TRAPPC9 (trafficking protein particle complex subunit 9) - Rat Genome Database

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Gene: TRAPPC9 (trafficking protein particle complex subunit 9) Homo sapiens
Analyze
Symbol: TRAPPC9
Name: trafficking protein particle complex subunit 9
RGD ID: 1605926
HGNC Page HGNC
Description: Involved in cerebral cortex development. Localizes to TRAPP complex. Implicated in autosomal recessive non-syndromic intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: IBP; IKBKBBP; IKK2 binding protein; KIAA1882; MGC4737; MGC4769; MRT13; NIBP; NIK and IKK-beta binding protein; NIK- and IKBKB-binding protein; T1; trafficking protein particle complex 9; TRAPP 120 kDa subunit; TRS120; tularik gene 1 protein
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 Ensembl8139,727,725 - 140,458,579 (-)EnsemblGRCh38hg38GRCh38
GRCh388139,727,725 - 140,458,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378140,739,968 - 141,468,678 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368140,811,770 - 141,537,860 (-)NCBINCBI36hg18NCBI36
Celera8136,910,795 - 137,637,626 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8136,053,781 - 136,779,850 (-)NCBIHuRef
CHM1_18140,780,169 - 141,509,239 (-)NCBICHM1_1
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
protein binding  (IPI,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormality of the cerebellar vermis  (IAGP)
Absent septum pellucidum  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachycephaly  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital hypothyroidism  (IAGP)
Congenital stationary night blindness  (IAGP)
Cortical dysplasia  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Depressivity  (IAGP)
Downturned corners of mouth  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
Epicanthus  (IAGP)
Epileptic spasm  (IAGP)
Focal-onset seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Horizontal eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Large basal ganglia  (IAGP)
Large fleshy ears  (IAGP)
Malignant hyperthermia  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Multifocal cerebral white matter abnormalities  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Narrow forehead  (IAGP)
Nasogastric tube feeding  (IAGP)
Obesity  (IAGP)
Polymicrogyria  (IAGP)
Poor speech  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short philtrum  (IAGP)
Sleep disturbance  (IAGP)
Smooth philtrum  (IAGP)
Spasticity  (IAGP)
Stereotypy  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Thin upper lip vermilion  (IAGP)
Truncal obesity  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:11572484   PMID:12477932   PMID:14702039   PMID:15951441   PMID:16344560   PMID:19724895   PMID:19851296   PMID:20004763   PMID:20004764   PMID:20004765   PMID:20018008   PMID:20198315  
PMID:20379614   PMID:20966969   PMID:21244100   PMID:21273506   PMID:21513506   PMID:21525244   PMID:21629298   PMID:21704414   PMID:21858081   PMID:21873635   PMID:22279557   PMID:22549410  
PMID:22658674   PMID:22912676   PMID:22952603   PMID:22989526   PMID:23022380   PMID:23077036   PMID:23251661   PMID:23412934   PMID:23474757   PMID:24040793   PMID:24255178   PMID:24667089  
PMID:24776741   PMID:24980697   PMID:25018876   PMID:25189868   PMID:25704885   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26596835   PMID:27108886   PMID:27109343   PMID:27173435  
PMID:28125661   PMID:28319085   PMID:28514442   PMID:28611215   PMID:29031008   PMID:29187737   PMID:29449217   PMID:29507755   PMID:29568061   PMID:29620292   PMID:30209976   PMID:30833792  
PMID:31586073   PMID:32046534   PMID:32877400  


Genomics

Comparative Map Data
TRAPPC9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8139,727,725 - 140,458,579 (-)EnsemblGRCh38hg38GRCh38
GRCh388139,727,725 - 140,458,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378140,739,968 - 141,468,678 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368140,811,770 - 141,537,860 (-)NCBINCBI36hg18NCBI36
Celera8136,910,795 - 137,637,626 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8136,053,781 - 136,779,850 (-)NCBIHuRef
CHM1_18140,780,169 - 141,509,239 (-)NCBICHM1_1
Trappc9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391572,461,469 - 72,933,086 (-)NCBIGRCm39mm39
GRCm39 Ensembl1572,461,469 - 72,933,053 (-)Ensembl
GRCm381572,589,620 - 73,061,238 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1572,589,620 - 73,061,204 (-)EnsemblGRCm38mm10GRCm38
MGSCv371572,420,050 - 72,891,634 (-)NCBIGRCm37mm9NCBIm37
MGSCv361573,046,993 - 73,518,251 (-)NCBImm8
MGSCv361572,416,876 - 72,888,460 (-)NCBImm8
Celera1574,088,714 - 74,562,121 (-)NCBICelera
Cytogenetic Map15D3NCBI
Trappc9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27104,521,593 - 104,998,352 (-)NCBI
Rnor_6.0 Ensembl7113,681,793 - 114,305,896 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07113,986,363 - 114,309,090 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07114,185,706 - 114,244,503 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07113,614,134 - 113,676,676 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07113,923,437 - 114,090,503 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47110,316,543 - 110,796,685 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17110,498,700 - 110,830,468 (-)NCBI
Celera7100,935,899 - 101,408,042 (-)NCBICelera
Cytogenetic Map7q34NCBI
Trappc9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546113,498,671 - 14,124,227 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546113,498,088 - 14,130,159 (-)NCBIChiLan1.0ChiLan1.0
TRAPPC9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18139,495,813 - 140,267,032 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8139,644,041 - 140,214,782 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08136,402,736 - 137,180,507 (-)NCBIMhudiblu_PPA_v0panPan3
TRAPPC9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11334,579,134 - 35,115,508 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1334,579,126 - 35,115,494 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1334,496,817 - 34,982,923 (-)NCBI
ROS_Cfam_1.01334,961,156 - 35,508,264 (-)NCBI
UMICH_Zoey_3.11334,684,318 - 35,228,787 (-)NCBI
UNSW_CanFamBas_1.01334,773,879 - 35,318,617 (-)NCBI
UU_Cfam_GSD_1.01335,193,579 - 35,738,283 (-)NCBI
Trappc9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053033,318,751 - 3,816,953 (+)NCBI
SpeTri2.0NW_00493647010,747,343 - 11,243,052 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRAPPC9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl43,065,236 - 3,533,668 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.143,065,254 - 3,533,670 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.242,565,763 - 3,021,011 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRAPPC9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18133,992,020 - 134,698,218 (-)NCBI
ChlSab1.1 Ensembl8134,471,193 - 134,691,231 (-)Ensembl
Trappc9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473515,898,189 - 16,661,799 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5487
Count of miRNA genes:987
Interacting mature miRNAs:1193
Transcripts:ENST00000389327, ENST00000389328, ENST00000438773, ENST00000517667, ENST00000518723, ENST00000518839, ENST00000519482, ENST00000520532, ENST00000520857, ENST00000521167, ENST00000521667, ENST00000521700, ENST00000521944, ENST00000522504, ENST00000523777, ENST00000524162
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 adipose tissue appendage entire extraembryonic component
High
Medium 1555 1452 1110 109 828 17 3184 1504 2246 92 1173 1243 100 337 2408 2
Low 878 1530 600 500 1118 434 1171 689 1463 322 275 365 70 867 380 2
Below cutoff 1 2 15 13 2 13 7 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA863329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB067469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC040978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY190606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY630619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP394939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA228705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA778234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA782470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R49592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389328   ⟹   ENSP00000373979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,730,343 - 140,458,579 (-)Ensembl
RefSeq Acc Id: ENST00000438773   ⟹   ENSP00000405060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,727,725 - 140,457,744 (-)Ensembl
RefSeq Acc Id: ENST00000517667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,988,740 - 140,238,493 (-)Ensembl
RefSeq Acc Id: ENST00000518723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,904,432 - 139,908,695 (-)Ensembl
RefSeq Acc Id: ENST00000518839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,215,910 - 140,262,730 (-)Ensembl
RefSeq Acc Id: ENST00000519482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,731,044 - 139,908,758 (-)Ensembl
RefSeq Acc Id: ENST00000520532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,988,823 - 140,262,731 (-)Ensembl
RefSeq Acc Id: ENST00000520857   ⟹   ENSP00000430116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,730,345 - 140,450,930 (-)Ensembl
RefSeq Acc Id: ENST00000521167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,283,987 - 140,302,835 (-)Ensembl
RefSeq Acc Id: ENST00000521667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,730,892 - 140,291,251 (-)Ensembl
RefSeq Acc Id: ENST00000521700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,731,006 - 139,806,233 (-)Ensembl
RefSeq Acc Id: ENST00000521944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,405,293 - 140,435,197 (-)Ensembl
RefSeq Acc Id: ENST00000522504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,730,996 - 139,881,295 (-)Ensembl
RefSeq Acc Id: ENST00000523777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,732,162 - 140,082,153 (-)Ensembl
RefSeq Acc Id: ENST00000524162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,732,093 - 140,008,591 (-)Ensembl
RefSeq Acc Id: ENST00000634178   ⟹   ENSP00000488007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8140,252,571 - 140,275,753 (-)Ensembl
RefSeq Acc Id: ENST00000648948   ⟹   ENSP00000498020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8139,727,725 - 140,458,579 (-)Ensembl
RefSeq Acc Id: NM_001160372   ⟹   NP_001153844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,457,744 (-)NCBI
GRCh378140,740,324 - 141,468,678 (-)NCBI
Celera8136,910,795 - 137,637,626 (-)RGD
HuRef8136,053,781 - 136,779,850 (-)RGD
CHM1_18140,780,169 - 141,508,432 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321646   ⟹   NP_001308575
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,457,744 (-)NCBI
CHM1_18140,780,169 - 141,508,432 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374682   ⟹   NP_001361611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,457,744 (-)NCBI
RefSeq Acc Id: NM_001374683   ⟹   NP_001361612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,457,744 (-)NCBI
RefSeq Acc Id: NM_001374684   ⟹   NP_001361613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,457,744 (-)NCBI
RefSeq Acc Id: NM_031466   ⟹   NP_113654
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,458,579 (-)NCBI
GRCh378140,740,324 - 141,468,678 (-)NCBI
Build 368140,811,770 - 141,537,860 (-)NCBI Archive
Celera8136,910,795 - 137,637,626 (-)RGD
HuRef8136,053,781 - 136,779,850 (-)RGD
CHM1_18140,780,169 - 141,509,239 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164662
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,727,725 - 140,457,744 (-)NCBI
RefSeq Acc Id: XM_011517326   ⟹   XP_011515628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,730,345 - 140,458,579 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517328   ⟹   XP_011515630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,884,036 - 140,458,579 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517330   ⟹   XP_011515632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,728,081 - 140,347,925 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013893   ⟹   XP_016869382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,174,369 - 140,458,579 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013894   ⟹   XP_016869383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,728,081 - 140,368,367 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928355
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,732,162 - 140,458,579 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_113654   ⟸   NM_031466
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001153844   ⟸   NM_001160372
- Peptide Label: isoform b
- UniProtKB: Q96Q05 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515628   ⟸   XM_011517326
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515632   ⟸   XM_011517330
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515630   ⟸   XM_011517328
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001308575   ⟸   NM_001321646
- Peptide Label: isoform c
- UniProtKB: Q96Q05 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869383   ⟸   XM_017013894
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869382   ⟸   XM_017013893
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001361613   ⟸   NM_001374684
- Peptide Label: isoform f
RefSeq Acc Id: NP_001361612   ⟸   NM_001374683
- Peptide Label: isoform e
RefSeq Acc Id: NP_001361611   ⟸   NM_001374682
- Peptide Label: isoform d
RefSeq Acc Id: ENSP00000405060   ⟸   ENST00000438773
RefSeq Acc Id: ENSP00000498020   ⟸   ENST00000648948
RefSeq Acc Id: ENSP00000488007   ⟸   ENST00000634178
RefSeq Acc Id: ENSP00000373979   ⟸   ENST00000389328
RefSeq Acc Id: ENSP00000430116   ⟸   ENST00000520857

Promoters
RGD ID:7214251
Promoter ID:EPDNEW_H12870
Type:multiple initiation site
Name:TRAPPC9_2
Description:trafficking protein particle complex 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12871  EPDNEW_H12872  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,457,565 - 140,457,625EPDNEW
RGD ID:7214249
Promoter ID:EPDNEW_H12871
Type:initiation region
Name:TRAPPC9_1
Description:trafficking protein particle complex 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12870  EPDNEW_H12872  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,457,744 - 140,457,804EPDNEW
RGD ID:7214253
Promoter ID:EPDNEW_H12872
Type:multiple initiation site
Name:TRAPPC9_3
Description:trafficking protein particle complex 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12871  EPDNEW_H12870  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388140,465,313 - 140,465,373EPDNEW
RGD ID:6807081
Promoter ID:HG_KWN:62182
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003YVI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368141,530,561 - 141,531,061 (-)MPROMDB
RGD ID:6807080
Promoter ID:HG_KWN:62183
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000389327,   NM_001160372,   UC003YVJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368141,536,891 - 141,537,552 (-)MPROMDB
RGD ID:6807082
Promoter ID:HG_KWN:62184
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000301226,   NM_031466
Position:
Human AssemblyChrPosition (strand)Source
Build 368141,537,379 - 141,537,879 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001160372.4(TRAPPC9):c.2557-2A>C single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000034319] Chr8:140024081 [GRCh38]
Chr8:141034178 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000000794] Chr8:140397625 [GRCh38]
Chr8:141407724 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000000795]|not provided [RCV000273297] Chr8:140360131 [GRCh38]
Chr8:141370230 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
TRAPPC9, 4-BP DEL, 2311TGTT deletion Mental retardation, autosomal recessive 13 [RCV000000796] Chr8:8q24.3 pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:140060745-140721324)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052820]|See cases [RCV000052820] Chr8:140060745..140721324 [GRCh38]
Chr8:141070843..141731423 [GRCh37]
Chr8:141140025..141800605 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:140287451-140393615)x1 copy number loss See cases [RCV000052821] Chr8:140287451..140393615 [GRCh38]
Chr8:141297550..141403714 [GRCh37]
Chr8:141366732..141472896 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_031466.6(TRAPPC9):c.2499C>T (p.Ile833=) single nucleotide variant Malignant melanoma [RCV000068177] Chr8:140275731 [GRCh38]
Chr8:141285830 [GRCh37]
Chr8:141355012 [NCBI36]
Chr8:8q24.3
not provided
NM_031466.6(TRAPPC9):c.1776C>T (p.Phe592=) single nucleotide variant Malignant melanoma [RCV000068178] Chr8:140360063 [GRCh38]
Chr8:141370162 [GRCh37]
Chr8:141439344 [NCBI36]
Chr8:8q24.3
not provided
NM_031466.6(TRAPPC9):c.2866C>T (p.Leu956=) single nucleotide variant Malignant melanoma [RCV000061763] Chr8:140024064 [GRCh38]
Chr8:141034161 [GRCh37]
Chr8:141103343 [NCBI36]
Chr8:8q24.3
not provided
NM_031466.6(TRAPPC9):c.2865C>T (p.Val955=) single nucleotide variant Malignant melanoma [RCV000061764] Chr8:140024065 [GRCh38]
Chr8:141034162 [GRCh37]
Chr8:141103344 [NCBI36]
Chr8:8q24.3
not provided
NM_031466.6(TRAPPC9):c.3350-69202A>G single nucleotide variant Lung cancer [RCV000107199] Chr8:139801404 [GRCh38]
Chr8:140813647 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.6(TRAPPC9):c.3350-73369G>A single nucleotide variant Lung cancer [RCV000107200] Chr8:139805571 [GRCh38]
Chr8:140817814 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.6(TRAPPC9):c.2850+8819A>G single nucleotide variant Lung cancer [RCV000107201] Chr8:140212640 [GRCh38]
Chr8:141222739 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) single nucleotide variant History of neurodevelopmental disorder [RCV000716957]|Intellectual Disability, Recessive [RCV000286252]|Intellectual disability [RCV001252374]|Mental retardation, autosomal recessive 13 [RCV000764743]|not provided [RCV000118658]|not specified [RCV000501917] Chr8:140397735 [GRCh38]
Chr8:141407834 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=) single nucleotide variant Intellectual Disability, Recessive [RCV000331735]|not provided [RCV000891519]|not specified [RCV000118660] Chr8:140360138 [GRCh38]
Chr8:141370237 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=) single nucleotide variant Intellectual Disability, Recessive [RCV000262428]|not provided [RCV000118661] Chr8:140291038 [GRCh38]
Chr8:141301137 [GRCh37]
Chr8:8q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001160372.4(TRAPPC9):c.2540A>C (p.Asp847Ala) single nucleotide variant not provided [RCV000118662] Chr8:140221475 [GRCh38]
Chr8:141231574 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3390A>C (p.Pro1130=) single nucleotide variant not provided [RCV000896017]|not specified [RCV000118664] Chr8:139731118 [GRCh38]
Chr8:140743361 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.980A>G (p.Tyr327Cys) single nucleotide variant not provided [RCV000118665] Chr8:140405605 [GRCh38]
Chr8:141415704 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=) single nucleotide variant not provided [RCV000118666] Chr8:140371121 [GRCh38]
Chr8:141381220 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1768+7C>T single nucleotide variant not provided [RCV000118669] Chr8:140300462 [GRCh38]
Chr8:141310561 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) single nucleotide variant History of neurodevelopmental disorder [RCV000715274]|Intellectual Disability, Recessive [RCV000384914]|not specified [RCV000118681] Chr8:140451086 [GRCh38]
Chr8:141461185 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000118683]|not provided [RCV000419270] Chr8:140451007 [GRCh38]
Chr8:141461106 [GRCh37]
Chr8:8q24.3
pathogenic
NM_031466.7(TRAPPC9):c.160A>G (p.Ser54Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000719771]|Intellectual Disability, Recessive [RCV000278340]|not provided [RCV000960904]|not specified [RCV000118659] Chr8:140458405 [GRCh38]
Chr8:141468504 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000717143]|Intellectual Disability, Recessive [RCV000311757]|Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [RCV001252380]|not provided [RCV000947138]|not specified [RCV000118663] Chr8:139732095 [GRCh38]
Chr8:140744338 [GRCh37]
Chr8:8q24.3
likely pathogenic|benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) single nucleotide variant History of neurodevelopmental disorder [RCV000716592]|Intellectual Disability, Recessive [RCV000261001]|not provided [RCV000956678]|not specified [RCV000118667] Chr8:140360087 [GRCh38]
Chr8:141370186 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) single nucleotide variant History of neurodevelopmental disorder [RCV000715407]|Intellectual Disability, Recessive [RCV000319877]|not specified [RCV000118668] Chr8:140300545 [GRCh38]
Chr8:141310644 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) single nucleotide variant History of neurodevelopmental disorder [RCV000715492]|Intellectual Disability, Recessive [RCV000359487]|not provided [RCV000969954]|not specified [RCV000118670] Chr8:140287720 [GRCh38]
Chr8:141297819 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) single nucleotide variant History of neurodevelopmental disorder [RCV000715336]|Intellectual Disability, Recessive [RCV000347198]|not specified [RCV000118671] Chr8:140252916 [GRCh38]
Chr8:141263015 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.2431+7G>A single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000289866]|not specified [RCV000118672] Chr8:140252770 [GRCh38]
Chr8:141262869 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.2473C>T (p.Arg825Trp) single nucleotide variant not provided [RCV000118673] Chr8:140221542 [GRCh38]
Chr8:141231641 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.284+10G>A single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000286995]|not provided [RCV000964420]|not specified [RCV000118674] Chr8:140458271 [GRCh38]
Chr8:141468370 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715913]|Intellectual Disability, Recessive [RCV000376511]|not provided [RCV000224718]|not specified [RCV000118675] Chr8:139988739 [GRCh38]
Chr8:140998947 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) single nucleotide variant History of neurodevelopmental disorder [RCV000715442]|Intellectual Disability, Recessive [RCV000323246]|not specified [RCV000118676] Chr8:139988737 [GRCh38]
Chr8:140998945 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=) single nucleotide variant History of neurodevelopmental disorder [RCV000718607]|Intellectual Disability, Recessive [RCV000351447]|not provided [RCV000975192]|not specified [RCV000118677] Chr8:139732033 [GRCh38]
Chr8:140744276 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) single nucleotide variant History of neurodevelopmental disorder [RCV000715506]|Intellectual Disability, Recessive [RCV000298928]|not provided [RCV001310642]|not specified [RCV000118678] Chr8:139732009 [GRCh38]
Chr8:140744252 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3279+4C>T single nucleotide variant History of neurodevelopmental disorder [RCV000715640]|Mental retardation, autosomal recessive 13 [RCV000400581]|not specified [RCV000118679] Chr8:139731975 [GRCh38]
Chr8:140744218 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) single nucleotide variant History of neurodevelopmental disorder [RCV000715299]|Intellectual Disability, Recessive [RCV000322051]|not specified [RCV000118680] Chr8:140451167 [GRCh38]
Chr8:141461266 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) single nucleotide variant History of neurodevelopmental disorder [RCV000715322]|Intellectual Disability, Recessive [RCV000325741]|not specified [RCV000118682] Chr8:140451017 [GRCh38]
Chr8:141461116 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) single nucleotide variant History of neurodevelopmental disorder [RCV000715352]|Intellectual Disability, Recessive [RCV000369913]|not specified [RCV000118684] Chr8:140450975 [GRCh38]
Chr8:141461074 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) single nucleotide variant History of neurodevelopmental disorder [RCV000715246]|Intellectual Disability, Recessive [RCV000334004]|not specified [RCV000118685] Chr8:140450963 [GRCh38]
Chr8:141461062 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) single nucleotide variant History of neurodevelopmental disorder [RCV000717722]|Intellectual Disability, Recessive [RCV000274208]|not provided [RCV000974241]|not specified [RCV000118686] Chr8:140450960 [GRCh38]
Chr8:141461059 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.456C>T (p.Ile152=) single nucleotide variant History of neurodevelopmental disorder [RCV000716339]|not specified [RCV000118687] Chr8:140450918 [GRCh38]
Chr8:141461017 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) single nucleotide variant History of neurodevelopmental disorder [RCV000715366]|Intellectual Disability, Recessive [RCV000300177]|not specified [RCV000118688] Chr8:140450819 [GRCh38]
Chr8:141460918 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.2551del (p.His850_Val851insTer) deletion Mental retardation, autosomal recessive 13 [RCV001292687] Chr8:140221464 [GRCh38]
Chr8:141231563 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) single nucleotide variant not provided [RCV000171421] Chr8:139885900 [GRCh38]
Chr8:140898144 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_031466.8(TRAPPC9):c.-249C>T single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001333296] Chr8:140458519 [GRCh38]
Chr8:141468618 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139864393-141031612)x3 copy number gain See cases [RCV000134143] Chr8:139864393..141031612 [GRCh38]
Chr8:140876636..142041711 [GRCh37]
Chr8:140945818..142110893 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) single nucleotide variant not specified [RCV000202690] Chr8:139731144 [GRCh38]
Chr8:140743387 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:139969846-140216465)x1 copy number loss See cases [RCV000137103] Chr8:139969846..140216465 [GRCh38]
Chr8:140980052..141226564 [GRCh37]
Chr8:141049234..141295746 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000719626]|Intellectual Disability, Recessive [RCV000271592]|Intellectual disability [RCV001252376]|Mental retardation, autosomal recessive 13 [RCV000677118]|not provided [RCV000894194]|not specified [RCV000192374] Chr8:140451111 [GRCh38]
Chr8:141461210 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=) single nucleotide variant Intellectual Disability, Recessive [RCV000291897]|not provided [RCV000905045]|not specified [RCV000192518] Chr8:140370989 [GRCh38]
Chr8:141381088 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3278C>T (p.Ala1093Val) single nucleotide variant not specified [RCV000192629] Chr8:139731980 [GRCh38]
Chr8:140744223 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu) single nucleotide variant not specified [RCV000192680] Chr8:140024039 [GRCh38]
Chr8:141034136 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met) single nucleotide variant not specified [RCV000192934] Chr8:140300544 [GRCh38]
Chr8:141310643 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=) single nucleotide variant History of neurodevelopmental disorder [RCV000717639]|not provided [RCV000879298]|not specified [RCV000193157] Chr8:139885922 [GRCh38]
Chr8:140898166 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp) single nucleotide variant not specified [RCV000193279] Chr8:139732110 [GRCh38]
Chr8:140744353 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) single nucleotide variant History of neurodevelopmental disorder [RCV000717444]|Intellectual Disability, Recessive [RCV000397285]|not provided [RCV000913602]|not specified [RCV000193435] Chr8:140371151 [GRCh38]
Chr8:141381250 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) single nucleotide variant Intellectual disability [RCV001252371]|Mental retardation, autosomal recessive 13 [RCV001336727]|not specified [RCV000193466] Chr8:140311306 [GRCh38]
Chr8:141321405 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3292G>C (p.Gly1098Arg) single nucleotide variant not specified [RCV000193670] Chr8:139731216 [GRCh38]
Chr8:140743459 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg) single nucleotide variant not specified [RCV000193776] Chr8:140451105 [GRCh38]
Chr8:141461204 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=) single nucleotide variant not provided [RCV000933957]|not specified [RCV000194078] Chr8:140283966 [GRCh38]
Chr8:141294065 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) single nucleotide variant History of neurodevelopmental disorder [RCV000715421]|Mental retardation, autosomal recessive 13 [RCV000764742]|not provided [RCV000766964]|not specified [RCV000194083] Chr8:139910229 [GRCh38]
Chr8:140922473 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=) single nucleotide variant History of neurodevelopmental disorder [RCV000717542]|not provided [RCV000893698]|not specified [RCV000194212] Chr8:139732189 [GRCh38]
Chr8:140744432 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000715397]|Intellectual Disability, Recessive [RCV000390442]|Mental retardation, autosomal recessive 13 [RCV000764741]|not provided [RCV000766965]|not specified [RCV000194313] Chr8:139732083 [GRCh38]
Chr8:140744326 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=) single nucleotide variant History of neurodevelopmental disorder [RCV000717950]|not provided [RCV000881432]|not specified [RCV000194342] Chr8:140451215 [GRCh38]
Chr8:141461314 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.1177G>A (p.Glu393Lys) single nucleotide variant Intellectual Disability, Recessive [RCV000344704]|not specified [RCV000194495] Chr8:140371138 [GRCh38]
Chr8:141381237 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001328634]|not provided [RCV000766963]|not specified [RCV000194634] Chr8:140287691 [GRCh38]
Chr8:141297790 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=) single nucleotide variant History of neurodevelopmental disorder [RCV000717279]|Intellectual Disability, Recessive [RCV000356435]|not provided [RCV000899688]|not specified [RCV000194824] Chr8:140439194 [GRCh38]
Chr8:141449293 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.1603A>T (p.Thr535Ser) single nucleotide variant not provided [RCV000656320]|not specified [RCV000194883] Chr8:140311267 [GRCh38]
Chr8:141321366 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2921G>A (p.Arg974Gln) single nucleotide variant not specified [RCV000195122] Chr8:139910190 [GRCh38]
Chr8:140922434 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.44C>T (p.Thr15Met) single nucleotide variant not specified [RCV000195216] Chr8:140451330 [GRCh38]
Chr8:141461429 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.92G>C (p.Arg31Pro) single nucleotide variant not specified [RCV000192857] Chr8:140458473 [GRCh38]
Chr8:141468572 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.222G>C (p.Ala74=) single nucleotide variant History of neurodevelopmental disorder [RCV000717622]|not provided [RCV000906910]|not specified [RCV000193018] Chr8:140458343 [GRCh38]
Chr8:141468442 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_031466.7(TRAPPC9):c.284+6C>T single nucleotide variant not specified [RCV000195095] Chr8:140458275 [GRCh38]
Chr8:141468374 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.653T>A (p.Met218Lys) single nucleotide variant not specified [RCV000193415] Chr8:140439129 [GRCh38]
Chr8:141449228 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1745G>C (p.Gly582Ala) single nucleotide variant not specified [RCV000193573] Chr8:140300492 [GRCh38]
Chr8:141310591 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001336731]|not provided [RCV000513800] Chr8:139910257 [GRCh38]
Chr8:140922501 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_001160372.4(TRAPPC9):c.71G>A (p.Gly24Asp) single nucleotide variant not provided [RCV000224589] Chr8:140451303 [GRCh38]
Chr8:141461402 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) single nucleotide variant Intellectual disability [RCV001252375]|Mental retardation, autosomal recessive 13 [RCV000764744]|not provided [RCV000224748]|not specified [RCV000503217] Chr8:140435118 [GRCh38]
Chr8:141445217 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.-6T>C single nucleotide variant not provided [RCV000224872] Chr8:140451379 [GRCh38]
Chr8:141461478 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2794G>A (p.Ala932Thr) single nucleotide variant not specified [RCV000238778] Chr8:139988742 [GRCh38]
Chr8:140998950 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2036C>T (p.Pro679Leu) single nucleotide variant not provided [RCV000520152] Chr8:140283967 [GRCh38]
Chr8:141294066 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) single nucleotide variant Intellectual Disability, Recessive [RCV000368670]|Intellectual disability [RCV001252377]|Mental retardation, autosomal recessive 13 [RCV000709937]|not specified [RCV000501719] Chr8:139732109 [GRCh38]
Chr8:140744352 [GRCh37]
Chr8:8q24.3
uncertain significance|not provided
NM_001160372.4(TRAPPC9):c.1938G>A (p.Thr646=) single nucleotide variant Intellectual Disability, Recessive [RCV000302369] Chr8:140287651 [GRCh38]
Chr8:141297750 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.*181G>A single nucleotide variant Intellectual Disability, Recessive [RCV000269789] Chr8:139730880 [GRCh38]
Chr8:140743123 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.*65C>G single nucleotide variant Intellectual Disability, Recessive [RCV000286322] Chr8:139730996 [GRCh38]
Chr8:140743239 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2279-11del deletion Intellectual Disability, Recessive [RCV000398698] Chr8:140252940 [GRCh38]
Chr8:141263039 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2811-4G>A single nucleotide variant History of neurodevelopmental disorder [RCV000718860]|Mental retardation, autosomal recessive 13 [RCV000270490]|not provided [RCV001311334] Chr8:139910304 [GRCh38]
Chr8:140922548 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val) single nucleotide variant Intellectual Disability, Recessive [RCV000270574]|not provided [RCV000898470] Chr8:140451004 [GRCh38]
Chr8:141461103 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2556+11A>G single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000348295] Chr8:140221448 [GRCh38]
Chr8:141231547 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) single nucleotide variant Intellectual Disability, Recessive [RCV000271805]|Mental retardation, autosomal recessive 13 [RCV001336733]|not provided [RCV000914028]|not specified [RCV000500118] Chr8:139732122 [GRCh38]
Chr8:140744365 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.*104C>T single nucleotide variant Intellectual Disability, Recessive [RCV000327095] Chr8:139730957 [GRCh38]
Chr8:140743200 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=) single nucleotide variant History of neurodevelopmental disorder [RCV000715590]|Intellectual Disability, Recessive [RCV000375192]|not provided [RCV000968134] Chr8:139988794 [GRCh38]
Chr8:140999002 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.*331C>T single nucleotide variant Intellectual Disability, Recessive [RCV000328134] Chr8:139730730 [GRCh38]
Chr8:140742973 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000715306]|Intellectual Disability, Recessive [RCV000376722]|Mental retardation, autosomal recessive 13 [RCV000764745]|not specified [RCV000503914] Chr8:140451234 [GRCh38]
Chr8:141461333 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=) single nucleotide variant History of neurodevelopmental disorder [RCV000717167]|Intellectual Disability, Recessive [RCV000377332]|not specified [RCV000504491] Chr8:139731097 [GRCh38]
Chr8:140743340 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=) single nucleotide variant Intellectual Disability, Recessive [RCV000307775] Chr8:140275691 [GRCh38]
Chr8:141285790 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp) single nucleotide variant Intellectual Disability, Recessive [RCV000402129]|not provided [RCV000656319]|not specified [RCV001174659] Chr8:140435166 [GRCh38]
Chr8:141445265 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.*375C>T single nucleotide variant Intellectual Disability, Recessive [RCV000275408] Chr8:139730686 [GRCh38]
Chr8:140742929 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=) single nucleotide variant History of neurodevelopmental disorder [RCV000719355]|Intellectual Disability, Recessive [RCV000310370] Chr8:139885946 [GRCh38]
Chr8:140898190 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.*677T>C single nucleotide variant Intellectual Disability, Recessive [RCV000276379] Chr8:139730384 [GRCh38]
Chr8:140742627 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val) single nucleotide variant Intellectual Disability, Recessive [RCV000293136]|not specified [RCV000500872] Chr8:140360125 [GRCh38]
Chr8:141370224 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.*285A>C single nucleotide variant Intellectual Disability, Recessive [RCV000385240] Chr8:139730776 [GRCh38]
Chr8:140743019 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) single nucleotide variant Intellectual Disability, Recessive [RCV000278570]|Mental retardation, autosomal recessive 13 [RCV001336730] Chr8:140023983 [GRCh38]
Chr8:141034080 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2557-14T>A single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000296151] Chr8:140024093 [GRCh38]
Chr8:141034190 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=) single nucleotide variant Intellectual Disability, Recessive [RCV000337927] Chr8:139731220 [GRCh38]
Chr8:140743463 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=) single nucleotide variant History of neurodevelopmental disorder [RCV000717689]|Intellectual Disability, Recessive [RCV000280516]|not provided [RCV000965088] Chr8:139731217 [GRCh38]
Chr8:140743460 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.*576G>A single nucleotide variant Intellectual Disability, Recessive [RCV000315440] Chr8:139730485 [GRCh38]
Chr8:140742728 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000719419]|Intellectual Disability, Recessive [RCV000338962]|Intellectual disability [RCV001252372]|not provided [RCV000913653]|not specified [RCV000503076] Chr8:139731094 [GRCh38]
Chr8:140743337 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2827G>C (p.Asp943His) single nucleotide variant Intellectual Disability, Recessive [RCV000362706] Chr8:139910284 [GRCh38]
Chr8:140922528 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2557-13T>A single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000388069] Chr8:140024092 [GRCh38]
Chr8:141034189 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.1421T>G (p.Met474Arg) single nucleotide variant Intellectual Disability, Recessive [RCV000389509] Chr8:140360124 [GRCh38]
Chr8:141370223 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=) single nucleotide variant Intellectual Disability, Recessive [RCV000390346]|not provided [RCV000929098] Chr8:140221540 [GRCh38]
Chr8:141231639 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=) single nucleotide variant Intellectual Disability, Recessive [RCV000265509]|not provided [RCV000917666]|not specified [RCV000502241] Chr8:139988740 [GRCh38]
Chr8:140998948 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2652C>T (p.Val884=) single nucleotide variant Intellectual Disability, Recessive [RCV000317335] Chr8:140023984 [GRCh38]
Chr8:141034081 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.271G>A (p.Ala91Thr) single nucleotide variant Intellectual Disability, Recessive [RCV000341679] Chr8:140458294 [GRCh38]
Chr8:141468393 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) single nucleotide variant Intellectual Disability, Recessive [RCV000343506]|Intellectual disability [RCV001252373] Chr8:140405645 [GRCh38]
Chr8:141415744 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.*532G>A single nucleotide variant Intellectual Disability, Recessive [RCV000367806] Chr8:139730529 [GRCh38]
Chr8:140742772 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2077G>A (p.Ala693Thr) single nucleotide variant Intellectual Disability, Recessive [RCV000393647]|Intellectual disability [RCV001252378] Chr8:140283926 [GRCh38]
Chr8:141294025 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2622G>T (p.Arg874Ser) single nucleotide variant not provided [RCV000309073] Chr8:140024014 [GRCh38]
Chr8:141034111 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) single nucleotide variant not provided [RCV000489753]|not specified [RCV001169860] Chr8:139732202 [GRCh38]
Chr8:140744445 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_001160372.4(TRAPPC9):c.1435C>T (p.Leu479Phe) single nucleotide variant Intellectual Disability, Recessive [RCV000332605] Chr8:140360110 [GRCh38]
Chr8:141370209 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1370C>A (p.Ala457Asp) single nucleotide variant Intellectual Disability, Recessive [RCV000383902] Chr8:140360175 [GRCh38]
Chr8:141370274 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=) single nucleotide variant Intellectual Disability, Recessive [RCV000318247] Chr8:139988743 [GRCh38]
Chr8:140998951 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.495C>G (p.Asp165Glu) single nucleotide variant Intellectual Disability, Recessive [RCV000368886] Chr8:140450879 [GRCh38]
Chr8:141460978 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.-10C>G single nucleotide variant Intellectual Disability, Recessive [RCV000338119] Chr8:140458574 [GRCh38]
Chr8:141468673 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=) single nucleotide variant Intellectual Disability, Recessive [RCV000353516] Chr8:140311310 [GRCh38]
Chr8:141321409 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.580A>C (p.Ser194Arg) single nucleotide variant Intellectual Disability, Recessive [RCV000390307] Chr8:140450794 [GRCh38]
Chr8:141460893 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.237G>A (p.Leu79=) single nucleotide variant Intellectual Disability, Recessive [RCV000372954] Chr8:140458328 [GRCh38]
Chr8:141468427 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs) duplication Mental retardation, autosomal recessive 13 [RCV000299257] Chr8:140439098..140439099 [GRCh38]
Chr8:141449197..141449198 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2237T>C (p.Leu746Ser) single nucleotide variant Intellectual Disability, Recessive [RCV000360152] Chr8:140275699 [GRCh38]
Chr8:141285798 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.*80G>C single nucleotide variant Intellectual Disability, Recessive [RCV000379425] Chr8:139730981 [GRCh38]
Chr8:140743224 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3220_3225delinsGACTAA (p.Asn1074_Tyr1075delinsAspTer) indel not provided [RCV000598810] Chr8:139732033..139732038 [GRCh38]
Chr8:140744276..140744281 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.1751A>G (p.Glu584Gly) single nucleotide variant not provided [RCV001092151] Chr8:140300486 [GRCh38]
Chr8:141310585 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141447774-141542712)x3 copy number gain See cases [RCV000447662] Chr8:141447774..141542712 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141016802-141086121)x1 copy number loss See cases [RCV000447499] Chr8:141016802..141086121 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141286569-141519946)x3 copy number gain See cases [RCV000446654] Chr8:141286569..141519946 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:140893641-140970359)x1 copy number loss See cases [RCV000448120] Chr8:140893641..140970359 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141446055-141538656)x3 copy number gain See cases [RCV000448357] Chr8:141446055..141538656 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3158G>A (p.Arg1053His) single nucleotide variant not provided [RCV000479875] Chr8:139732100 [GRCh38]
Chr8:140744343 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2811-1G>A single nucleotide variant not provided [RCV000484476] Chr8:139910301 [GRCh38]
Chr8:140922545 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.2486G>A (p.Arg829Gln) single nucleotide variant not provided [RCV000485603] Chr8:140221529 [GRCh38]
Chr8:141231628 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1294C>A (p.Leu432Ile) single nucleotide variant not specified [RCV000501060] Chr8:140371021 [GRCh38]
Chr8:141381120 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs) deletion not provided [RCV000498907] Chr8:140451094..140451100 [GRCh38]
Chr8:141461193..141461199 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.1357C>T (p.His453Tyr) single nucleotide variant not specified [RCV000501117] Chr8:140360188 [GRCh38]
Chr8:141370287 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1980C>T (p.Asn660=) single nucleotide variant not provided [RCV000882196]|not specified [RCV000501145] Chr8:140287609 [GRCh38]
Chr8:141297708 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000719242]|not specified [RCV000501215] Chr8:140023955 [GRCh38]
Chr8:141034052 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.543G>A (p.Pro181=) single nucleotide variant not specified [RCV000503384] Chr8:140450831 [GRCh38]
Chr8:141460930 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.687G>A (p.Ser229=) single nucleotide variant not specified [RCV000503544] Chr8:140439095 [GRCh38]
Chr8:141449194 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2662G>A (p.Val888Ile) single nucleotide variant not specified [RCV000503691] Chr8:140023974 [GRCh38]
Chr8:141034071 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000717892]|not specified [RCV000501564] Chr8:139885953 [GRCh38]
Chr8:140898197 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs) duplication Mental retardation, autosomal recessive 13 [RCV000501638] Chr8:140451000..140451001 [GRCh38]
Chr8:141461099..141461100 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000719335]|Mental retardation, autosomal recessive 13 [RCV000677117]|not provided [RCV000963458]|not specified [RCV000499445] Chr8:139732101 [GRCh38]
Chr8:140744344 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs) duplication Mental retardation, autosomal recessive 13 [RCV000499511] Chr8:140450842..140450843 [GRCh38]
Chr8:141460941..141460942 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716726]|Mental retardation, autosomal recessive 13 [RCV000660589]|not specified [RCV000501982] Chr8:139732047 [GRCh38]
Chr8:140744290 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1678T>C (p.Leu560=) single nucleotide variant not specified [RCV000504066] Chr8:140300559 [GRCh38]
Chr8:141310658 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2258C>T (p.Ser753Leu) single nucleotide variant not specified [RCV000504215] Chr8:140275678 [GRCh38]
Chr8:141285777 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1385G>A (p.Arg462His) single nucleotide variant not specified [RCV000504234] Chr8:140360160 [GRCh38]
Chr8:141370259 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.291G>C (p.Glu97Asp) single nucleotide variant not specified [RCV000504135] Chr8:140451083 [GRCh38]
Chr8:141461182 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3168G>A (p.Gly1056=) single nucleotide variant not provided [RCV000898375]|not specified [RCV000499570] Chr8:139732090 [GRCh38]
Chr8:140744333 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1078C>T (p.Arg360Trp) single nucleotide variant not specified [RCV000499773] Chr8:140397676 [GRCh38]
Chr8:141407775 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.51C>T (p.Ala17=) single nucleotide variant not specified [RCV000502019] Chr8:140458514 [GRCh38]
Chr8:141468613 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.584G>C (p.Arg195Thr) single nucleotide variant not specified [RCV000501958] Chr8:140450790 [GRCh38]
Chr8:141460889 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2341C>A (p.Gln781Lys) single nucleotide variant not specified [RCV000502100] Chr8:140252867 [GRCh38]
Chr8:141262966 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3237C>T (p.Asp1079=) single nucleotide variant not provided [RCV000906002]|not specified [RCV000499877] Chr8:139732021 [GRCh38]
Chr8:140744264 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1263G>A (p.Ala421=) single nucleotide variant not provided [RCV000948808]|not specified [RCV000499912] Chr8:140371052 [GRCh38]
Chr8:141381151 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.26G>A (p.Cys9Tyr) single nucleotide variant not specified [RCV000502159] Chr8:140451348 [GRCh38]
Chr8:141461447 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.82G>A (p.Glu28Lys) single nucleotide variant not specified [RCV000500208] Chr8:140451292 [GRCh38]
Chr8:141461391 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000625882]|not specified [RCV000502630] Chr8:140287641 [GRCh38]
Chr8:141297740 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.384G>A (p.Pro128=) single nucleotide variant not specified [RCV000500364] Chr8:140450990 [GRCh38]
Chr8:141461089 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3325C>A (p.Leu1109Ile) single nucleotide variant not specified [RCV000502922] Chr8:139731183 [GRCh38]
Chr8:140743426 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.1245C>T (p.Cys415=) single nucleotide variant not provided [RCV000938916]|not specified [RCV000500721] Chr8:140371070 [GRCh38]
Chr8:141381169 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2361G>A (p.Thr787=) single nucleotide variant not specified [RCV000500659] Chr8:140252847 [GRCh38]
Chr8:141262946 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001333295]|not provided [RCV000879231]|not specified [RCV000500833] Chr8:139731152 [GRCh38]
Chr8:140743395 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile) single nucleotide variant not provided [RCV000896018]|not specified [RCV000503198] Chr8:139732017 [GRCh38]
Chr8:140744260 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_001160372.4(TRAPPC9):c.1982-20A>C single nucleotide variant not provided [RCV000514086] Chr8:140284041 [GRCh38]
Chr8:141294140 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_031466.7(TRAPPC9):c.221C>A (p.Ala74Glu) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000660485] Chr8:140458344 [GRCh38]
Chr8:141468443 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2032C>G (p.Leu678Val) single nucleotide variant History of neurodevelopmental disorder [RCV000716800] Chr8:140283971 [GRCh38]
Chr8:141294070 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1296C>T (p.Leu432=) single nucleotide variant History of neurodevelopmental disorder [RCV000716701] Chr8:140371019 [GRCh38]
Chr8:141381118 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met) single nucleotide variant History of neurodevelopmental disorder [RCV000715999]|not provided [RCV000897794] Chr8:139731087 [GRCh38]
Chr8:140743330 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_001160372.4(TRAPPC9):c.2811-5C>T single nucleotide variant History of neurodevelopmental disorder [RCV000719837]|not provided [RCV000912032] Chr8:139910305 [GRCh38]
Chr8:140922549 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_001160372.4(TRAPPC9):c.192G>A (p.Glu64=) single nucleotide variant History of neurodevelopmental disorder [RCV000719496] Chr8:140451182 [GRCh38]
Chr8:141461281 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1233C>T (p.Ala411=) single nucleotide variant History of neurodevelopmental disorder [RCV000719502]|not provided [RCV000923599] Chr8:140371082 [GRCh38]
Chr8:141381181 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter) single nucleotide variant Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome [RCV001252379] Chr8:139988727 [GRCh38]
Chr8:140998935 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141093504-141180233)x1 copy number loss not provided [RCV000682921] Chr8:141093504..141180233 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:140942613-141160101)x1 copy number loss not provided [RCV000682947] Chr8:140942613..141160101 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) single nucleotide variant History of neurodevelopmental disorder [RCV000717242]|not provided [RCV000731941] Chr8:140451238 [GRCh38]
Chr8:141461337 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1982-1G>A single nucleotide variant History of neurodevelopmental disorder [RCV000717504] Chr8:140284022 [GRCh38]
Chr8:141294121 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000715746] Chr8:139885921 [GRCh38]
Chr8:140898165 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.166_186dup (p.Gly56_His62dup) duplication History of neurodevelopmental disorder [RCV000716597]|Mental retardation, autosomal recessive 13 [RCV001264806]|not provided [RCV000959043] Chr8:140458378..140458379 [GRCh38]
Chr8:141468477..141468478 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.1881C>T (p.Phe627=) single nucleotide variant History of neurodevelopmental disorder [RCV000717705] Chr8:140287708 [GRCh38]
Chr8:141297807 [GRCh37]
Chr8:8q24.3
likely benign
NM_031466.7(TRAPPC9):c.187A>G (p.Arg63Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000715845]|not provided [RCV000880267] Chr8:140458378 [GRCh38]
Chr8:141468477 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.2772C>T (p.Ser924=) single nucleotide variant History of neurodevelopmental disorder [RCV000717658]|not provided [RCV000904977] Chr8:139988764 [GRCh38]
Chr8:140998972 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1870G>A (p.Gly624Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000718398] Chr8:140287719 [GRCh38]
Chr8:141297818 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.6C>T (p.Ser2=) single nucleotide variant History of neurodevelopmental disorder [RCV000718914]|not provided [RCV000899863] Chr8:140451368 [GRCh38]
Chr8:141461467 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3220A>G (p.Asn1074Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000719262] Chr8:139732038 [GRCh38]
Chr8:140744281 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2871G>A (p.Lys957=) single nucleotide variant History of neurodevelopmental disorder [RCV000719396]|not provided [RCV000907351] Chr8:139910240 [GRCh38]
Chr8:140922484 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.1184A>G (p.Tyr395Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000718654] Chr8:140371131 [GRCh38]
Chr8:141381230 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000716426]|not provided [RCV000881433] Chr8:140451367 [GRCh38]
Chr8:141461466 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.3078A>G (p.Pro1026=) single nucleotide variant History of neurodevelopmental disorder [RCV000718952]|not provided [RCV000896019] Chr8:139732180 [GRCh38]
Chr8:140744423 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.198C>T (p.Asn66=) single nucleotide variant History of neurodevelopmental disorder [RCV000719107]|not provided [RCV000900305] Chr8:140451176 [GRCh38]
Chr8:141461275 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_001160372.4(TRAPPC9):c.3147C>T (p.Asn1049=) single nucleotide variant History of neurodevelopmental disorder [RCV000719233] Chr8:139732111 [GRCh38]
Chr8:140744354 [GRCh37]
Chr8:8q24.3
likely benign
NM_031466.7(TRAPPC9):c.189G>A (p.Arg63=) single nucleotide variant History of neurodevelopmental disorder [RCV000719511] Chr8:140458376 [GRCh38]
Chr8:141468475 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.76G>A (p.Val26Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000718094] Chr8:140451298 [GRCh38]
Chr8:141461397 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.7(TRAPPC9):c.161G>T (p.Ser54Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000718243] Chr8:140458404 [GRCh38]
Chr8:141468503 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter) single nucleotide variant History of neurodevelopmental disorder [RCV000719261]|Mental retardation, autosomal recessive 13 [RCV001333294] Chr8:139732033 [GRCh38]
Chr8:140744276 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
NM_001160372.4(TRAPPC9):c.1196G>A (p.Gly399Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000719228]|not provided [RCV001324228] Chr8:140371119 [GRCh38]
Chr8:141381218 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3088G>A (p.Glu1030Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000719414] Chr8:139732170 [GRCh38]
Chr8:140744413 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.11:g.(?_140417391)_(140444832_?)del deletion Schizophrenia [RCV000754338] Chr8:140417391..140444832 [GRCh38]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:140893978-141050020)x3 copy number gain not provided [RCV000754755] Chr8:140893978..141050020 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3438G>A (p.Ala1146=) single nucleotide variant not provided [RCV000936151] Chr8:139731070 [GRCh38]
Chr8:140743313 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3213C>T (p.Gly1071=) single nucleotide variant not provided [RCV000898496] Chr8:139732045 [GRCh38]
Chr8:140744288 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3125G>A (p.Arg1042His) single nucleotide variant not provided [RCV000900728] Chr8:139732133 [GRCh38]
Chr8:140744376 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.471C>T (p.Ile157=) single nucleotide variant not provided [RCV000900845] Chr8:140450903 [GRCh38]
Chr8:141461002 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1488G>T (p.Ser496=) single nucleotide variant not provided [RCV000905261] Chr8:140360057 [GRCh38]
Chr8:141370156 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1533G>C (p.Thr511=) single nucleotide variant not provided [RCV000983478] Chr8:140311337 [GRCh38]
Chr8:141321436 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.584+1G>A single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000779552] Chr8:140450789 [GRCh38]
Chr8:141460888 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter) single nucleotide variant Intellectual disability [RCV000856708] Chr8:140221524 [GRCh38]
Chr8:141231623 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.2799T>C (p.Gly933=) single nucleotide variant not provided [RCV000948182] Chr8:139988737 [GRCh38]
Chr8:140998945 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.2991G>A (p.Ala997=) single nucleotide variant not provided [RCV000908625] Chr8:139885943 [GRCh38]
Chr8:140898187 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3300G>A (p.Ser1100=) single nucleotide variant not provided [RCV000908802] Chr8:139731208 [GRCh38]
Chr8:140743451 [GRCh37]
Chr8:8q24.3
likely benign
NM_031466.8(TRAPPC9):c.-61C>T single nucleotide variant not provided [RCV000924821] Chr8:140458331 [GRCh38]
Chr8:141468430 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1830G>A (p.Pro610=) single nucleotide variant not provided [RCV000917339] Chr8:140291017 [GRCh38]
Chr8:141301116 [GRCh37]
Chr8:8q24.3
likely benign
NM_031466.8(TRAPPC9):c.-223A>T single nucleotide variant not provided [RCV000977786] Chr8:140458493 [GRCh38]
Chr8:141468592 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2757C>T (p.Thr919=) single nucleotide variant not provided [RCV000895563] Chr8:139988779 [GRCh38]
Chr8:140998987 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3087C>T (p.Arg1029=) single nucleotide variant not provided [RCV000895011] Chr8:139732171 [GRCh38]
Chr8:140744414 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_001160372.4(TRAPPC9):c.1311C>T (p.Pro437=) single nucleotide variant not provided [RCV000962359] Chr8:140371004 [GRCh38]
Chr8:141381103 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.564A>G (p.Val188=) single nucleotide variant not provided [RCV000891880] Chr8:140450810 [GRCh38]
Chr8:141460909 [GRCh37]
Chr8:8q24.3
likely benign
Single allele duplication not provided [RCV000844900] Chr8:141081122..141623752 [GRCh37]
Chr8:8q24.3
not provided
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141431936-141542147)x3 copy number gain not provided [RCV000846800] Chr8:141431936..141542147 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141270416-141289943)x1 copy number loss not provided [RCV000849001] Chr8:141270416..141289943 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.943_944del (p.Lys315fs) deletion not provided [RCV000999080] Chr8:140405641..140405642 [GRCh38]
Chr8:141415740..141415741 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141081122-141623752)x3 copy number gain not provided [RCV000846830] Chr8:141081122..141623752 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1496-3C>T single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001159506] Chr8:140311377 [GRCh38]
Chr8:141321476 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1098A>G (p.Glu366=) single nucleotide variant not provided [RCV000909029] Chr8:140397656 [GRCh38]
Chr8:141407755 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1317C>T (p.Tyr439=) single nucleotide variant not provided [RCV000909709] Chr8:140370998 [GRCh38]
Chr8:141381097 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3162C>T (p.Ser1054=) single nucleotide variant not provided [RCV000955190] Chr8:139732096 [GRCh38]
Chr8:140744339 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.1768+10C>T single nucleotide variant not provided [RCV000901012] Chr8:140300459 [GRCh38]
Chr8:141310558 [GRCh37]
Chr8:8q24.3
likely benign
NM_031466.8(TRAPPC9):c.-256G>A single nucleotide variant not provided [RCV000936951] Chr8:140458526 [GRCh38]
Chr8:141468625 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.624C>T (p.His208=) single nucleotide variant not provided [RCV000919827] Chr8:140439158 [GRCh38]
Chr8:141449257 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.978G>A (p.Lys326=) single nucleotide variant not provided [RCV000976082] Chr8:140405607 [GRCh38]
Chr8:141415706 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.2853G>A (p.Pro951=) single nucleotide variant not provided [RCV000907611] Chr8:139910258 [GRCh38]
Chr8:140922502 [GRCh37]
Chr8:8q24.3
likely benign
NM_001160372.4(TRAPPC9):c.3280-8C>G single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001159305] Chr8:139731236 [GRCh38]
Chr8:140743479 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2556+7T>G single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001159400] Chr8:140221452 [GRCh38]
Chr8:141231551 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2079G>A (p.Ala693=) single nucleotide variant not provided [RCV000912808] Chr8:140283924 [GRCh38]
Chr8:141294023 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.1215G>A (p.Ala405=) single nucleotide variant not provided [RCV000913566] Chr8:140371100 [GRCh38]
Chr8:141381199 [GRCh37]
Chr8:8q24.3
benign
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV000985089] Chr8:139910221 [GRCh38]
Chr8:140922465 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.2091G>A (p.Leu697=) single nucleotide variant not provided [RCV000934441] Chr8:140283912 [GRCh38]
Chr8:141294011 [GRCh37]
Chr8:8q24.3
likely benign
NM_031466.8(TRAPPC9):c.-205G>T single nucleotide variant not provided [RCV000912460] Chr8:140458475 [GRCh38]
Chr8:141468574 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:140699041-141497553)x3 copy number gain not provided [RCV001006149] Chr8:140699041..141497553 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_031466.8(TRAPPC9):c.-125_-124insTACCGTGAGGGTCACGGGGG insertion not provided [RCV001009076] Chr8:140458394..140458395 [GRCh38]
Chr8:141468493..141468494 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.142del (p.Asp48fs) deletion not provided [RCV001092152] Chr8:140451232 [GRCh38]
Chr8:141461331 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:140852548-140953922) copy number loss Mental retardation, autosomal recessive 13 [RCV001195117] Chr8:140852548..140953922 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.3055+11G>A single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001160670] Chr8:139885868 [GRCh38]
Chr8:140898112 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141016802-141446313)x3 copy number gain not provided [RCV001259510] Chr8:141016802..141446313 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.814C>A (p.Gln272Lys) single nucleotide variant not provided [RCV001255093] Chr8:140435157 [GRCh38]
Chr8:141445256 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001255732] Chr8:139910191 [GRCh38]
Chr8:140922435 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs) duplication Mental retardation, autosomal recessive 13 [RCV001255740] Chr8:140300561..140300562 [GRCh38]
Chr8:141310660..141310661 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs) deletion Inborn genetic diseases [RCV001267079] Chr8:139988807 [GRCh38]
Chr8:140999015 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) single nucleotide variant Intellectual disability [RCV001260866]|Mental retardation, autosomal recessive 13 [RCV001328632] Chr8:140451223 [GRCh38]
Chr8:141461322 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
GRCh37/hg19 8q24.3(chr8:141255310-141355635)x1 copy number loss not provided [RCV001259508] Chr8:141255310..141355635 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.19A>G (p.Met7Val) single nucleotide variant not provided [RCV001256158] Chr8:140451355 [GRCh38]
Chr8:141461454 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001330394] Chr8:140287637 [GRCh38]
Chr8:141297736 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2278+2T>C single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001336729] Chr8:140275656 [GRCh38]
Chr8:141285755 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001336734] Chr8:139732121 [GRCh38]
Chr8:140744364 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001330395] Chr8:139988741 [GRCh38]
Chr8:140998949 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001336732] Chr8:139885887 [GRCh38]
Chr8:140898131 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001328633] Chr8:140451208 [GRCh38]
Chr8:141461307 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001336728] Chr8:140300612 [GRCh38]
Chr8:141310711 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) single nucleotide variant Mental retardation, autosomal recessive 13 [RCV001336726] Chr8:140371005 [GRCh38]
Chr8:141381104 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30832 AgrOrtholog
COSMIC TRAPPC9 COSMIC
Ensembl Genes ENSG00000167632 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000405060 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430116 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000488007 UniProtKB/TrEMBL
  ENSP00000498020 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000438773 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520857 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000634178 UniProtKB/TrEMBL
  ENST00000648948 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000167632 GTEx
HGNC ID HGNC:30832 ENTREZGENE
Human Proteome Map TRAPPC9 Human Proteome Map
InterPro TRAPP_II_complex_Trs120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83696 UniProtKB/Swiss-Prot
NCBI Gene 83696 ENTREZGENE
OMIM 611966 OMIM
  613192 OMIM
PANTHER PTHR21512 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TRAPPC9-Trs120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162406921 PharmGKB
UniProt A0A0J9YWK7_HUMAN UniProtKB/TrEMBL
  H0YBR0_HUMAN UniProtKB/TrEMBL
  Q96Q05 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q4VTT3 UniProtKB/Swiss-Prot
  Q658K7 UniProtKB/Swiss-Prot
  Q6P149 UniProtKB/Swiss-Prot
  Q6ZQT3 UniProtKB/Swiss-Prot
  Q7L5C4 UniProtKB/Swiss-Prot
  Q86Y21 UniProtKB/Swiss-Prot
  Q96SL2 UniProtKB/Swiss-Prot
  Q9BQA2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-15 TRAPPC9  trafficking protein particle complex subunit 9  TRAPPC9  trafficking protein particle complex 9  Symbol and/or name change 19259463 PROVISIONAL