TBC1D4 (TBC1 domain family member 4) - Rat Genome Database

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Gene: TBC1D4 (TBC1 domain family member 4) Homo sapiens
Analyze
Symbol: TBC1D4
Name: TBC1 domain family member 4
RGD ID: 1345136
HGNC Page HGNC:19165
Description: Predicted to enable GTPase activator activity. Involved in cellular response to insulin stimulus and vesicle-mediated transport. Located in cytosol. Implicated in acanthosis nigricans.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Acrg embryonic lethality minimal region ortholog; akt substrate of 160 kDa; AS160; DKFZp779C0666; NIDDM5; TBC (Tre-2, BUB2, CDC16) domain-containing protein; TBC1 domain family, member 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381375,283,503 - 75,482,169 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1375,283,503 - 75,482,651 (-)Ensemblhg38GRCh38
GRCh371375,857,639 - 76,056,305 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361374,756,810 - 74,954,251 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341374,757,253 - 74,954,251NCBI
Celera1356,756,694 - 56,954,119 (-)NCBICelera
Cytogenetic Map13q22.2NCBI
HuRef1356,556,159 - 56,753,666 (-)NCBIHuRef
CHM1_11375,826,535 - 76,023,986 (-)NCBICHM1_1
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-colchicine  (ISO)
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,4'-trichlorobiphenyl  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arotinoid acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
ciglitazone  (EXP,ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (EXP)
DDT  (ISO)
Dibutyl phosphate  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP,ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
ginsenoside Re  (ISO)
glucose  (EXP)
GSK-J4  (EXP)
hexadecanoic acid  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
L-ascorbic acid  (ISO)
lipopolysaccharide  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
pirinixic acid  (ISO)
quercetin  (ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
vincristine  (EXP)
vitamin E  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA)
Golgi apparatus  (IBA)
vesicle  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. Dash S, etal., Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9350-5. doi: 10.1073/pnas.0900909106. Epub 2009 May 22.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Rab proteins in endocytosis and Glut4 trafficking. Kaddai V, etal., Acta Physiol (Oxf). 2008 Jan;192(1):75-88.
4. The GLUT4 code. Larance M, etal., Mol Endocrinol. 2008 Feb;22(2):226-33. Epub 2007 Aug 23.
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. GLUT4 translocation: the last 200 nanometers. Watson RT and Pessin JE, Cell Signal. 2007 Nov;19(11):2209-17. Epub 2007 Jun 21.
9. Insulin action on glucose transporters through molecular switches, tracks and tethers. Zaid H, etal., Biochem J. 2008 Jul 15;413(2):201-15.
Additional References at PubMed
PMID:9628581   PMID:11829485   PMID:11994271   PMID:12421765   PMID:12477932   PMID:12601173   PMID:14744259   PMID:15057823   PMID:15161933   PMID:15302935   PMID:15304337   PMID:15324660  
PMID:15919790   PMID:15971998   PMID:16055720   PMID:16083285   PMID:16964243   PMID:17077344   PMID:17081983   PMID:17353931   PMID:17369524   PMID:17513702   PMID:17617058   PMID:17977950  
PMID:17979178   PMID:18276765   PMID:18771725   PMID:18845784   PMID:19077034   PMID:19252894   PMID:19923418   PMID:20379614   PMID:20445134   PMID:20574165   PMID:20937822   PMID:20938636  
PMID:20943949   PMID:21145461   PMID:21454505   PMID:21454690   PMID:21606541   PMID:21873635   PMID:22028408   PMID:22863883   PMID:22908308   PMID:23153538   PMID:23376485   PMID:23414517  
PMID:23443559   PMID:23444366   PMID:23562823   PMID:23801578   PMID:24255178   PMID:24876356   PMID:25043022   PMID:25266655   PMID:25332235   PMID:25515538   PMID:25609649   PMID:25770209  
PMID:25921289   PMID:26186194   PMID:26485645   PMID:26496610   PMID:26972000   PMID:27152871   PMID:27173435   PMID:27561922   PMID:27684187   PMID:27880917   PMID:28514442   PMID:28515276  
PMID:28524877   PMID:28545963   PMID:28611215   PMID:29089450   PMID:29180619   PMID:29229926   PMID:29467282   PMID:29507755   PMID:29676528   PMID:30021884   PMID:31091453   PMID:31895596  
PMID:32912968   PMID:33002563   PMID:33239621   PMID:33328529   PMID:33545068   PMID:33729478   PMID:33912980   PMID:33961781   PMID:34079125   PMID:34208471   PMID:34265779   PMID:34709266  
PMID:35032548   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35696571   PMID:35944360   PMID:35987950   PMID:36114006   PMID:36215168   PMID:36779422   PMID:36931259  
PMID:36944026   PMID:37071682   PMID:37129117   PMID:37167062   PMID:37314216   PMID:37827155   PMID:38113892   PMID:38580884   PMID:39181362  


Genomics

Comparative Map Data
TBC1D4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381375,283,503 - 75,482,169 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1375,283,503 - 75,482,651 (-)Ensemblhg38GRCh38
GRCh371375,857,639 - 76,056,305 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361374,756,810 - 74,954,251 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341374,757,253 - 74,954,251NCBI
Celera1356,756,694 - 56,954,119 (-)NCBICelera
Cytogenetic Map13q22.2NCBI
HuRef1356,556,159 - 56,753,666 (-)NCBIHuRef
CHM1_11375,826,535 - 76,023,986 (-)NCBICHM1_1
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBIT2T-CHM13v2.0
Tbc1d4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914101,679,800 - 101,846,717 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14101,679,796 - 101,846,627 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm3814101,442,360 - 101,609,281 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14101,442,360 - 101,609,191 (-)Ensemblmm10GRCm38
MGSCv3714101,841,577 - 102,008,408 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3614100,325,233 - 100,494,965 (-)NCBIMGSCv36mm8
Celera14100,079,886 - 100,248,354 (-)NCBICelera
Cytogenetic Map14E2.3NCBI
cM Map1450.9NCBI
Tbc1d4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81584,670,756 - 84,848,876 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1584,670,756 - 84,848,693 (-)EnsemblGRCr8
mRatBN7.21578,256,030 - 78,434,168 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1578,257,121 - 78,434,265 (-)EnsemblmRatBN7.2
Rnor_6.01585,927,978 - 86,105,829 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1585,930,044 - 86,105,273 (-)Ensemblrn6Rnor6.0
Rnor_5.01589,695,614 - 89,871,879 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41585,359,159 - 85,561,229 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1577,452,014 - 77,628,396 (-)NCBICelera
Cytogenetic Map15q21NCBI
Tbc1d4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540431,622,102 - 31,691,517 (+)Ensembl
ChiLan1.0NW_00495540431,516,727 - 31,691,414 (+)NCBIChiLan1.0ChiLan1.0
TBC1D4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21476,864,486 - 77,058,341 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11375,457,938 - 75,656,273 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01356,513,065 - 56,706,491 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11375,282,441 - 75,480,138 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1375,282,441 - 75,361,729 (-)EnsemblpanPan2panpan1.1
TBC1D4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12229,109,079 - 29,175,357 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2229,110,201 - 29,290,154 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2228,971,148 - 29,151,992 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02229,444,745 - 29,625,974 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2229,445,331 - 29,625,959 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12229,095,512 - 29,277,006 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02229,139,459 - 29,320,685 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02229,208,132 - 29,388,931 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Tbc1d4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945130,255,477 - 130,441,705 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365115,673,368 - 5,856,631 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365115,789,683 - 5,858,930 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1147,543,815 - 47,828,208 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11147,543,808 - 47,760,928 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21152,161,139 - 52,187,164 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1354,384,597 - 54,588,842 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl354,386,342 - 54,464,531 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604610,524,400 - 10,732,251 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbc1d4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475124,999,386 - 25,181,702 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462475124,999,301 - 25,183,905 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Tbc1d4
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11222,978,594 - 23,166,155 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in TBC1D4
193 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014832.5(TBC1D4):c.1087C>T (p.Arg363Ter) single nucleotide variant not provided [RCV000114317] Chr13:75359852 [GRCh38]
Chr13:75933988 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768] Chr13:71509212..82146085 [GRCh38]
Chr13:72083344..82720220 [GRCh37]
Chr13:70981345..81618221 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
NM_014832.5(TBC1D4):c.2050C>G (p.Arg684Gly) single nucleotide variant not provided [RCV000968695]|not specified [RCV000118586] Chr13:75324385 [GRCh38]
Chr13:75898521 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.1088G>A (p.Arg363Gln) single nucleotide variant not specified [RCV004302331] Chr13:75359851 [GRCh38]
Chr13:75933987 [GRCh37]
Chr13:74831988 [NCBI36]
Chr13:13q22.2		 uncertain significance|not provided
NM_014832.5(TBC1D4):c.1587C>T (p.His529=) single nucleotide variant TBC1D4-related disorder [RCV004752749]|not provided [RCV000967314]|not specified [RCV000118582] Chr13:75341149 [GRCh38]
Chr13:75915285 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.1810T>G (p.Tyr604Asp) single nucleotide variant not provided [RCV000118583] Chr13:75326420 [GRCh38]
Chr13:75900556 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3356T>C (p.Val1119Ala) single nucleotide variant TBC1D4-related disorder [RCV004752750]|not provided [RCV000893808]|not specified [RCV000118584] Chr13:75292232 [GRCh38]
Chr13:75866368 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.1611T>G (p.Ser537=) single nucleotide variant not provided [RCV004706542]|not specified [RCV000118585] Chr13:75341125 [GRCh38]
Chr13:75915261 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.2254A>G (p.Thr752Ala) single nucleotide variant not provided [RCV000948925]|not specified [RCV000118587] Chr13:75312867 [GRCh38]
Chr13:75887003 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.2384-3C>T single nucleotide variant not provided [RCV001719877]|not specified [RCV000118588] Chr13:75310154 [GRCh38]
Chr13:75884290 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile) single nucleotide variant not provided [RCV001711206]|not specified [RCV000118589] Chr13:75310080 [GRCh38]
Chr13:75884216 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=) single nucleotide variant not provided [RCV001689661]|not specified [RCV000118590] Chr13:75302253 [GRCh38]
Chr13:75876389 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.302C>T (p.Ala101Val) single nucleotide variant not provided [RCV001636675]|not specified [RCV000118591] Chr13:75481466 [GRCh38]
Chr13:76055602 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met) single nucleotide variant not provided [RCV001682825]|not specified [RCV000118592] Chr13:75292148 [GRCh38]
Chr13:75866284 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.3617A>G (p.Asn1206Ser) single nucleotide variant not provided [RCV004706543]|not specified [RCV000118593] Chr13:75288980 [GRCh38]
Chr13:75863116 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.498+9G>A single nucleotide variant TBC1D4-related disorder [RCV003975052]|not provided [RCV001682826]|not specified [RCV000118594] Chr13:75481261 [GRCh38]
Chr13:76055397 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.606C>T (p.Phe202=) single nucleotide variant TBC1D4-related disorder [RCV003975053]|not provided [RCV004706544]|not specified [RCV000118595] Chr13:75362500 [GRCh38]
Chr13:75936636 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=) single nucleotide variant not provided [RCV001682827]|not specified [RCV000118596] Chr13:75362383 [GRCh38]
Chr13:75936519 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.84C>G (p.Pro28=) single nucleotide variant not provided [RCV001610425]|not specified [RCV000118597] Chr13:75481684 [GRCh38]
Chr13:76055820 [GRCh37]
Chr13:13q22.2		 benign|likely benign
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 copy number loss See cases [RCV000134874] Chr13:66320998..87855429 [GRCh38]
Chr13:66895130..88507684 [GRCh37]
Chr13:65793131..87305685 [NCBI36]
Chr13:13q21.32-31.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q22.1-22.2(chr13:74604761-75438226)x1 copy number loss See cases [RCV000142530] Chr13:74604761..75438226 [GRCh38]
Chr13:75178898..76012362 [GRCh37]
Chr13:74076899..74910363 [NCBI36]
Chr13:13q22.1-22.2		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
NM_014832.5(TBC1D4):c.3664-19dup duplication not specified [RCV000193995] Chr13:75287038..75287039 [GRCh38]
Chr13:75861174..75861175 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1 copy number loss See cases [RCV000240205] Chr13:72013791..88021559 [GRCh37]
Chr13:13q21.33-31.2		 pathogenic
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 copy number loss See cases [RCV000598789] Chr13:74459395..93481294 [GRCh37]
Chr13:13q22.1-31.3		 pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 copy number loss See cases [RCV000448053] Chr13:72174742..82221361 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
NM_014832.5(TBC1D4):c.7C>A (p.Pro3Thr) single nucleotide variant not specified [RCV000501058] Chr13:75481761 [GRCh38]
Chr13:76055897 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.713A>C (p.Lys238Thr) single nucleotide variant not provided [RCV004705632]|not specified [RCV000503605] Chr13:75362393 [GRCh38]
Chr13:75936529 [GRCh37]
Chr13:13q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_014832.5(TBC1D4):c.3827A>G (p.Asn1276Ser) single nucleotide variant not specified [RCV000503889] Chr13:75286862 [GRCh38]
Chr13:75860998 [GRCh37]
Chr13:13q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_014832.5(TBC1D4):c.832C>T (p.Leu278Phe) single nucleotide variant not specified [RCV000504128] Chr13:75362274 [GRCh38]
Chr13:75936410 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
NM_014832.5(TBC1D4):c.1856C>T (p.Pro619Leu) single nucleotide variant TBC1D4-related disorder [RCV003962400]|not provided [RCV004704029]|not specified [RCV000500099] Chr13:75326374 [GRCh38]
Chr13:75900510 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.3810C>G (p.Pro1270=) single nucleotide variant not specified [RCV000500608] Chr13:75286879 [GRCh38]
Chr13:75861015 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.583G>A (p.Ala195Thr) single nucleotide variant not specified [RCV004290324] Chr13:75362523 [GRCh38]
Chr13:75936659 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1		 pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
NM_014832.5(TBC1D4):c.2198+255G>T single nucleotide variant not provided [RCV001541759] Chr13:75323982 [GRCh38]
Chr13:75898118 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1170+253A>G single nucleotide variant not provided [RCV001535252] Chr13:75359516 [GRCh38]
Chr13:75933652 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3317-247A>T single nucleotide variant not provided [RCV001691064] Chr13:75292518 [GRCh38]
Chr13:75866654 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1806+139C>A single nucleotide variant not provided [RCV001612129] Chr13:75327613 [GRCh38]
Chr13:75901749 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.2198+2T>G single nucleotide variant not provided [RCV000922531] Chr13:75324235 [GRCh38]
Chr13:75898371 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.3031A>T (p.Ile1011Phe) single nucleotide variant not specified [RCV004291132] Chr13:75299455 [GRCh38]
Chr13:75873591 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1081-247_1081-244dup duplication not provided [RCV001686831] Chr13:75360101..75360102 [GRCh38]
Chr13:75934237..75934238 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3157-258T>A single nucleotide variant not provided [RCV001639495] Chr13:75295271 [GRCh38]
Chr13:75869407 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.-262A>G single nucleotide variant not provided [RCV001657139] Chr13:75482029 [GRCh38]
Chr13:76056165 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.2034-59G>T single nucleotide variant not provided [RCV001675412] Chr13:75324460 [GRCh38]
Chr13:75898596 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3316+149G>A single nucleotide variant not provided [RCV001722733] Chr13:75294705 [GRCh38]
Chr13:75868841 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.498+310C>G single nucleotide variant not provided [RCV001647893] Chr13:75480960 [GRCh38]
Chr13:76055096 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.2033+298G>T single nucleotide variant not provided [RCV001645859] Chr13:75325899 [GRCh38]
Chr13:75900035 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3487-69C>G single nucleotide variant not provided [RCV001640803] Chr13:75289179 [GRCh38]
Chr13:75863315 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_014832.5(TBC1D4):c.2198+210A>G single nucleotide variant not provided [RCV001538397] Chr13:75324027 [GRCh38]
Chr13:75898163 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_014832.5(TBC1D4):c.1993C>T (p.Arg665Cys) single nucleotide variant not provided [RCV001356865] Chr13:75326237 [GRCh38]
Chr13:75900373 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2912-77C>T single nucleotide variant not provided [RCV001684381] Chr13:75299651 [GRCh38]
Chr13:75873787 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.*124G>T single nucleotide variant not provided [RCV001682213] Chr13:75286668 [GRCh38]
Chr13:75860804 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1611+44A>T single nucleotide variant not provided [RCV001611783] Chr13:75341081 [GRCh38]
Chr13:75915217 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_014832.5(TBC1D4):c.492C>T (p.Pro164=) single nucleotide variant not specified [RCV001819531] Chr13:75481276 [GRCh38]
Chr13:76055412 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2323C>T (p.Arg775Cys) single nucleotide variant not specified [RCV001817512] Chr13:75312798 [GRCh38]
Chr13:75886934 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1 copy number loss not provided [RCV001834426] Chr13:59574760..89410027 [GRCh37]
Chr13:13q21.1-31.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) copy number loss not specified [RCV002053064] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_014832.5(TBC1D4):c.3111C>A (p.Asp1037Glu) single nucleotide variant not specified [RCV004320090] Chr13:75299375 [GRCh38]
Chr13:75873511 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q22.1-22.3(chr13:73600015-77624907)x1 copy number loss not provided [RCV002475822] Chr13:73600015..77624907 [GRCh37]
Chr13:13q22.1-22.3		 uncertain significance
NM_014832.5(TBC1D4):c.2905G>A (p.Asp969Asn) single nucleotide variant not specified [RCV004118106] Chr13:75302249 [GRCh38]
Chr13:75876385 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.380C>G (p.Ser127Trp) single nucleotide variant not specified [RCV004097666] Chr13:75481388 [GRCh38]
Chr13:76055524 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.341C>T (p.Pro114Leu) single nucleotide variant not specified [RCV004222085] Chr13:75481427 [GRCh38]
Chr13:76055563 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1595T>G (p.Ile532Ser) single nucleotide variant not specified [RCV004188123] Chr13:75341141 [GRCh38]
Chr13:75915277 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2431A>C (p.Thr811Pro) single nucleotide variant not specified [RCV004106599] Chr13:75310104 [GRCh38]
Chr13:75884240 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1490A>G (p.Glu497Gly) single nucleotide variant not specified [RCV004161415] Chr13:75341506 [GRCh38]
Chr13:75915642 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1207C>T (p.Arg403Trp) single nucleotide variant not specified [RCV004186827] Chr13:75356215 [GRCh38]
Chr13:75930351 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.515G>A (p.Ser172Asn) single nucleotide variant not specified [RCV004147300] Chr13:75362591 [GRCh38]
Chr13:75936727 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1319C>T (p.Ala440Val) single nucleotide variant not specified [RCV004081894] Chr13:75349259 [GRCh38]
Chr13:75923395 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2842C>T (p.Pro948Ser) single nucleotide variant not specified [RCV004256672] Chr13:75302312 [GRCh38]
Chr13:75876448 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2351T>C (p.Met784Thr) single nucleotide variant not specified [RCV004257237] Chr13:75312770 [GRCh38]
Chr13:75886906 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2176C>G (p.Pro726Ala) single nucleotide variant not specified [RCV004255854] Chr13:75324259 [GRCh38]
Chr13:75898395 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2042C>T (p.Ser681Leu) single nucleotide variant not specified [RCV004276267] Chr13:75324393 [GRCh38]
Chr13:75898529 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1343C>T (p.Thr448Met) single nucleotide variant not specified [RCV004259714] Chr13:75349235 [GRCh38]
Chr13:75923371 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2366C>T (p.Ser789Leu) single nucleotide variant not specified [RCV004281077] Chr13:75312755 [GRCh38]
Chr13:75886891 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.620G>T (p.Cys207Phe) single nucleotide variant not specified [RCV004359463] Chr13:75362486 [GRCh38]
Chr13:75936622 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
NM_014832.5(TBC1D4):c.3391A>G (p.Ile1131Val) single nucleotide variant TBC1D4-related disorder [RCV003981587] Chr13:75292197 [GRCh38]
Chr13:75866333 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.1807-9G>C single nucleotide variant TBC1D4-related disorder [RCV003959198] Chr13:75326432 [GRCh38]
Chr13:75900568 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.1276-4G>T single nucleotide variant TBC1D4-related disorder [RCV003969862] Chr13:75349306 [GRCh38]
Chr13:75923442 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.2167A>G (p.Arg723Gly) single nucleotide variant not specified [RCV004474011] Chr13:75324268 [GRCh38]
Chr13:75898404 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.860C>T (p.Pro287Leu) single nucleotide variant not specified [RCV004474024] Chr13:75362246 [GRCh38]
Chr13:75936382 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.829C>T (p.His277Tyr) single nucleotide variant not specified [RCV004474023] Chr13:75362277 [GRCh38]
Chr13:75936413 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.826A>G (p.Thr276Ala) single nucleotide variant not specified [RCV004474022] Chr13:75362280 [GRCh38]
Chr13:75936416 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.805G>A (p.Glu269Lys) single nucleotide variant not specified [RCV004474021] Chr13:75362301 [GRCh38]
Chr13:75936437 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.733G>A (p.Gly245Ser) single nucleotide variant not specified [RCV004474020] Chr13:75362373 [GRCh38]
Chr13:75936509 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.47T>G (p.Leu16Arg) single nucleotide variant not specified [RCV004474019] Chr13:75481721 [GRCh38]
Chr13:76055857 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3835C>G (p.Leu1279Val) single nucleotide variant not specified [RCV004474018] Chr13:75286854 [GRCh38]
Chr13:75860990 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3228T>A (p.Asn1076Lys) single nucleotide variant not specified [RCV004474016] Chr13:75294942 [GRCh38]
Chr13:75869078 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3148T>C (p.Ser1050Pro) single nucleotide variant not specified [RCV004474015] Chr13:75299338 [GRCh38]
Chr13:75873474 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2803T>C (p.Tyr935His) single nucleotide variant not specified [RCV004474014] Chr13:75302351 [GRCh38]
Chr13:75876487 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2438A>G (p.Glu813Gly) single nucleotide variant not specified [RCV004474013] Chr13:75310097 [GRCh38]
Chr13:75884233 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2378A>G (p.Gln793Arg) single nucleotide variant not specified [RCV004474012] Chr13:75312743 [GRCh38]
Chr13:75886879 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2041T>G (p.Ser681Ala) single nucleotide variant not specified [RCV004474010] Chr13:75324394 [GRCh38]
Chr13:75898530 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1483A>G (p.Ile495Val) single nucleotide variant not specified [RCV004474006] Chr13:75341513 [GRCh38]
Chr13:75915649 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.82C>T (p.Pro28Ser) single nucleotide variant not specified [RCV004682015] Chr13:75481686 [GRCh38]
Chr13:76055822 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.679G>C (p.Glu227Gln) single nucleotide variant not specified [RCV004682016] Chr13:75362427 [GRCh38]
Chr13:75936563 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.725A>G (p.Glu242Gly) single nucleotide variant not specified [RCV004673464] Chr13:75362381 [GRCh38]
Chr13:75936517 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.307G>C (p.Gly103Arg) single nucleotide variant not specified [RCV004673466] Chr13:75481461 [GRCh38]
Chr13:76055597 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1267G>A (p.Glu423Lys) single nucleotide variant TBC1D4-related disorder [RCV004754047] Chr13:75356155 [GRCh38]
Chr13:75930291 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3716C>T (p.Thr1239Met) single nucleotide variant not specified [RCV004869413] Chr13:75286973 [GRCh38]
Chr13:75861109 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3796C>T (p.Arg1266Trp) single nucleotide variant not specified [RCV004869414] Chr13:75286893 [GRCh38]
Chr13:75861029 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1882G>A (p.Glu628Lys) single nucleotide variant not specified [RCV004869415] Chr13:75326348 [GRCh38]
Chr13:75900484 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3218T>C (p.Leu1073Pro) single nucleotide variant not specified [RCV004869416] Chr13:75294952 [GRCh38]
Chr13:75869088 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.835G>T (p.Gly279Cys) single nucleotide variant not specified [RCV004869421] Chr13:75362271 [GRCh38]
Chr13:75936407 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2758C>G (p.Pro920Ala) single nucleotide variant not specified [RCV004869419] Chr13:75302396 [GRCh38]
Chr13:75876532 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.896G>A (p.Arg299Gln) single nucleotide variant not specified [RCV004869412] Chr13:75362210 [GRCh38]
Chr13:75936346 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3746G>C (p.Arg1249Pro) single nucleotide variant not specified [RCV004869417] Chr13:75286943 [GRCh38]
Chr13:75861079 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2807G>A (p.Arg936Gln) single nucleotide variant not specified [RCV004869418] Chr13:75302347 [GRCh38]
Chr13:75876483 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2717G>A (p.Cys906Tyr) single nucleotide variant not specified [RCV004869420] Chr13:75306348 [GRCh38]
Chr13:75880484 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1792C>T (p.Leu598Phe) single nucleotide variant not specified [RCV004869410] Chr13:75327766 [GRCh38]
Chr13:75901902 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3797G>A (p.Arg1266Gln) single nucleotide variant not specified [RCV005289434] Chr13:75286892 [GRCh38]
Chr13:75861028 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1316C>T (p.Thr439Met) single nucleotide variant not specified [RCV005289435] Chr13:75349262 [GRCh38]
Chr13:75923398 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1858T>C (p.Ser620Pro) single nucleotide variant not specified [RCV005289440] Chr13:75326372 [GRCh38]
Chr13:75900508 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3643G>T (p.Asp1215Tyr) single nucleotide variant not specified [RCV005289441] Chr13:75288954 [GRCh38]
Chr13:75863090 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2648G>A (p.Gly883Asp) single nucleotide variant not specified [RCV005289443] Chr13:75306417 [GRCh38]
Chr13:75880553 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.823G>A (p.Asp275Asn) single nucleotide variant not specified [RCV005289438] Chr13:75362283 [GRCh38]
Chr13:75936419 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.2722A>T (p.Met908Leu) single nucleotide variant not specified [RCV005289439] Chr13:75306343 [GRCh38]
Chr13:75880479 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2101A>C (p.Thr701Pro) single nucleotide variant not specified [RCV005289442] Chr13:75324334 [GRCh38]
Chr13:75898470 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2774G>A (p.Gly925Glu) single nucleotide variant not specified [RCV005289433] Chr13:75302380 [GRCh38]
Chr13:75876516 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2618G>T (p.Arg873Ile) single nucleotide variant not specified [RCV005289445] Chr13:75306447 [GRCh38]
Chr13:75880583 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3811G>A (p.Ala1271Thr) single nucleotide variant not specified [RCV005289436] Chr13:75286878 [GRCh38]
Chr13:75861014 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2156A>G (p.Gln719Arg) single nucleotide variant not specified [RCV005283047] Chr13:75324279 [GRCh38]
Chr13:75898415 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_001286658.1(TBC1D4):c.2198+222T>C single nucleotide variant Lung cancer [RCV000098248] Chr13:75324015 [GRCh38]
Chr13:75898151 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_001286658.1(TBC1D4):c.498+34027A>G single nucleotide variant Lung cancer [RCV000098249] Chr13:75447243 [GRCh38]
Chr13:76021379 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3762A>T (p.Glu1254Asp) single nucleotide variant not specified [RCV000118976] Chr13:75286927 [GRCh38]
Chr13:75861063 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.3824T>C (p.Val1275Ala) single nucleotide variant not provided [RCV004706545]|not specified [RCV000118977] Chr13:75286865 [GRCh38]
Chr13:75861001 [GRCh37]
Chr13:13q22.2		 benign|likely benign
NM_014832.5(TBC1D4):c.2050C>T (p.Arg684Ter) single nucleotide variant TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO [RCV000144945] Chr13:75324385 [GRCh38]
Chr13:75898521 [GRCh37]
Chr13:13q22.2		 pathogenic|risk factor|not provided
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 copy number loss See cases [RCV000134951] Chr13:60536344..84553188 [GRCh38]
Chr13:61110478..85127323 [GRCh37]
Chr13:60008479..84025324 [NCBI36]
Chr13:13q21.2-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 copy number loss See cases [RCV000138575] Chr13:72681540..79638468 [GRCh38]
Chr13:73255678..80212603 [GRCh37]
Chr13:72153679..79110604 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 copy number loss See cases [RCV000141460] Chr13:63713365..79638415 [GRCh38]
Chr13:64287498..80212550 [GRCh37]
Chr13:63185499..79110551 [NCBI36]
Chr13:13q21.31-31.1		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NM_014832.5(TBC1D4):c.145A>C (p.Arg49=) single nucleotide variant not specified [RCV000193024] Chr13:75481623 [GRCh38]
Chr13:76055759 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_014832.5(TBC1D4):c.3122G>A (p.Arg1041His) single nucleotide variant Insulin resistance [RCV000755002]|not specified [RCV004026173] Chr13:75299364 [GRCh38]
Chr13:75873500 [GRCh37]
Chr13:13q22.2		 pathogenic|uncertain significance
NM_014832.5(TBC1D4):c.125G>A (p.Gly42Glu) single nucleotide variant not specified [RCV004287897] Chr13:75481643 [GRCh38]
Chr13:76055779 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1 copy number loss See cases [RCV000448229] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
NM_014832.5(TBC1D4):c.1648A>G (p.Ser550Gly) single nucleotide variant not specified [RCV000502180] Chr13:75337004 [GRCh38]
Chr13:75911140 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_014832.5(TBC1D4):c.85G>A (p.Gly29Arg) single nucleotide variant not specified [RCV004313862] Chr13:75481683 [GRCh38]
Chr13:76055819 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.46C>A (p.Leu16Met) single nucleotide variant not specified [RCV004306788] Chr13:75481722 [GRCh38]
Chr13:76055858 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1731+148G>T single nucleotide variant not provided [RCV001645416] Chr13:75336773 [GRCh38]
Chr13:75910909 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.2(chr13:75719623-75926831)x3 copy number gain not provided [RCV001006579] Chr13:75719623..75926831 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1 copy number loss not provided [RCV001006577] Chr13:71502357..86571730 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
NM_014832.5(TBC1D4):c.498+331G>A single nucleotide variant not provided [RCV001638980] Chr13:75480939 [GRCh38]
Chr13:76055075 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3316+292A>G single nucleotide variant not provided [RCV001713962] Chr13:75294562 [GRCh38]
Chr13:75868698 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3696A>T (p.Ser1232=) single nucleotide variant not provided [RCV000955480] Chr13:75286993 [GRCh38]
Chr13:75861129 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.3317-254G>A single nucleotide variant not provided [RCV001598140] Chr13:75292525 [GRCh38]
Chr13:75866661 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1080+176G>C single nucleotide variant not provided [RCV001662913] Chr13:75361850 [GRCh38]
Chr13:75935986 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1409-136G>T single nucleotide variant not provided [RCV001676688] Chr13:75341723 [GRCh38]
Chr13:75915859 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3		 pathogenic
NM_014832.5(TBC1D4):c.1409-253T>C single nucleotide variant not provided [RCV001618176] Chr13:75341840 [GRCh38]
Chr13:75915976 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1731+258A>G single nucleotide variant not provided [RCV001527806] Chr13:75336663 [GRCh38]
Chr13:75910799 [GRCh37]
Chr13:13q22.2		 benign
NC_000013.11:g.75482305dup duplication not provided [RCV001678156] Chr13:75482304..75482305 [GRCh38]
Chr13:76056440..76056441 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1611+10dup duplication not provided [RCV001655279] Chr13:75341114..75341115 [GRCh38]
Chr13:75915250..75915251 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1807-333G>A single nucleotide variant not provided [RCV001649676] Chr13:75326756 [GRCh38]
Chr13:75900892 [GRCh37]
Chr13:13q22.2		 benign
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
NM_014832.5(TBC1D4):c.2752+64del deletion not provided [RCV001692672] Chr13:75306249 [GRCh38]
Chr13:75880385 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1611+45T>G single nucleotide variant not provided [RCV001668978] Chr13:75341080 [GRCh38]
Chr13:75915216 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1611+46A>G single nucleotide variant not provided [RCV001665076] Chr13:75341079 [GRCh38]
Chr13:75915215 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1276-103dup duplication not provided [RCV001690779] Chr13:75349400..75349401 [GRCh38]
Chr13:75923536..75923537 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.2222+135A>G single nucleotide variant not provided [RCV001654547] Chr13:75319879 [GRCh38]
Chr13:75894015 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.1080+233A>G single nucleotide variant not provided [RCV001674080] Chr13:75361793 [GRCh38]
Chr13:75935929 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.2154C>T (p.Tyr718=) single nucleotide variant not specified [RCV001819237] Chr13:75324281 [GRCh38]
Chr13:75898417 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.1569A>C (p.Glu523Asp) single nucleotide variant TBC1D4-related disorder [RCV004753393]|not specified [RCV001819241] Chr13:75341167 [GRCh38]
Chr13:75915303 [GRCh37]
Chr13:13q22.2		 likely benign|uncertain significance
NM_014832.5(TBC1D4):c.812C>G (p.Ala271Gly) single nucleotide variant not provided [RCV004704655]|not specified [RCV001819248] Chr13:75362294 [GRCh38]
Chr13:75936430 [GRCh37]
Chr13:13q22.2		 likely benign
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831) copy number loss not specified [RCV002053070] Chr13:75574661..87784831 [GRCh37]
Chr13:13q22.2-31.2		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q22.2(chr13:75822317-76275317)x4 copy number gain not provided [RCV002472667] Chr13:75822317..76275317 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.736C>G (p.Pro246Ala) single nucleotide variant not specified [RCV004204954] Chr13:75362370 [GRCh38]
Chr13:75936506 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.2210C>G (p.Ala737Gly) single nucleotide variant not specified [RCV004092557] Chr13:75320026 [GRCh38]
Chr13:75894162 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.815A>T (p.Asp272Val) single nucleotide variant not specified [RCV004132788] Chr13:75362291 [GRCh38]
Chr13:75936427 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.481G>A (p.Ala161Thr) single nucleotide variant not specified [RCV004106330] Chr13:75481287 [GRCh38]
Chr13:76055423 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.166C>T (p.Pro56Ser) single nucleotide variant not specified [RCV004226768] Chr13:75481602 [GRCh38]
Chr13:76055738 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2459T>G (p.Phe820Cys) single nucleotide variant not specified [RCV004085715] Chr13:75310076 [GRCh38]
Chr13:75884212 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.413A>C (p.Tyr138Ser) single nucleotide variant not specified [RCV004133731] Chr13:75481355 [GRCh38]
Chr13:76055491 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2357A>G (p.Lys786Arg) single nucleotide variant not specified [RCV004270246] Chr13:75312764 [GRCh38]
Chr13:75886900 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.374A>G (p.His125Arg) single nucleotide variant not specified [RCV004266406] Chr13:75481394 [GRCh38]
Chr13:76055530 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.848G>C (p.Gly283Ala) single nucleotide variant not specified [RCV004351728] Chr13:75362258 [GRCh38]
Chr13:75936394 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1 copy number loss not provided [RCV003483189] Chr13:71119640..76667297 [GRCh37]
Chr13:13q21.33-22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2T>A (p.Met1Lys) single nucleotide variant TBC1D4-related disorder [RCV003412488] Chr13:75481766 [GRCh38]
Chr13:76055902 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.238C>G (p.Arg80Gly) single nucleotide variant TBC1D4-related disorder [RCV003402687] Chr13:75481530 [GRCh38]
Chr13:76055666 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 copy number loss not specified [RCV003987013] Chr13:56450978..93582180 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
NM_014832.5(TBC1D4):c.2147G>A (p.Ser716Asn) single nucleotide variant TBC1D4-related disorder [RCV003904026] Chr13:75324288 [GRCh38]
Chr13:75898424 [GRCh37]
Chr13:13q22.2		 benign
NM_014832.5(TBC1D4):c.738G>A (p.Pro246=) single nucleotide variant TBC1D4-related disorder [RCV003914699] Chr13:75362368 [GRCh38]
Chr13:75936504 [GRCh37]
Chr13:13q22.2		 likely benign
NM_014832.5(TBC1D4):c.1034A>C (p.His345Pro) single nucleotide variant not specified [RCV004474003] Chr13:75362072 [GRCh38]
Chr13:75936208 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1364C>T (p.Ala455Val) single nucleotide variant not specified [RCV004474004] Chr13:75349214 [GRCh38]
Chr13:75923350 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1379C>A (p.Ser460Tyr) single nucleotide variant not specified [RCV004474005] Chr13:75349199 [GRCh38]
Chr13:75923335 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1691A>G (p.Lys564Arg) single nucleotide variant not specified [RCV004474007] Chr13:75336961 [GRCh38]
Chr13:75911097 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1741A>G (p.Arg581Gly) single nucleotide variant not specified [RCV004474008] Chr13:75327817 [GRCh38]
Chr13:75901953 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1004C>T (p.Pro335Leu) single nucleotide variant not specified [RCV004682014] Chr13:75362102 [GRCh38]
Chr13:75936238 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.110G>A (p.Arg37Gln) single nucleotide variant not specified [RCV004682017] Chr13:75481658 [GRCh38]
Chr13:76055794 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.707G>C (p.Arg236Pro) single nucleotide variant not specified [RCV004673456] Chr13:75362399 [GRCh38]
Chr13:75936535 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.177G>A (p.Met59Ile) single nucleotide variant not specified [RCV004673457] Chr13:75481591 [GRCh38]
Chr13:76055727 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3343G>A (p.Val1115Ile) single nucleotide variant not specified [RCV004673458] Chr13:75292245 [GRCh38]
Chr13:75866381 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1921C>T (p.His641Tyr) single nucleotide variant not specified [RCV004673460] Chr13:75326309 [GRCh38]
Chr13:75900445 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.696C>G (p.His232Gln) single nucleotide variant not specified [RCV004673461] Chr13:75362410 [GRCh38]
Chr13:75936546 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2597G>A (p.Ser866Asn) single nucleotide variant not specified [RCV004673462] Chr13:75306468 [GRCh38]
Chr13:75880604 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.351C>A (p.Phe117Leu) single nucleotide variant not specified [RCV004673463] Chr13:75481417 [GRCh38]
Chr13:76055553 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.28G>A (p.Glu10Lys) single nucleotide variant not specified [RCV004673465] Chr13:75481740 [GRCh38]
Chr13:76055876 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1609T>C (p.Ser537Pro) single nucleotide variant not specified [RCV004673459] Chr13:75341127 [GRCh38]
Chr13:75915263 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3745C>T (p.Arg1249Trp) single nucleotide variant TBC1D4-related disorder [RCV004754144] Chr13:75286944 [GRCh38]
Chr13:75861080 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2664G>C (p.Glu888Asp) single nucleotide variant Diabetes mellitus, noninsulin-dependent, 5 [RCV005006982] Chr13:75306401 [GRCh38]
Chr13:75880537 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3 copy number gain not provided [RCV004819310] Chr13:19436287..92292639 [GRCh37]
Chr13:13q11-31.3		 pathogenic
NM_014832.5(TBC1D4):c.2786A>G (p.Gln929Arg) single nucleotide variant not specified [RCV004869426] Chr13:75302368 [GRCh38]
Chr13:75876504 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1549C>T (p.His517Tyr) single nucleotide variant not specified [RCV004869427] Chr13:75341187 [GRCh38]
Chr13:75915323 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3194A>G (p.Tyr1065Cys) single nucleotide variant not specified [RCV004869428] Chr13:75294976 [GRCh38]
Chr13:75869112 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3752T>C (p.Leu1251Pro) single nucleotide variant not specified [RCV004869429] Chr13:75286937 [GRCh38]
Chr13:75861073 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.684G>T (p.Lys228Asn) single nucleotide variant not specified [RCV004869422] Chr13:75362422 [GRCh38]
Chr13:75936558 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1118C>G (p.Thr373Ser) single nucleotide variant not specified [RCV004869423] Chr13:75359821 [GRCh38]
Chr13:75933957 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.1805A>C (p.Lys602Thr) single nucleotide variant not specified [RCV004869424] Chr13:75327753 [GRCh38]
Chr13:75901889 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.3337A>G (p.Thr1113Ala) single nucleotide variant not specified [RCV004869425] Chr13:75292251 [GRCh38]
Chr13:75866387 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.152C>T (p.Thr51Met) single nucleotide variant not specified [RCV004869432] Chr13:75481616 [GRCh38]
Chr13:76055752 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2585A>G (p.Lys862Arg) single nucleotide variant not specified [RCV004869433] Chr13:75309950 [GRCh38]
Chr13:75884086 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.151A>G (p.Thr51Ala) single nucleotide variant not specified [RCV005283045] Chr13:75481617 [GRCh38]
Chr13:76055753 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.2102C>A (p.Thr701Asn) single nucleotide variant not specified [RCV005283046] Chr13:75324333 [GRCh38]
Chr13:75898469 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.214G>T (p.Gly72Cys) single nucleotide variant not specified [RCV005289444] Chr13:75481554 [GRCh38]
Chr13:76055690 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_014832.5(TBC1D4):c.154C>G (p.Leu52Val) single nucleotide variant not specified [RCV005289446] Chr13:75481614 [GRCh38]
Chr13:76055750 [GRCh37]
Chr13:13q22.2		 uncertain significance
Single allele deletion Waardenburg syndrome type 4A [RCV005255068] Chr13:70363696..79853892 [GRCh38]
Chr13:13q21.33-31.1		 pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR98hsa-miR-98-3pTarbaseexternal_infoMicroarrayPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:4483
Count of miRNA genes:882
Interacting mature miRNAs:1010
Transcripts:ENST00000377625, ENST00000377636, ENST00000413735, ENST00000425511, ENST00000431480, ENST00000478591, ENST00000488955, ENST00000493487
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407322306GWAS971282_Hhematocrit QTL GWAS971282 (human)7e-10hematocrit137548146675481467Human
597218845GWAS1314919_Hbody height QTL GWAS1314919 (human)3e-10body height137530694475306945Human
598015905GWAS1735204_Hred blood cell density QTL GWAS1735204 (human)2e-15red blood cell density137548146675481467Human
628482035GWAS2390264_Hmean corpuscular hemoglobin QTL GWAS2390264 (human)4e-08erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)137548096075480961Human
597068049GWAS1164123_Hmean corpuscular volume QTL GWAS1164123 (human)4e-10mean corpuscular volume137548096075480961Human
597041951GWAS1138025_Htype 2 diabetes mellitus QTL GWAS1138025 (human)1e-14type 2 diabetes mellitus137532402775324028Human
2289192BW359_HBody weight QTL 359 (human)0.0344Body fat amountpercent fat134998940475989404Human
597055002GWAS1151076_Heosinophil count QTL GWAS1151076 (human)2e-09eosinophil count137530038575300386Human
407000141GWAS649117_Hmean platelet volume QTL GWAS649117 (human)9e-18mean platelet volume137548126175481262Human
407201738GWAS850714_Hhuman papilloma virus infection, oral cavity cancer QTL GWAS850714 (human)0.000005human papilloma virus infection, oral cavity cancer137532923275329233Human
628830196GWAS2738425_Herythrocyte count QTL GWAS2738425 (human)7e-42erythrocyte countred blood cell count (CMO:0000025)137548146675481467Human
626441670GWAS2255603_Heosinophil count QTL GWAS2255603 (human)2e-09eosinophil count137530038575300386Human
407057234GWAS706210_Heosinophil count QTL GWAS706210 (human)2e-09eosinophil count137530038575300386Human
597102340GWAS1198414_Herythrocyte count QTL GWAS1198414 (human)5e-45erythrocyte countred blood cell count (CMO:0000025)137548146675481467Human
597161602GWAS1257676_Hmean corpuscular volume QTL GWAS1257676 (human)2e-14mean corpuscular volume137548096075480961Human
616962384GWAS1979883_Hplatelet volume QTL GWAS1979883 (human)9e-18platelet volume137548126175481262Human
616960976GWAS1978475_Hplatelet volume QTL GWAS1978475 (human)1e-19platelet volume137548126175481262Human
628907749GWAS2815978_Hamount of iron in brain QTL GWAS2815978 (human)1e-08amount of iron in brain137538058375380584Human
597083277GWAS1179351_Hmean platelet volume QTL GWAS1179351 (human)1e-19mean platelet volume137548126175481262Human
616995165GWAS2012664_Herythrocyte volume QTL GWAS2012664 (human)4e-10erythrocyte volume137548096075480961Human
597298565GWAS1394639_Hhematocrit QTL GWAS1394639 (human)7e-10hematocrit137548146675481467Human
628424938GWAS2333167_Htype 2 diabetes mellitus QTL GWAS2333167 (human)1e-14type 2 diabetes mellitus137532402775324028Human
407106274GWAS755250_Herythrocyte count QTL GWAS755250 (human)5e-45erythrocyte count137548146675481467Human
616519965GWAS1916548_Hplatelet volume QTL GWAS1916548 (human)1e-18platelet volume137548126175481262Human
407248741GWAS897717_Hbody height QTL GWAS897717 (human)4e-10body height137547508375475084Human
597068213GWAS1164287_Hmean corpuscular hemoglobin QTL GWAS1164287 (human)4e-08mean corpuscular hemoglobin137548096075480961Human
407155689GWAS804665_Htype 2 diabetes mellitus QTL GWAS804665 (human)1e-14type 2 diabetes mellitus137532402775324028Human
597040440GWAS1136514_Hglucose tolerance test QTL GWAS1136514 (human)4e-17glucose tolerance test137532402775324028Human
628687319GWAS2595548_Herythrocyte count QTL GWAS2595548 (human)1e-48erythrocyte countred blood cell count (CMO:0000025)137548146675481467Human
407189482GWAS838458_Hmean corpuscular volume QTL GWAS838458 (human)2e-14mean corpuscular volume137548096075480961Human
616994921GWAS2012420_Hmean corpuscular hemoglobin QTL GWAS2012420 (human)4e-08mean corpuscular hemoglobin137548096075480961Human
597107111GWAS1203185_Hcytokine measurement QTL GWAS1203185 (human)0.000006cytokine amount (VT:0008713)blood cytokine measurement (CMO:0001924)137532349975323500Human
406988784GWAS637760_Hmean corpuscular hemoglobin concentration QTL GWAS637760 (human)2e-10mean corpuscular hemoglobin concentration137548146675481467Human
597984144GWAS1703443_Hplatelet volume QTL GWAS1703443 (human)9e-18platelet volume137548126175481262Human
406905717GWAS554693_Hrenal agenesis, unilateral QTL GWAS554693 (human)0.000003renal agenesis, unilateral137537576675375767Human
628569409GWAS2477638_Hhuman papilloma virus infection, oral cavity cancer QTL GWAS2477638 (human)0.000005response to viral infection trait (VT:0010439)137532923275329233Human
628815308GWAS2723537_Hplatelet volume QTL GWAS2723537 (human)1e-18platelet volume137548126175481262Human
597612457GWAS1669317_Hinjury QTL GWAS1669317 (human)3e-11injury137533100275331003Human
628608077GWAS2516306_Hmean corpuscular hemoglobin QTL GWAS2516306 (human)3e-12erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)137548146675481467Human
407012988GWAS661964_Hmean platelet volume QTL GWAS661964 (human)1e-19mean platelet volume137548126175481262Human
626455016GWAS2268949_Haspartate aminotransferase measurement QTL GWAS2268949 (human)2e-08aspartate aminotransferase measurement137538647475386475Human
407057923GWAS706899_Hguanosine diphosphate measurement QTL GWAS706899 (human)0.000003guanosine diphosphate measurement137529038175290382Human
616553471GWAS1950054_Herythrocyte count QTL GWAS1950054 (human)7e-42erythrocyte count137548146675481467Human
626453398GWAS2267331_Hhemoglobin measurement QTL GWAS2267331 (human)7e-21hemoglobin measurement137548146675481467Human
407369220GWAS1018196_Hvenous thromboembolism QTL GWAS1018196 (human)0.000002blood integrity trait (VT:0010779)137529502675295027Human
597995104GWAS1714403_Herythrocyte volume QTL GWAS1714403 (human)4e-10erythrocyte volume137548096075480961Human
407085321GWAS734297_Hmean corpuscular volume QTL GWAS734297 (human)4e-10mean corpuscular volume137548096075480961Human
407062543GWAS711519_Hred blood cell density measurement QTL GWAS711519 (human)3e-67red blood cell density measurement137548146675481467Human
597218005GWAS1314079_Hbody height QTL GWAS1314079 (human)4e-10body height137547508375475084Human
597307850GWAS1403924_Herythrocyte count QTL GWAS1403924 (human)1e-48erythrocyte count137548146675481467Human
597984116GWAS1703415_Hplatelet volume QTL GWAS1703415 (human)1e-19platelet volume137548126175481262Human
628963116GWAS2871345_Hhemoglobin measurement QTL GWAS2871345 (human)7e-21blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)137548146675481467Human
617038099GWAS2055598_Herythrocyte volume QTL GWAS2055598 (human)2e-14erythrocyte volume137548096075480961Human
628986792GWAS2895021_Hbody height QTL GWAS2895021 (human)4e-10body height137547508375475084Human
628526112GWAS2434341_Hhematocrit QTL GWAS2434341 (human)7e-10erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)137548146675481467Human
407265052GWAS914028_Hbody height QTL GWAS914028 (human)3e-10body height137530694475306945Human
597260999GWAS1357073_Hhuman papilloma virus infection, oral cavity cancer QTL GWAS1357073 (human)0.000005human papilloma virus infection, oral cavity cancer137532923275329233Human
628418730GWAS2326959_Hglucose tolerance test QTL GWAS2326959 (human)4e-17glucose tolerance test137532402775324028Human
598092025GWAS1811324_Herythrocyte volume QTL GWAS1811324 (human)2e-14erythrocyte volume137548096075480961Human
407187493GWAS836469_Hmean corpuscular hemoglobin QTL GWAS836469 (human)3e-12mean corpuscular hemoglobin137548146675481467Human
628997535GWAS2905764_Hbody height QTL GWAS2905764 (human)3e-10body height137530694475306945Human
597261437GWAS1357511_Hmean corpuscular hemoglobin QTL GWAS1357511 (human)3e-12mean corpuscular hemoglobin137548146675481467Human
598016193GWAS1735492_Hred blood cell density QTL GWAS1735492 (human)3e-67red blood cell density137548146675481467Human
628999194GWAS2907423_Hinjury QTL GWAS2907423 (human)3e-11injury137533100275331003Human
598056013GWAS1775312_Hbody height QTL GWAS1775312 (human)4e-10body height137547508375475084Human
597081338GWAS1177412_Hmean platelet volume QTL GWAS1177412 (human)9e-18mean platelet volume137548126175481262Human
597333110GWAS1429184_Hrenal agenesis, unilateral QTL GWAS1429184 (human)0.000003renal agenesis, unilateral137537576675375767Human
628611866GWAS2520095_Herythrocyte volume QTL GWAS2520095 (human)2e-14erythrocyte volume137548096075480961Human
616383443GWAS1863685_Hamount of iron in brain QTL GWAS1863685 (human)1e-08amount of iron in brain137538058375380584Human
628430491GWAS2338720_Heosinophil count QTL GWAS2338720 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)137530038575300386Human
628912146GWAS2820375_Haspartate aminotransferase measurement QTL GWAS2820375 (human)2e-08blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)137538647475386475Human
597080678GWAS1176752_Hred blood cell density measurement QTL GWAS1176752 (human)2e-15red blood cell density measurement137548146675481467Human
406925111GWAS574087_Hglucose tolerance test QTL GWAS574087 (human)4e-17glucose tolerance test137532402775324028Human
407066549GWAS715525_Hred blood cell density measurement QTL GWAS715525 (human)2e-15red blood cell density measurement137548146675481467Human
407088181GWAS737157_Hmean corpuscular hemoglobin QTL GWAS737157 (human)4e-08mean corpuscular hemoglobin137548096075480961Human
407362865GWAS1011841_Herythrocyte count QTL GWAS1011841 (human)1e-48erythrocyte count137548146675481467Human
617094450GWAS2111949_Hplatelet volume QTL GWAS2111949 (human)1e-18platelet volume137548126175481262Human
628446094GWAS2354323_Hmean corpuscular hemoglobin concentration QTL GWAS2354323 (human)2e-10erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)137548146675481467Human
628482446GWAS2390675_Herythrocyte volume QTL GWAS2390675 (human)4e-10erythrocyte volume137548096075480961Human
628849664GWAS2757893_Hrenal agenesis, unilateral QTL GWAS2757893 (human)0.000003renal agenesis, unilateral137537576675375767Human
598067801GWAS1787100_Hbody height QTL GWAS1787100 (human)3e-10body height137530694475306945Human
597080299GWAS1176373_Hred blood cell density measurement QTL GWAS1176373 (human)3e-67red blood cell density measurement137548146675481467Human
407216826GWAS865802_Hcytokine measurement QTL GWAS865802 (human)0.000006cytokine measurement137532349975323500Human

Markers in Region
D13S162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,976,667 - 75,976,773UniSTSGRCh37
GRCh371375,976,667 - 75,976,858UniSTSGRCh37
Build 361374,874,668 - 74,874,859RGDNCBI36
Celera1356,874,516 - 56,874,713RGD
Celera1356,874,516 - 56,874,622UniSTS
HuRef1356,674,067 - 56,674,173UniSTS
HuRef1356,674,067 - 56,674,264UniSTS
Marshfield Genetic Map1358.54RGD
Genethon Genetic Map1359.7UniSTS
TNG Radiation Hybrid Map1326289.0UniSTS
deCODE Assembly Map1371.55UniSTS
GeneMap99-GB4 RH Map13217.58UniSTS
Whitehead-RH Map13194.4UniSTS
Whitehead-YAC Contig Map13 UniSTS
GeneMap99-G3 RH Map131995.0UniSTS
RH39895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37636,458,726 - 36,458,871UniSTSGRCh37
Build 36636,566,704 - 36,566,849RGDNCBI36
Celera1356,832,685 - 56,832,832UniSTS
Celera638,013,766 - 38,013,911RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,632,132 - 56,632,279UniSTS
HuRef636,177,591 - 36,177,736UniSTS
G67124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,981,228 - 75,981,325UniSTSGRCh37
Build 361374,879,229 - 74,879,326RGDNCBI36
Celera1356,879,090 - 56,879,187RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,678,638 - 56,678,735UniSTS
G67123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371376,000,720 - 76,000,795UniSTSGRCh37
Build 361374,898,721 - 74,898,796RGDNCBI36
Celera1356,898,590 - 56,898,665RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,698,138 - 56,698,213UniSTS
G67150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,865,737 - 75,865,855UniSTSGRCh37
Build 361374,763,738 - 74,763,856RGDNCBI36
Celera1356,763,623 - 56,763,741RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,563,088 - 56,563,206UniSTS
G67122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,947,935 - 75,948,033UniSTSGRCh37
Build 361374,845,936 - 74,846,034RGDNCBI36
Celera1356,845,800 - 56,845,898RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,645,243 - 56,645,341UniSTS
G67152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,975,226 - 75,975,326UniSTSGRCh37
Build 361374,873,227 - 74,873,327RGDNCBI36
Celera1356,873,075 - 56,873,175RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,672,626 - 56,672,726UniSTS
D13S1618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,969,609 - 75,969,871UniSTSGRCh37
Build 361374,867,610 - 74,867,872RGDNCBI36
Celera1356,867,459 - 56,867,721RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,667,009 - 56,667,271UniSTS
D13S1619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,993,821 - 75,994,041UniSTSGRCh37
Build 361374,891,822 - 74,892,042RGDNCBI36
Celera1356,891,685 - 56,891,905RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,691,233 - 56,691,453UniSTS
RH68592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,892,047 - 75,892,169UniSTSGRCh37
Build 361374,790,048 - 74,790,170RGDNCBI36
Celera1356,789,930 - 56,790,052RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,589,410 - 56,589,532UniSTS
GeneMap99-GB4 RH Map13216.26UniSTS
TBC1D4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371375,868,996 - 75,869,132UniSTSGRCh37
Celera1356,766,883 - 56,767,019UniSTS
HuRef1356,566,346 - 56,566,482UniSTS
D13S162  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q22.2UniSTS
GeneMap99-GB4 RH Map13217.58UniSTS
GeneMap99-G3 RH Map131995.0UniSTS
D13S162  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q22.2UniSTS
Marshfield Genetic Map1358.54UniSTS
Genethon Genetic Map1359.7UniSTS
TNG Radiation Hybrid Map1326289.0UniSTS
deCODE Assembly Map1371.55UniSTS
Whitehead-RH Map13194.4UniSTS
Whitehead-YAC Contig Map13 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2250 4971 1726 2351 5 624 1942 465 2269 7299 6465 53 3732 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY211910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA448893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM207106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM207107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000377625   ⟹   ENSP00000366852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,665 - 75,482,114 (-)Ensembl
Ensembl Acc Id: ENST00000377636   ⟹   ENSP00000366863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,283,503 - 75,482,169 (-)Ensembl
Ensembl Acc Id: ENST00000413735   ⟹   ENSP00000396932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,310,035 - 75,341,531 (-)Ensembl
Ensembl Acc Id: ENST00000431480   ⟹   ENSP00000395986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,665 - 75,482,114 (-)Ensembl
Ensembl Acc Id: ENST00000478591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,294,865 - 75,302,821 (-)Ensembl
Ensembl Acc Id: ENST00000488955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,312,782 - 75,326,250 (-)Ensembl
Ensembl Acc Id: ENST00000493487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,306,466 - 75,316,552 (-)Ensembl
Ensembl Acc Id: ENST00000648194   ⟹   ENSP00000496983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,283,503 - 75,367,015 (-)Ensembl
Ensembl Acc Id: ENST00000881333   ⟹   ENSP00000551392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,673 - 75,482,487 (-)Ensembl
Ensembl Acc Id: ENST00000954254   ⟹   ENSP00000624313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,673 - 75,482,651 (-)Ensembl
Ensembl Acc Id: ENST00000954255   ⟹   ENSP00000624314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,673 - 75,482,649 (-)Ensembl
Ensembl Acc Id: ENST00000954256   ⟹   ENSP00000624315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,672 - 75,482,506 (-)Ensembl
Ensembl Acc Id: ENST00000954257   ⟹   ENSP00000624316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,676 - 75,482,325 (-)Ensembl
Ensembl Acc Id: ENST00000954258   ⟹   ENSP00000624317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,284,674 - 75,482,160 (-)Ensembl
RefSeq Acc Id: NM_001286658   ⟹   NP_001273587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,284,664 - 75,482,168 (-)NCBI
HuRef1356,556,150 - 56,753,666 (-)NCBI
CHM1_11375,826,526 - 76,024,040 (-)NCBI
T2T-CHM13v2.01374,508,343 - 74,705,798 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286659   ⟹   NP_001273588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,284,664 - 75,482,168 (-)NCBI
HuRef1356,556,150 - 56,753,666 (-)NCBI
CHM1_11375,826,526 - 76,024,040 (-)NCBI
T2T-CHM13v2.01374,508,343 - 74,705,798 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014832   ⟹   NP_055647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
GRCh371375,858,809 - 76,056,782 (-)NCBI
Build 361374,756,810 - 74,954,251 (-)NCBI Archive
HuRef1356,556,150 - 56,753,666 (-)NCBI
CHM1_11375,826,526 - 76,024,040 (-)NCBI
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266603   ⟹   XP_005266660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719903   ⟹   XP_006719966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,410,641 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535331   ⟹   XP_011533633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430808   ⟹   XP_047286764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
RefSeq Acc Id: XM_047430809   ⟹   XP_047286765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
RefSeq Acc Id: XM_047430810   ⟹   XP_047286766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
RefSeq Acc Id: XM_047430811   ⟹   XP_047286767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,482,169 (-)NCBI
RefSeq Acc Id: XM_047430812   ⟹   XP_047286768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,283,503 - 75,326,770 (-)NCBI
RefSeq Acc Id: XM_054375228   ⟹   XP_054231203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
RefSeq Acc Id: XM_054375229   ⟹   XP_054231204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
RefSeq Acc Id: XM_054375230   ⟹   XP_054231205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
RefSeq Acc Id: XM_054375231   ⟹   XP_054231206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
RefSeq Acc Id: XM_054375232   ⟹   XP_054231207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
RefSeq Acc Id: XM_054375233   ⟹   XP_054231208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,705,799 (-)NCBI
RefSeq Acc Id: XM_054375234   ⟹   XP_054231209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,634,270 (-)NCBI
RefSeq Acc Id: XM_054375235   ⟹   XP_054231210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,507,182 - 74,550,464 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001273587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273588 (Get FASTA)   NCBI Sequence Viewer  
  NP_055647 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266660 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719966 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533633 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286764 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286765 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286766 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286767 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286768 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231210 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI51240 (Get FASTA)   NCBI Sequence Viewer  
  BAA25529 (Get FASTA)   NCBI Sequence Viewer  
  BAG62187 (Get FASTA)   NCBI Sequence Viewer  
  BAG64997 (Get FASTA)   NCBI Sequence Viewer  
  BAH16628 (Get FASTA)   NCBI Sequence Viewer  
  CAH18416 (Get FASTA)   NCBI Sequence Viewer  
  CAR62509 (Get FASTA)   NCBI Sequence Viewer  
  CAR62510 (Get FASTA)   NCBI Sequence Viewer  
  EAW80536 (Get FASTA)   NCBI Sequence Viewer  
  EAW80537 (Get FASTA)   NCBI Sequence Viewer  
  EAW80538 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366852
  ENSP00000366852.2
  ENSP00000366863
  ENSP00000366863.3
  ENSP00000395986
  ENSP00000395986.2
  ENSP00000551392
  ENSP00000624313
  ENSP00000624315
  ENSP00000624317
GenBank Protein O60343 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055647   ⟸   NM_014832
- Peptide Label: isoform 1
- UniProtKB: Q5W0B9 (UniProtKB/Swiss-Prot),   B6ETN9 (UniProtKB/Swiss-Prot),   B6ETN8 (UniProtKB/Swiss-Prot),   B4E235 (UniProtKB/Swiss-Prot),   B4DU25 (UniProtKB/Swiss-Prot),   A7E2X8 (UniProtKB/Swiss-Prot),   Q68D14 (UniProtKB/Swiss-Prot),   O60343 (UniProtKB/Swiss-Prot),   A0A3B3IRT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266660   ⟸   XM_005266603
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273588   ⟸   NM_001286659
- Peptide Label: isoform 3
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273587   ⟸   NM_001286658
- Peptide Label: isoform 2
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719966   ⟸   XM_006719903
- Peptide Label: isoform X7
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533633   ⟸   XM_011535331
- Peptide Label: isoform X3
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000496983   ⟸   ENST00000648194
Ensembl Acc Id: ENSP00000396932   ⟸   ENST00000413735
Ensembl Acc Id: ENSP00000366863   ⟸   ENST00000377636
Ensembl Acc Id: ENSP00000366852   ⟸   ENST00000377625
Ensembl Acc Id: ENSP00000395986   ⟸   ENST00000431480
RefSeq Acc Id: XP_047286767   ⟸   XM_047430811
- Peptide Label: isoform X6
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286766   ⟸   XM_047430810
- Peptide Label: isoform X5
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286765   ⟸   XM_047430809
- Peptide Label: isoform X4
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286764   ⟸   XM_047430808
- Peptide Label: isoform X2
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286768   ⟸   XM_047430812
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054231208   ⟸   XM_054375233
- Peptide Label: isoform X6
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231207   ⟸   XM_054375232
- Peptide Label: isoform X5
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231205   ⟸   XM_054375230
- Peptide Label: isoform X3
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231206   ⟸   XM_054375231
- Peptide Label: isoform X4
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231204   ⟸   XM_054375229
- Peptide Label: isoform X2
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231203   ⟸   XM_054375228
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231209   ⟸   XM_054375234
- Peptide Label: isoform X7
- UniProtKB: A0A3B3IRT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231210   ⟸   XM_054375235
- Peptide Label: isoform X8
Ensembl Acc Id: ENSP00000624317   ⟸   ENST00000954258
Ensembl Acc Id: ENSP00000624316   ⟸   ENST00000954257
Ensembl Acc Id: ENSP00000551392   ⟸   ENST00000881333
Ensembl Acc Id: ENSP00000624315   ⟸   ENST00000954256
Ensembl Acc Id: ENSP00000624313   ⟸   ENST00000954254
Ensembl Acc Id: ENSP00000624314   ⟸   ENST00000954255
Protein Domains
PID   Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60343-F1-model_v2 AlphaFold O60343 1-1298 view protein structure

Promoters
RGD ID:6791146
Promoter ID:HG_KWN:18109
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000045284
Position:
Human AssemblyChrPosition (strand)Source
Build 361374,775,581 - 74,776,081 (-)MPROMDB
RGD ID:6791166
Promoter ID:HG_KWN:18111
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000045285,   UC001VJM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361374,798,441 - 74,799,057 (-)MPROMDB
RGD ID:6791148
Promoter ID:HG_KWN:18113
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000045286
Position:
Human AssemblyChrPosition (strand)Source
Build 361374,813,136 - 74,813,636 (-)MPROMDB
RGD ID:6791147
Promoter ID:HG_KWN:18115
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377625,   OTTHUMT00000045283,   UC010AES.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361374,953,526 - 74,954,467 (-)MPROMDB
RGD ID:7226587
Promoter ID:EPDNEW_H19040
Type:initiation region
Name:TBC1D4_1
Description:TBC1 domain family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19041  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,482,169 - 75,482,229EPDNEW
RGD ID:7226591
Promoter ID:EPDNEW_H19041
Type:initiation region
Name:TBC1D4_2
Description:TBC1 domain family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19040  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,482,394 - 75,482,454EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19165 AgrOrtholog
COSMIC TBC1D4 COSMIC
Ensembl Genes ENSG00000136111 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377625 ENTREZGENE
  ENST00000377625.6 UniProtKB/Swiss-Prot
  ENST00000377636 ENTREZGENE
  ENST00000377636.8 UniProtKB/Swiss-Prot
  ENST00000431480 ENTREZGENE
  ENST00000431480.6 UniProtKB/Swiss-Prot
  ENST00000881333 ENTREZGENE
  ENST00000954254 ENTREZGENE
  ENST00000954256 ENTREZGENE
  ENST00000954258 ENTREZGENE
Gene3D-CATH 1.10.10.2750 UniProtKB/Swiss-Prot
  2.30.29.30 UniProtKB/Swiss-Prot
  putative rabgap domain of human tbc1 domain family member 14 like domains UniProtKB/Swiss-Prot
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot
GTEx ENSG00000136111 GTEx
HGNC ID HGNC:19165 ENTREZGENE
Human Proteome Map TBC1D4 Human Proteome Map
InterPro DUF3350 UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PTB/PI_dom UniProtKB/Swiss-Prot
  Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot
  Rab_GAP_TBC_domain UniProtKB/Swiss-Prot
KEGG Report hsa:9882 UniProtKB/Swiss-Prot
NCBI Gene 9882 ENTREZGENE
OMIM 612465 OMIM
PANTHER RAB GTPASE-ACTIVATING PROTEIN 1-LIKE UniProtKB/Swiss-Prot
  TBC1 DOMAIN FAMILY MEMBER 4 UniProtKB/Swiss-Prot
Pfam DUF3350 UniProtKB/Swiss-Prot
  PID UniProtKB/Swiss-Prot
  RabGAP-TBC UniProtKB/Swiss-Prot
PharmGKB PA38807 PharmGKB
PROSITE PID UniProtKB/Swiss-Prot
  TBC_RABGAP UniProtKB/Swiss-Prot
SMART PTB UniProtKB/Swiss-Prot
  TBC UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
  SSF47923 UniProtKB/Swiss-Prot
UniProt A0A3B3IRT3 ENTREZGENE, UniProtKB/TrEMBL
  A7E2X8 ENTREZGENE
  B4DU25 ENTREZGENE
  B4E235 ENTREZGENE
  B6ETN8 ENTREZGENE
  B6ETN9 ENTREZGENE
  O60343 ENTREZGENE
  Q5JU47_HUMAN UniProtKB/TrEMBL
  Q5W0B9 ENTREZGENE
  Q68D14 ENTREZGENE
  TBCD4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A7E2X8 UniProtKB/Swiss-Prot
  B4DU25 UniProtKB/Swiss-Prot
  B4E235 UniProtKB/Swiss-Prot
  B6ETN8 UniProtKB/Swiss-Prot
  B6ETN9 UniProtKB/Swiss-Prot
  Q5W0B9 UniProtKB/Swiss-Prot
  Q68D14 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D4  TBC1 domain family member 4    TBC1 domain family, member 4  Symbol and/or name change 5135510 APPROVED