh37]
Chr7:7q22.3
likely benign
NC_000007.13:g.(?_106850999_106857739del deletion Congenital disorder of glycosylation type 2i [RCV001378514]   likely pathogenic
NM_006348.5(COG5):c.159T>C (p.His53=) single nucleotide variant Congenital disorder of glycosylation type 2i [RCV001469367] Chr7:107558051 [GRCh38]
Chr7:107198496 [GRCh37]
Chr7:7q22.3
likely benign
NC_000007.13:g.(?_106851000_106857739del deletion Congenital disorder of glycosylation type 2i [RCV001378515]   likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14857 AgrOrtholog
COSMIC COG5 COSMIC
Ensembl Genes ENSG00000164597 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297135 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000334703 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377228 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000476238 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297135 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000347053 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393603 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000605888 UniProtKB/TrEMBL
GTEx ENSG00000164597 GTEx
HGNC ID HGNC:14857 ENTREZGENE
Human Proteome Map COG5 Human Proteome Map
InterPro Cog5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10466 UniProtKB/Swiss-Prot
NCBI Gene 10466 ENTREZGENE
OMIM 606821 OMIM
  613612 OMIM
PANTHER PTHR13228 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COG5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26698 PharmGKB
UniProt COG5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U3KQU7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D0R6 UniProtKB/Swiss-Prot
  A4D0R7 UniProtKB/Swiss-Prot
  O14555 UniProtKB/Swiss-Prot
  O95008 UniProtKB/Swiss-Prot
  Q6NUL5 UniProtKB/Swiss-Prot