RAB7A (RAB7A, member RAS oncogene family) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: RAB7A (RAB7A, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB7A
Name: RAB7A, member RAS oncogene family
RGD ID: 1351789
HGNC Page HGNC:9788
Description: Enables GTPase activity; guanyl ribonucleotide binding activity; and retromer complex binding activity. Involved in several processes, including endosomal transport; phagosome maturation; and regulation of exosomal secretion. Located in several cellular components, including cytoplasmic vesicle; lysosome; and retromer complex. Implicated in Charcot-Marie-Tooth disease type 2B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Charcot-Marie-Tooth neuropathy 2B; CMT2B; FLJ20819; PRO2706; RAB7; RAB7, member RAS oncogene family; Ras-associated protein RAB7; ras-related protein Rab-7a
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
GRCh383128,726,183 - 128,814,798 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3128,693,669 - 128,825,942 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,445,026 - 128,533,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363129,927,669 - 130,016,331 (+)NCBINCBI36Build 36hg18NCBI36
Build 343129,927,676 - 130,016,339NCBI
Celera3126,877,121 - 126,965,892 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3125,832,324 - 125,921,106 (+)NCBIHuRef
CHM1_13128,408,152 - 128,496,845 (+)NCBICHM1_1
T2T-CHM13v2.03131,470,839 - 131,559,516 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (EXP)
alginic acid  (ISO)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
buspirone  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (ISO)
chloropicrin  (EXP)
cholic acid  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP,ISO)
ivermectin  (EXP)
lead(0)  (EXP)
Maduramicin  (ISO)
melatonin  (ISO)
Mesaconitine  (ISO)
methamphetamine  (ISO)
methidathion  (ISO)
methoxychlor  (ISO)
N-acetyl-L-cysteine  (ISO)
N-hydroxy-PhIP  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
piroxicam  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
taurocholic acid  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Overview of macroautophagy regulation in mammalian cells. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2115402   PMID:8125298   PMID:8586647   PMID:8702787   PMID:8910576   PMID:8954989   PMID:9126495   PMID:9428630   PMID:9563513   PMID:9585432   PMID:9792283   PMID:9918381  
PMID:10329441   PMID:10491170   PMID:10679007   PMID:11141079   PMID:11179213   PMID:11448994   PMID:11591706   PMID:11675392   PMID:12034881   PMID:12054610   PMID:12071695   PMID:12477932  
PMID:12545426   PMID:12576024   PMID:12643545   PMID:12850305   PMID:12944476   PMID:12972561   PMID:14617358   PMID:14644159   PMID:14668488   PMID:14702039   PMID:14998988   PMID:15078902  
PMID:15099588   PMID:15186776   PMID:15340014   PMID:15455439   PMID:15471887   PMID:15489334   PMID:15592455   PMID:15681833   PMID:15809346   PMID:15933719   PMID:15996637   PMID:16176980  
PMID:16282324   PMID:16344560   PMID:16396496   PMID:16631113   PMID:16925951   PMID:16965270   PMID:17010938   PMID:17081065   PMID:17353931   PMID:17540176   PMID:17625594   PMID:18022941  
PMID:18029348   PMID:18039930   PMID:18272684   PMID:18501189   PMID:18552835   PMID:18787122   PMID:18955491   PMID:18974300   PMID:19056867   PMID:19322201   PMID:19372461   PMID:19392663  
PMID:19451649   PMID:19460345   PMID:19531583   PMID:19564404   PMID:19580780   PMID:19620308   PMID:19651702   PMID:19738201   PMID:19786618   PMID:19956673   PMID:20012524   PMID:20028791  
PMID:20100911   PMID:20301462   PMID:20301532   PMID:20363736   PMID:20458337   PMID:20459747   PMID:20472552   PMID:20709679   PMID:20720181   PMID:20847427   PMID:20943774   PMID:20974968  
PMID:21255211   PMID:21438969   PMID:21669283   PMID:21795389   PMID:21800051   PMID:21873635   PMID:22042847   PMID:22072966   PMID:22115783   PMID:22119785   PMID:22261744   PMID:22304920  
PMID:22431521   PMID:22496312   PMID:22496373   PMID:22638108   PMID:22660413   PMID:22673115   PMID:22768177   PMID:22939629   PMID:23179371   PMID:23188822   PMID:23376485   PMID:23383273  
PMID:23533145   PMID:23536683   PMID:23562278   PMID:23733193   PMID:23824909   PMID:23874603   PMID:24173214   PMID:24332808   PMID:24344282   PMID:24457600   PMID:24498653   PMID:24505328  
PMID:24521780   PMID:24619419   PMID:24662486   PMID:24711643   PMID:24920821   PMID:25080504   PMID:25180605   PMID:25192599   PMID:25336651   PMID:25367362   PMID:25416956   PMID:25445562  
PMID:25496667   PMID:25500191   PMID:25533187   PMID:25544563   PMID:25565581   PMID:25566515   PMID:25770103   PMID:25908847   PMID:26038114   PMID:26344197   PMID:26348397   PMID:26355680  
PMID:26399387   PMID:26416964   PMID:26496610   PMID:26541268   PMID:26638075   PMID:26641092   PMID:26911690   PMID:27070490   PMID:27229929   PMID:27291868   PMID:27342126   PMID:27375898  
PMID:27378698   PMID:27383256   PMID:27385586   PMID:27576135   PMID:27588602   PMID:27684187   PMID:27764233   PMID:27777970   PMID:27791088   PMID:27888097   PMID:28117675   PMID:28186131  
PMID:28199315   PMID:28222213   PMID:28264927   PMID:28302793   PMID:28325809   PMID:28336235   PMID:28415797   PMID:28514442   PMID:28600323   PMID:28611215   PMID:28634871   PMID:28656962  
PMID:28675297   PMID:28685749   PMID:28716909   PMID:28860274   PMID:28869606   PMID:28977666   PMID:29099291   PMID:29117863   PMID:29128334   PMID:29158324   PMID:29180619   PMID:29360040  
PMID:29364868   PMID:29395067   PMID:29437530   PMID:29467282   PMID:29505800   PMID:29507755   PMID:29514857   PMID:29564676   PMID:29568061   PMID:29769411   PMID:29859188   PMID:29893854  
PMID:29955894   PMID:30012887   PMID:30100068   PMID:30323948   PMID:30471916   PMID:30559450   PMID:30575818   PMID:30616015   PMID:30627666   PMID:30639242   PMID:30709847   PMID:30721249  
PMID:30765602   PMID:30808710   PMID:30816458   PMID:30918899   PMID:30926795   PMID:30948266   PMID:31046837   PMID:31056421   PMID:31079930   PMID:31085713   PMID:31470122   PMID:31536960  
PMID:31544984   PMID:31578588   PMID:31586073   PMID:31588230   PMID:31594818   PMID:31600783   PMID:31619485   PMID:31636202   PMID:31662325   PMID:31664461   PMID:31723608   PMID:31871319  
PMID:31950832   PMID:31995728   PMID:32176739   PMID:32280996   PMID:32326241   PMID:32353859   PMID:32423001   PMID:32513696   PMID:32521275   PMID:32552912   PMID:32591494   PMID:32632011  
PMID:32687490   PMID:32707033   PMID:32788342   PMID:32814053   PMID:32877691   PMID:32913203   PMID:32941674   PMID:32949647   PMID:33060197   PMID:33144569   PMID:33147445   PMID:33226137  
PMID:33239621   PMID:33422265   PMID:33452816   PMID:33545068   PMID:33766124   PMID:33845483   PMID:33846303   PMID:33859171   PMID:33947832   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34225486   PMID:34316702   PMID:34383013   PMID:34432599   PMID:34551306   PMID:34597346   PMID:34695807   PMID:34709727   PMID:34732716   PMID:35063084   PMID:35140242   PMID:35182466  
PMID:35256949   PMID:35271311   PMID:35343654   PMID:35373701   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35562734   PMID:35637478   PMID:35662671   PMID:35831314  
PMID:35887194   PMID:35906200   PMID:35944360   PMID:35993436   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36225252   PMID:36237976   PMID:36244648   PMID:36424410   PMID:36476874  
PMID:36517590   PMID:36538041   PMID:36590901   PMID:36610398   PMID:36810288   PMID:37044053   PMID:37087591   PMID:37232246   PMID:37616343   PMID:37774976   PMID:37827155   PMID:38117590  
PMID:38172120  


Genomics

Comparative Map Data
RAB7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383128,726,183 - 128,814,798 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3128,693,669 - 128,825,942 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,445,026 - 128,533,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363129,927,669 - 130,016,331 (+)NCBINCBI36Build 36hg18NCBI36
Build 343129,927,676 - 130,016,339NCBI
Celera3126,877,121 - 126,965,892 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3125,832,324 - 125,921,106 (+)NCBIHuRef
CHM1_13128,408,152 - 128,496,845 (+)NCBICHM1_1
T2T-CHM13v2.03131,470,839 - 131,559,516 (+)NCBIT2T-CHM13v2.0
Rab7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39687,976,088 - 88,022,252 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl687,976,088 - 88,022,252 (-)EnsemblGRCm39 Ensembl
GRCm38687,999,106 - 88,045,270 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl687,999,106 - 88,045,270 (-)EnsemblGRCm38mm10GRCm38
MGSCv37687,950,429 - 87,963,684 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36687,964,764 - 88,010,861 (-)NCBIMGSCv36mm8
Celera689,937,361 - 89,950,664 (-)NCBICelera
Cytogenetic Map6D1NCBI
cM Map639.13NCBI
Rab7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84122,019,281 - 122,068,067 (-)NCBIGRCr8
mRatBN7.24120,461,966 - 120,510,756 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4120,461,963 - 120,506,889 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4125,934,506 - 125,979,324 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04121,709,288 - 121,754,108 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04120,333,533 - 120,378,346 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04119,910,461 - 119,963,065 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4119,910,478 - 119,959,173 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04185,158,344 - 185,209,333 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44122,202,685 - 122,220,649 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14122,447,168 - 122,465,130 (-)NCBI
Celera4109,421,363 - 109,466,326 (-)NCBICelera
Cytogenetic Map4q34NCBI
Rab7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542915,103,792 - 15,167,498 (-)NCBIChiLan1.0ChiLan1.0
RAB7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22126,658,777 - 126,750,537 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13126,663,500 - 126,755,260 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03125,784,604 - 125,873,051 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,214,246 - 133,233,403 (+)NCBIpanpan1.1PanPan1.1panPan2
RAB7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1202,704,716 - 2,776,518 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl202,704,752 - 2,826,636 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha202,792,411 - 2,812,258 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0202,724,992 - 2,797,106 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl202,725,012 - 2,798,427 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1202,496,060 - 2,515,882 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0202,822,274 - 2,842,051 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0202,783,313 - 2,803,191 (+)NCBIUU_Cfam_GSD_1.0
Rab7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494220,255,730 - 20,263,118 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936798296,066 - 305,176 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936798297,600 - 304,929 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,777,424 - 71,852,694 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11371,777,422 - 71,886,758 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21379,450,127 - 79,456,601 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAB7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12252,231,481 - 52,309,276 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2252,230,835 - 52,309,306 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,053,255 - 114,130,507 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rab7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462504256,517 - 112,612 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462504256,509 - 112,519 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAB7A
177 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000542314] Chr3:128813375 [GRCh38]
Chr3:128532218 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789555]|Charcot-Marie-Tooth disease type 2B [RCV000007770]|not provided [RCV000059221] Chr3:128806576 [GRCh38]
Chr3:128525419 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance|not provided
NM_004637.6(RAB7A):c.484G>A (p.Val162Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789554]|Charcot-Marie-Tooth disease type 2B [RCV000007771]|not provided [RCV000059224] Chr3:128807627 [GRCh38]
Chr3:128526470 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance|not provided
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789552]|Charcot-Marie-Tooth disease type 2B [RCV000007772]|not provided [RCV000059223] Chr3:128807625 [GRCh38]
Chr3:128526468 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance|not provided
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789553]|Charcot-Marie-Tooth disease type 2B [RCV000007773]|not provided [RCV000059222] Chr3:128807614 [GRCh38]
Chr3:128526457 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance|not provided
GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3 copy number gain See cases [RCV000050795] Chr3:128601065..129182579 [GRCh38]
Chr3:128319908..128901422 [GRCh37]
Chr3:129802598..130384112 [NCBI36]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3 copy number gain See cases [RCV000051532] Chr3:128735053..128967179 [GRCh38]
Chr3:128453896..128686022 [GRCh37]
Chr3:129936586..130168712 [NCBI36]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.544C>G (p.Leu182Val) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002286622] Chr3:128813342 [GRCh38]
Chr3:128532185 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.-29G>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000294569]|not specified [RCV000127681] Chr3:128726339 [GRCh38]
Chr3:128445182 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173973]|Charcot-Marie-Tooth disease type 2B [RCV000538645]|not specified [RCV000127682] Chr3:128806410 [GRCh38]
Chr3:128525253 [GRCh37]
Chr3:3q21.3		 benign|likely benign
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1 copy number loss See cases [RCV000137444] Chr3:126797420..128946623 [GRCh38]
Chr3:126516263..128665466 [GRCh37]
Chr3:127998953..130148156 [NCBI36]
Chr3:3q21.3		 pathogenic|uncertain significance
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q21.3(chr3:128640600-128784746)x3 copy number gain See cases [RCV000140512] Chr3:128640600..128784746 [GRCh38]
Chr3:128359443..128503589 [GRCh37]
Chr3:129842133..129986279 [NCBI36]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
NM_004637.5(RAB7A):c.-215C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000259719] Chr3:128726153 [GRCh38]
Chr3:128444996 [GRCh37]
Chr3:3q21.3		 benign|uncertain significance
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172788]|Charcot-Marie-Tooth disease type 2B [RCV001079171]|Inborn genetic diseases [RCV002328776]|RAB7A-related condition [RCV003930112]|not provided [RCV000712886]|not specified [RCV000334464] Chr3:128807566 [GRCh38]
Chr3:128526409 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000698626]|Inborn genetic diseases [RCV002401921]|not provided [RCV000235278] Chr3:128798056 [GRCh38]
Chr3:128516899 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*997T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000281604] Chr3:128814419 [GRCh38]
Chr3:128533262 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000863484]|Inborn genetic diseases [RCV002338942]|not provided [RCV001718728] Chr3:128807638 [GRCh38]
Chr3:128526481 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.-115C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000274846] Chr3:128726253 [GRCh38]
Chr3:128445096 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.*189A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000277474]|not provided [RCV001718729] Chr3:128813611 [GRCh38]
Chr3:128532454 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.*206G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000314361]|not provided [RCV001683368] Chr3:128813628 [GRCh38]
Chr3:128532471 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.*1029A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000397473] Chr3:128814451 [GRCh38]
Chr3:128533294 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*181G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000398805] Chr3:128813603 [GRCh38]
Chr3:128532446 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*85A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000399701] Chr3:128813507 [GRCh38]
Chr3:128532350 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*1301A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000400359] Chr3:128814723 [GRCh38]
Chr3:128533566 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*997T>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000336842] Chr3:128814419 [GRCh38]
Chr3:128533262 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*863C>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000380515] Chr3:128814285 [GRCh38]
Chr3:128533128 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.87G>A (p.Val29=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173967]|Charcot-Marie-Tooth disease type 2B [RCV001087702]|Inborn genetic diseases [RCV002446600]|RAB7A-related condition [RCV003932385]|not provided [RCV000712887] Chr3:128797976 [GRCh38]
Chr3:128516819 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000868648]|Inborn genetic diseases [RCV002348098]|RAB7A-related condition [RCV003922501] Chr3:128813350 [GRCh38]
Chr3:128532193 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_004637.6(RAB7A):c.*1374G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000307747] Chr3:128814796 [GRCh38]
Chr3:128533639 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000346174] Chr3:128806468 [GRCh38]
Chr3:128525311 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*183A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000367383]|not provided [RCV001584050] Chr3:128813605 [GRCh38]
Chr3:128532448 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_004637.6(RAB7A):c.*1142G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000311165] Chr3:128814564 [GRCh38]
Chr3:128533407 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*625T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000329491] Chr3:128814047 [GRCh38]
Chr3:128532890 [GRCh37]
Chr3:3q21.3		 benign|uncertain significance
NM_004637.6(RAB7A):c.-97C>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000330009]|not provided [RCV001559105] Chr3:128726271 [GRCh38]
Chr3:128445114 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.*163T>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000297796] Chr3:128813585 [GRCh38]
Chr3:128532428 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.*473G>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000269793] Chr3:128813895 [GRCh38]
Chr3:128532738 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*702T>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000266079] Chr3:128814124 [GRCh38]
Chr3:128532967 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.54-207C>T single nucleotide variant not provided [RCV001574499] Chr3:128797736 [GRCh38]
Chr3:128516579 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*421_*423del deletion Charcot-Marie-Tooth disease type 2 [RCV000364403] Chr3:128813841..128813843 [GRCh38]
Chr3:128532684..128532686 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*700C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000383913] Chr3:128814122 [GRCh38]
Chr3:128532965 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.5(RAB7A):c.-204G>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000319421] Chr3:128726164 [GRCh38]
Chr3:128445007 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*929A>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000335533] Chr3:128814351 [GRCh38]
Chr3:128533194 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002528236]|not provided [RCV000521666] Chr3:128807649 [GRCh38]
Chr3:128526492 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*922A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000285197] Chr3:128814344 [GRCh38]
Chr3:128533187 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*801dup duplication Charcot-Marie-Tooth disease type 2 [RCV000321185] Chr3:128814222..128814223 [GRCh38]
Chr3:128533065..128533066 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.-70CTC[2] microsatellite Charcot-Marie-Tooth disease type 2 [RCV000388938]|not provided [RCV003422330] Chr3:128726298..128726300 [GRCh38]
Chr3:128445141..128445143 [GRCh37]
Chr3:3q21.3		 benign|uncertain significance
NM_004637.6(RAB7A):c.*1161C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000351946] Chr3:128814583 [GRCh38]
Chr3:128533426 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*997del deletion Charcot-Marie-Tooth disease type 2 [RCV000371470] Chr3:128814412 [GRCh38]
Chr3:128533255 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*165A>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000338755] Chr3:128813587 [GRCh38]
Chr3:128532430 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.5(RAB7A):c.-209_-204dup duplication Charcot-Marie-Tooth disease type 2 [RCV000354507]|not provided [RCV003422329] Chr3:128726153..128726154 [GRCh38]
Chr3:128444996..128444997 [GRCh37]
Chr3:3q21.3		 benign|uncertain significance
NM_004637.6(RAB7A):c.-154G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000355514] Chr3:128726214 [GRCh38]
Chr3:128445057 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.-18A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000326107]|RAB7A-related condition [RCV003983025]|not specified [RCV000607131] Chr3:128726350 [GRCh38]
Chr3:128445193 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_004637.6(RAB7A):c.*182CA[9] microsatellite Charcot-Marie-Tooth disease type 2 [RCV000312729]|not provided [RCV001574657] Chr3:128813603..128813604 [GRCh38]
Chr3:128532446..128532447 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_004637.6(RAB7A):c.414G>T (p.Arg138=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000639625]|Inborn genetic diseases [RCV002331162] Chr3:128807557 [GRCh38]
Chr3:128526400 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.54-17T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002059843]|not specified [RCV000442008] Chr3:128797926 [GRCh38]
Chr3:128516769 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.-6T>C single nucleotide variant not specified [RCV000439976] Chr3:128795362 [GRCh38]
Chr3:128514205 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.183A>C (p.Ile61=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173972]|Charcot-Marie-Tooth disease type 2B [RCV001447351]|Inborn genetic diseases [RCV002411327]|not specified [RCV000422555] Chr3:128806374 [GRCh38]
Chr3:128525217 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.213G>A (p.Gln71=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000639626]|Inborn genetic diseases [RCV002429415]|not provided [RCV001721321] Chr3:128806404 [GRCh38]
Chr3:128525247 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_004637.6(RAB7A):c.21G>A (p.Val7=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173966]|Charcot-Marie-Tooth disease type 2B [RCV000553425]|Inborn genetic diseases [RCV002431604]|RAB7A-related condition [RCV003925638]|not provided [RCV001571270] Chr3:128795388 [GRCh38]
Chr3:128514231 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.-8-12T>C single nucleotide variant not specified [RCV000420565] Chr3:128795348 [GRCh38]
Chr3:128514191 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000639624]|not provided [RCV002473082] Chr3:128813349 [GRCh38]
Chr3:128532192 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_004637.6(RAB7A):c.321C>T (p.Leu107=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173971]|Charcot-Marie-Tooth disease type 2B [RCV000639627]|Inborn genetic diseases [RCV002325242] Chr3:128806512 [GRCh38]
Chr3:128525355 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.180+9A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173970]|Charcot-Marie-Tooth disease type 2B [RCV000528477]|not provided [RCV001289162]|not specified [RCV000601767] Chr3:128798078 [GRCh38]
Chr3:128516921 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000695902]|Inborn genetic diseases [RCV002343491] Chr3:128813366 [GRCh38]
Chr3:128532209 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_004637.6(RAB7A):c.53+75G>A single nucleotide variant not provided [RCV001583083] Chr3:128795495 [GRCh38]
Chr3:128514338 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*181_*194del deletion not provided [RCV001609595] Chr3:128813590..128813603 [GRCh38]
Chr3:128532433..128532446 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.528+9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001445254] Chr3:128807680 [GRCh38]
Chr3:128526523 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.541del (p.Glu181fs) deletion Sodium channelopathy-related small fiber neuropathy [RCV000857131] Chr3:128813338 [GRCh38]
Chr3:128532181 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.181-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001039084] Chr3:128806369 [GRCh38]
Chr3:128525212 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001049977] Chr3:128807614 [GRCh38]
Chr3:128526457 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_004637.6(RAB7A):c.148G>A (p.Val50Met) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001035500] Chr3:128798037 [GRCh38]
Chr3:128516880 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.357A>G (p.Pro119=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001403684] Chr3:128806548 [GRCh38]
Chr3:128525391 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.603G>A (p.Ser201=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000874356] Chr3:128813401 [GRCh38]
Chr3:128532244 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.181-4A>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001400682] Chr3:128806368 [GRCh38]
Chr3:128525211 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.54-334A>G single nucleotide variant not provided [RCV000832737] Chr3:128797609 [GRCh38]
Chr3:128516452 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.53+233T>C single nucleotide variant not provided [RCV000837813] Chr3:128795653 [GRCh38]
Chr3:128514496 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-49G>T single nucleotide variant not provided [RCV000837814] Chr3:128807494 [GRCh38]
Chr3:128526337 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001858754]|not provided [RCV000992739] Chr3:128807609 [GRCh38]
Chr3:128526452 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NC_000003.11:g.(?_128514201)_(128631967_?)dup duplication Charcot-Marie-Tooth disease type 2B [RCV000823262] Chr3:128795358..128913124 [GRCh38]
Chr3:128514201..128631967 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.331del (p.Ser111fs) deletion Charcot-Marie-Tooth disease [RCV000857130] Chr3:128806522 [GRCh38]
Chr3:128525365 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.400-48C>G single nucleotide variant not provided [RCV000837815] Chr3:128807495 [GRCh38]
Chr3:128526338 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.-8-280A>G single nucleotide variant not provided [RCV000830885] Chr3:128795080 [GRCh38]
Chr3:128513923 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.-8-142T>G single nucleotide variant not provided [RCV000833836] Chr3:128795218 [GRCh38]
Chr3:128514061 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.400-179A>G single nucleotide variant not provided [RCV000833837] Chr3:128807364 [GRCh38]
Chr3:128526207 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.181-270C>T single nucleotide variant not provided [RCV000831154] Chr3:128806102 [GRCh38]
Chr3:128524945 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789556]|Charcot-Marie-Tooth disease type 2B [RCV001386686] Chr3:128807625 [GRCh38]
Chr3:128526468 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_004637.6(RAB7A):c.180+7A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV000981526] Chr3:128798076 [GRCh38]
Chr3:128516919 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*402T>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001150937] Chr3:128813824 [GRCh38]
Chr3:128532667 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*274G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001147604] Chr3:128813696 [GRCh38]
Chr3:128532539 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*1344G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001147703] Chr3:128814766 [GRCh38]
Chr3:128533609 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.12:g.(?_128480999)_(128912627_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV001032428] Chr3:128199842..128631470 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_004637.6(RAB7A):c.79del (p.Gln27fs) deletion Sodium channelopathy-related small fiber neuropathy [RCV000857129] Chr3:128797967 [GRCh38]
Chr3:128516810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.6C>G (p.Thr2=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001441651] Chr3:128795373 [GRCh38]
Chr3:128514216 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173965] Chr3:128806522 [GRCh38]
Chr3:128525365 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*974A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144843] Chr3:128814396 [GRCh38]
Chr3:128533239 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001208352]|Inborn genetic diseases [RCV002356894] Chr3:128813387 [GRCh38]
Chr3:128532230 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*1343C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001147702] Chr3:128814765 [GRCh38]
Chr3:128533608 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.529-187T>A single nucleotide variant not provided [RCV001559836] Chr3:128813140 [GRCh38]
Chr3:128531983 [GRCh37]
Chr3:3q21.3		 likely benign
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance|no classifications from unflagged records
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541921] Chr3:127889037..128565901 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_004637.6(RAB7A):c.*1141C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001146811] Chr3:128814563 [GRCh38]
Chr3:128533406 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001202133] Chr3:128806568 [GRCh38]
Chr3:128525411 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001237164] Chr3:128807591 [GRCh38]
Chr3:128526434 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q21.3(chr3:128412318-128677197)x3 copy number gain not provided [RCV002472751] Chr3:128412318..128677197 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_004637.6(RAB7A):c.180+242A>C single nucleotide variant not provided [RCV001593693] Chr3:128798311 [GRCh38]
Chr3:128517154 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.529-249T>C single nucleotide variant not provided [RCV001581534] Chr3:128813078 [GRCh38]
Chr3:128531921 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.-9+220G>T single nucleotide variant not provided [RCV001658891] Chr3:128726579 [GRCh38]
Chr3:128445422 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*989C>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144844] Chr3:128814411 [GRCh38]
Chr3:128533254 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*908A>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144841] Chr3:128814330 [GRCh38]
Chr3:128533173 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*317A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001150936] Chr3:128813739 [GRCh38]
Chr3:128532582 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.-146G>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144733] Chr3:128726222 [GRCh38]
Chr3:128445065 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.54-15T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144735] Chr3:128797928 [GRCh38]
Chr3:128516771 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001043273] Chr3:128813388 [GRCh38]
Chr3:128532231 [GRCh37]
Chr3:3q21.3		 uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3		 pathogenic
NM_004637.6(RAB7A):c.399+276C>T single nucleotide variant not provided [RCV001645821] Chr3:128806866 [GRCh38]
Chr3:128525709 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.*846A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144840] Chr3:128814268 [GRCh38]
Chr3:128533111 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.*819C>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001150938] Chr3:128814241 [GRCh38]
Chr3:128533084 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*831A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001150939] Chr3:128814253 [GRCh38]
Chr3:128533096 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.400-17C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173968]|Charcot-Marie-Tooth disease type 2B [RCV002068103] Chr3:128807526 [GRCh38]
Chr3:128526369 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.529-11T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173969] Chr3:128813316 [GRCh38]
Chr3:128532159 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*1079C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001146810] Chr3:128814501 [GRCh38]
Chr3:128533344 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*1219C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001147701] Chr3:128814641 [GRCh38]
Chr3:128533484 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.12:g.(?_128795358)_(128813432_?)dup duplication Charcot-Marie-Tooth disease type 2B [RCV001033663] Chr3:128514201..128532275 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*956G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144842] Chr3:128814378 [GRCh38]
Chr3:128533221 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001050283] Chr3:128807625 [GRCh38]
Chr3:128526468 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.-61G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001144734] Chr3:128726307 [GRCh38]
Chr3:128445150 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001146704] Chr3:128807599 [GRCh38]
Chr3:128526442 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.*1026G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001146809] Chr3:128814448 [GRCh38]
Chr3:128533291 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*229C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001147603] Chr3:128813651 [GRCh38]
Chr3:128532494 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001314132] Chr3:128813331 [GRCh38]
Chr3:128532174 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001343529] Chr3:128807546 [GRCh38]
Chr3:128526389 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.503C>T (p.Thr168Met) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001351229] Chr3:128807646 [GRCh38]
Chr3:128526489 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_004637.6(RAB7A):c.504G>A (p.Thr168=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001392016] Chr3:128807647 [GRCh38]
Chr3:128526490 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001345681] Chr3:128807624 [GRCh38]
Chr3:128526467 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.391A>G (p.Asn131Asp) single nucleotide variant not provided [RCV001289163] Chr3:128806582 [GRCh38]
Chr3:128525425 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001366832] Chr3:128807610 [GRCh38]
Chr3:128526453 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.18A>G (p.Lys6=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001458537] Chr3:128795385 [GRCh38]
Chr3:128514228 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.603G>C (p.Ser201=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001456742] Chr3:128813401 [GRCh38]
Chr3:128532244 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001410402] Chr3:128813387 [GRCh38]
Chr3:128532230 [GRCh37]
Chr3:3q21.3		 likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
NM_004637.6(RAB7A):c.529-6G>A single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001473476] Chr3:128813321 [GRCh38]
Chr3:128532164 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.534G>A (p.Thr178=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001469352] Chr3:128813332 [GRCh38]
Chr3:128532175 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*165AC[9] microsatellite not provided [RCV001591628] Chr3:128813585..128813586 [GRCh38]
Chr3:128532428..128532429 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.*165AC[7] microsatellite not provided [RCV001585361] Chr3:128813586..128813587 [GRCh38]
Chr3:128532429..128532430 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.53+7T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001436155] Chr3:128795427 [GRCh38]
Chr3:128514270 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.205C>A (p.Arg69=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001464357] Chr3:128806396 [GRCh38]
Chr3:128525239 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.252C>T (p.Cys84=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001424263] Chr3:128806443 [GRCh38]
Chr3:128525286 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.531A>G (p.Glu177=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001450472] Chr3:128813329 [GRCh38]
Chr3:128532172 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-10C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001502825] Chr3:128807533 [GRCh38]
Chr3:128526376 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.-9+28G>T single nucleotide variant not provided [RCV002244355] Chr3:128726387 [GRCh38]
Chr3:128445230 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3q21.3(chr3:128163252-128660960)x3 copy number gain not provided [RCV001827975] Chr3:128163252..128660960 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002022525] Chr3:128813370 [GRCh38]
Chr3:128532213 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002002619] Chr3:128813390 [GRCh38]
Chr3:128532233 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001897271] Chr3:128813403 [GRCh38]
Chr3:128532246 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001877337] Chr3:128813400 [GRCh38]
Chr3:128532243 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.180+4A>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001979918] Chr3:128798073 [GRCh38]
Chr3:128516916 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001880646] Chr3:128807651 [GRCh38]
Chr3:128526494 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.152T>C (p.Met51Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV001973667] Chr3:128798041 [GRCh38]
Chr3:128516884 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002035514] Chr3:128807577 [GRCh38]
Chr3:128526420 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.174A>G (p.Thr58=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002110003] Chr3:128798063 [GRCh38]
Chr3:128516906 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.543G>A (p.Glu181=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002126743] Chr3:128813341 [GRCh38]
Chr3:128532184 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.399+19A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002192288] Chr3:128806609 [GRCh38]
Chr3:128525452 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.54-20T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002110357] Chr3:128797923 [GRCh38]
Chr3:128516766 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.375C>T (p.Asn125=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002113424] Chr3:128806566 [GRCh38]
Chr3:128525409 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.529-14G>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002098503] Chr3:128813313 [GRCh38]
Chr3:128532156 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.467C>T (p.Ala156Val) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003152851] Chr3:128807610 [GRCh38]
Chr3:128526453 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q21.3(chr3:128471824-128710382)x3 copy number gain not provided [RCV002475731] Chr3:128471824..128710382 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.591G>C (p.Arg197=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002617806] Chr3:128813389 [GRCh38]
Chr3:128532232 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.366G>T (p.Val122=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002636076] Chr3:128806557 [GRCh38]
Chr3:128525400 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-16C>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003076429] Chr3:128807527 [GRCh38]
Chr3:128526370 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-13CTT[2] microsatellite Charcot-Marie-Tooth disease type 2B [RCV002949670] Chr3:128807530..128807532 [GRCh38]
Chr3:128526373..128526375 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.74T>C (p.Met25Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002923143] Chr3:128797963 [GRCh38]
Chr3:128516806 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.54-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003082269] Chr3:128797934 [GRCh38]
Chr3:128516777 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.547T>A (p.Tyr183Asn) single nucleotide variant Inborn genetic diseases [RCV002803713] Chr3:128813345 [GRCh38]
Chr3:128532188 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.300T>C (p.Asp100=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002766824] Chr3:128806491 [GRCh38]
Chr3:128525334 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.528+20C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002741949] Chr3:128807691 [GRCh38]
Chr3:128526534 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-11T>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002939008] Chr3:128807532 [GRCh38]
Chr3:128526375 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.544C>A (p.Leu182Met) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002770361] Chr3:128813342 [GRCh38]
Chr3:128532185 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.57C>T (p.Val19=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002632176] Chr3:128797946 [GRCh38]
Chr3:128516789 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003778578]|Inborn genetic diseases [RCV002714314] Chr3:128813390 [GRCh38]
Chr3:128532233 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_004637.6(RAB7A):c.53+14G>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002632597] Chr3:128795434 [GRCh38]
Chr3:128514277 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV002584175] Chr3:128807632 [GRCh38]
Chr3:128526475 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003875665] Chr3:128813368 [GRCh38]
Chr3:128532211 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128445025)_(128533642_?)dup duplication not specified [RCV003479660] Chr3:128445025..128533642 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.605C>T (p.Ala202Val) single nucleotide variant not provided [RCV003482815] Chr3:128813403 [GRCh38]
Chr3:128532246 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.529-2097A>G single nucleotide variant not provided [RCV003457392] Chr3:128811230 [GRCh38]
Chr3:128530073 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.529-2154C>G single nucleotide variant not provided [RCV003427344] Chr3:128811173 [GRCh38]
Chr3:128530016 [GRCh37]
Chr3:3q21.3		 benign
NM_004637.6(RAB7A):c.529-20T>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003879661] Chr3:128813307 [GRCh38]
Chr3:128532150 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-15T>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003508348] Chr3:128807528 [GRCh38]
Chr3:128526371 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003507584] Chr3:128807607 [GRCh38]
Chr3:128526450 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.399+14A>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003508793] Chr3:128806604 [GRCh38]
Chr3:128525447 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.99C>T (p.Phe33=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003507660] Chr3:128797988 [GRCh38]
Chr3:128516831 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003849403] Chr3:128806542 [GRCh38]
Chr3:128525385 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.181-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003618720] Chr3:128806363 [GRCh38]
Chr3:128525206 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.53+9C>G single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003619010] Chr3:128795429 [GRCh38]
Chr3:128514272 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.400-6T>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003617615] Chr3:128807537 [GRCh38]
Chr3:128526380 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.151A>G (p.Met51Val) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003617309] Chr3:128798040 [GRCh38]
Chr3:128516883 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.294C>G (p.Thr98=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003618450] Chr3:128806485 [GRCh38]
Chr3:128525328 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.528+2dup duplication Charcot-Marie-Tooth disease type 2B [RCV003618743] Chr3:128807672..128807673 [GRCh38]
Chr3:128526515..128526516 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.138G>C (p.Leu46=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003617454] Chr3:128798027 [GRCh38]
Chr3:128516870 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003811227] Chr3:128797978 [GRCh38]
Chr3:128516821 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.621C>T (p.Cys207=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003618848] Chr3:128813419 [GRCh38]
Chr3:128532262 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.399+17A>C single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003617610] Chr3:128806607 [GRCh38]
Chr3:128525450 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003618608] Chr3:128806502 [GRCh38]
Chr3:128525345 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.399+12C>T single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003618877] Chr3:128806602 [GRCh38]
Chr3:128525445 [GRCh37]
Chr3:3q21.3		 likely benign
NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003861908] Chr3:128807564 [GRCh38]
Chr3:128526407 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_004637.6(RAB7A):c.249C>T (p.Cys83=) single nucleotide variant Charcot-Marie-Tooth disease type 2B [RCV003866205] Chr3:128806440 [GRCh38]
Chr3:128525283 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3q21.3(chr3:128471823-128710382)x3 copy number gain not specified [RCV003986438] Chr3:128471823..128710382 [GRCh37]
Chr3:3q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2058
Count of miRNA genes:784
Interacting mature miRNAs:887
Transcripts:ENST00000265062, ENST00000464496, ENST00000482525, ENST00000483906, ENST00000485280, ENST00000490093, ENST00000491681, ENST00000493186
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH47167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,532,468 - 128,532,607UniSTSGRCh37
Build 363130,015,158 - 130,015,297RGDNCBI36
Celera3126,964,719 - 126,964,858RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,919,933 - 125,920,072UniSTS
GeneMap99-GB4 RH Map3447.61UniSTS
D3S2861E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,533,411 - 128,533,614UniSTSGRCh37
Build 363130,016,101 - 130,016,304RGDNCBI36
Celera3126,965,662 - 126,965,865RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,920,876 - 125,921,079UniSTS
SHGC-77328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,533,035 - 128,533,153UniSTSGRCh37
Build 363130,015,725 - 130,015,843RGDNCBI36
Celera3126,965,286 - 126,965,404RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,920,500 - 125,920,618UniSTS
TNG Radiation Hybrid Map354812.0UniSTS
GeneMap99-GB4 RH Map3458.7UniSTS
RAB7_1563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,532,352 - 128,533,092UniSTSGRCh37
Build 363130,015,042 - 130,015,782RGDNCBI36
Celera3126,964,603 - 126,965,343RGD
HuRef3125,919,817 - 125,920,557UniSTS
D3S3116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,533,412 - 128,533,638UniSTSGRCh37
Build 363130,016,102 - 130,016,328RGDNCBI36
Celera3126,965,663 - 126,965,889RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,920,877 - 125,921,103UniSTS
TNG Radiation Hybrid Map354812.0UniSTS
GeneMap99-GB4 RH Map3458.3UniSTS
Whitehead-RH Map3550.8UniSTS
STS-H69522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,532,528 - 128,532,742UniSTSGRCh37
Build 363130,015,218 - 130,015,432RGDNCBI36
Celera3126,964,779 - 126,964,993RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,919,993 - 125,920,207UniSTS
TNG Radiation Hybrid Map354812.0UniSTS
GeneMap99-GB4 RH Map3459.58UniSTS
D3S3901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,533,273 - 128,533,447UniSTSGRCh37
Build 363130,015,963 - 130,016,137RGDNCBI36
Celera3126,965,524 - 126,965,698RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,920,738 - 125,920,912UniSTS
RAB7A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,525,401 - 128,526,430UniSTSGRCh37
Celera3126,957,652 - 126,958,681UniSTS
HuRef3125,912,825 - 125,913,854UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4 4 10 34
Medium 2432 2978 1723 622 1945 464 4345 2191 3709 418 1414 1608 171 1204 2788 4
Low 6 9 3 2 2 1 2 5 25 1 12 5 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF050175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU122058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA748697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ766813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265062   ⟹   ENSP00000265062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,183 - 128,814,798 (+)Ensembl
RefSeq Acc Id: ENST00000464496   ⟹   ENSP00000417978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,795,243 - 128,807,594 (+)Ensembl
RefSeq Acc Id: ENST00000482525   ⟹   ENSP00000417668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,193 - 128,814,353 (+)Ensembl
RefSeq Acc Id: ENST00000483906   ⟹   ENSP00000417155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,795,359 - 128,813,541 (+)Ensembl
RefSeq Acc Id: ENST00000485280   ⟹   ENSP00000418283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,795,359 - 128,813,644 (+)Ensembl
RefSeq Acc Id: ENST00000490093   ⟹   ENSP00000418955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,157 - 128,813,791 (+)Ensembl
RefSeq Acc Id: ENST00000491681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,352 - 128,798,425 (+)Ensembl
RefSeq Acc Id: ENST00000493186   ⟹   ENSP00000417189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,183 - 128,813,445 (+)Ensembl
RefSeq Acc Id: ENST00000674589   ⟹   ENSP00000502088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,794,844 - 128,814,796 (+)Ensembl
RefSeq Acc Id: ENST00000674593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,801,992 - 128,814,797 (+)Ensembl
RefSeq Acc Id: ENST00000674748   ⟹   ENSP00000502224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,183 - 128,814,796 (+)Ensembl
RefSeq Acc Id: ENST00000675342   ⟹   ENSP00000502486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,163 - 128,814,796 (+)Ensembl
RefSeq Acc Id: ENST00000675497   ⟹   ENSP00000502000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,794,552 - 128,814,796 (+)Ensembl
RefSeq Acc Id: ENST00000675712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,136 - 128,814,796 (+)Ensembl
RefSeq Acc Id: ENST00000675864   ⟹   ENSP00000502566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,136 - 128,825,942 (+)Ensembl
RefSeq Acc Id: ENST00000676147   ⟹   ENSP00000501656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,797,969 - 128,814,796 (+)Ensembl
RefSeq Acc Id: ENST00000676214   ⟹   ENSP00000501618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,693,669 - 128,814,797 (+)Ensembl
RefSeq Acc Id: ENST00000676425   ⟹   ENSP00000502084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,726,136 - 128,814,762 (+)Ensembl
RefSeq Acc Id: NM_004637   ⟹   NP_004628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,726,183 - 128,814,798 (+)NCBI
GRCh373128,444,975 - 128,533,641 (+)NCBI
Build 363129,927,669 - 130,016,331 (+)NCBI Archive
HuRef3125,832,324 - 125,921,106 (+)ENTREZGENE
CHM1_13128,408,152 - 128,496,845 (+)NCBI
T2T-CHM13v2.03131,470,839 - 131,559,516 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004628   ⟸   NM_004637
- UniProtKB: Q9NWJ0 (UniProtKB/Swiss-Prot),   A8K3V6 (UniProtKB/Swiss-Prot),   Q9UPB0 (UniProtKB/Swiss-Prot),   P51149 (UniProtKB/Swiss-Prot),   A0A158RFU6 (UniProtKB/TrEMBL),   B4DPH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417978   ⟸   ENST00000464496
RefSeq Acc Id: ENSP00000418955   ⟸   ENST00000490093
RefSeq Acc Id: ENSP00000417189   ⟸   ENST00000493186
RefSeq Acc Id: ENSP00000417668   ⟸   ENST00000482525
RefSeq Acc Id: ENSP00000417155   ⟸   ENST00000483906
RefSeq Acc Id: ENSP00000418283   ⟸   ENST00000485280
RefSeq Acc Id: ENSP00000265062   ⟸   ENST00000265062
RefSeq Acc Id: ENSP00000502224   ⟸   ENST00000674748
RefSeq Acc Id: ENSP00000502088   ⟸   ENST00000674589
RefSeq Acc Id: ENSP00000502000   ⟸   ENST00000675497
RefSeq Acc Id: ENSP00000502566   ⟸   ENST00000675864
RefSeq Acc Id: ENSP00000502486   ⟸   ENST00000675342
RefSeq Acc Id: ENSP00000501618   ⟸   ENST00000676214
RefSeq Acc Id: ENSP00000501656   ⟸   ENST00000676147
RefSeq Acc Id: ENSP00000502084   ⟸   ENST00000676425

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51149-F1-model_v2 AlphaFold P51149 1-207 view protein structure

Promoters
RGD ID:6865608
Promoter ID:EPDNEW_H5969
Type:initiation region
Name:RAB7A_1
Description:RAB7A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,726,183 - 128,726,243EPDNEW
RGD ID:6801533
Promoter ID:HG_KWN:46135
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004637,   UC010HSV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,927,424 - 129,927,924 (+)MPROMDB
RGD ID:6851944
Promoter ID:EP73778
Type:initiation region
Name:HS_RAB7
Description:RAB7, member RAS oncogene family.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,927,726 - 129,927,786EPD
RGD ID:6801534
Promoter ID:HG_KWN:46138
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC003EKT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,998,236 - 129,998,736 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9788 AgrOrtholog
COSMIC RAB7A COSMIC
Ensembl Genes ENSG00000075785 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265062 ENTREZGENE
  ENST00000265062.8 UniProtKB/Swiss-Prot
  ENST00000464496.5 UniProtKB/TrEMBL
  ENST00000482525.5 UniProtKB/TrEMBL
  ENST00000483906.5 UniProtKB/TrEMBL
  ENST00000485280.1 UniProtKB/TrEMBL
  ENST00000490093.6 UniProtKB/TrEMBL
  ENST00000493186.6 UniProtKB/TrEMBL
  ENST00000674589.1 UniProtKB/Swiss-Prot
  ENST00000674748.1 UniProtKB/TrEMBL
  ENST00000675342.1 UniProtKB/Swiss-Prot
  ENST00000675497.1 UniProtKB/Swiss-Prot
  ENST00000675864.1 UniProtKB/TrEMBL
  ENST00000676147.1 UniProtKB/TrEMBL
  ENST00000676214.1 UniProtKB/Swiss-Prot
  ENST00000676425.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075785 GTEx
HGNC ID HGNC:9788 ENTREZGENE
Human Proteome Map RAB7A Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7879 ENTREZGENE
OMIM 602298 OMIM
PANTHER RAB FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS-RELATED PROTEIN RAB-7A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Roc UniProtKB/TrEMBL
PharmGKB PA162400619 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
  RHO UniProtKB/TrEMBL
SMART RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A158RFU6 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF79_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG52_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGE6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH84_HUMAN UniProtKB/TrEMBL
  A8K3V6 ENTREZGENE
  B4DPH9 ENTREZGENE, UniProtKB/TrEMBL
  C9IZZ0_HUMAN UniProtKB/TrEMBL
  C9J4S4_HUMAN UniProtKB/TrEMBL
  C9J4V0_HUMAN UniProtKB/TrEMBL
  C9J592_HUMAN UniProtKB/TrEMBL
  C9J7D1_HUMAN UniProtKB/TrEMBL
  C9J8S3_HUMAN UniProtKB/TrEMBL
  P51149 ENTREZGENE
  Q9NWJ0 ENTREZGENE
  Q9UPB0 ENTREZGENE
  RAB7A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K3V6 UniProtKB/Swiss-Prot
  Q9NWJ0 UniProtKB/Swiss-Prot
  Q9UPB0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-09 RAB7A  RAB7A, member RAS oncogene family  CMT2B  Charcot-Marie-Tooth neuropathy 2B  Data merged from RGD:1352144 737654 PROVISIONAL