DEF6 (DEF6 guanine nucleotide exchange factor) - Rat Genome Database

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Gene: DEF6 (DEF6 guanine nucleotide exchange factor) Homo sapiens
Analyze
Symbol: DEF6
Name: DEF6 guanine nucleotide exchange factor
RGD ID: 1317434
HGNC Page HGNC:2760
Description: Predicted to enable guanyl-nucleotide exchange factor activity. Involved in vesicle-mediated transport to the plasma membrane. Located in cytosol and nucleoplasm. Implicated in primary immunodeficiency disease.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DEF-6; DEF6, guanine nucleotide exchange factor; differentially expressed in FDCP 6 homolog; IBP; IMD87; IRF4-binding protein; SLAT; SWAP-70-like adaptor protein of T cells; SWAP70L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh38635,297,818 - 35,321,771 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl635,297,818 - 35,321,771 (+)EnsemblGRCh38hg38GRCh38
GRCh37635,265,595 - 35,289,548 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36635,373,573 - 35,397,526 (+)NCBINCBI36Build 36hg18NCBI36
Build 34635,373,572 - 35,397,524NCBI
Celera636,819,554 - 36,843,506 (+)NCBICelera
Cytogenetic Map6p21.31NCBI
HuRef634,986,813 - 35,010,534 (+)NCBIHuRef
CHM1_1635,267,635 - 35,291,597 (+)NCBICHM1_1
T2T-CHM13v2.0635,120,899 - 35,144,853 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
alpha-Zearalanol  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
camptothecin  (EXP)
carmustine  (EXP)
CGP 52608  (EXP)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
DDT  (ISO)
Dibutyl phosphate  (EXP)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
ethylparaben  (EXP)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
mercaptopurine  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
nickel atom  (EXP)
Nutlin-3  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
pirinixic acid  (ISO)
purine-6-thiol  (ISO)
puromycin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
temozolomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lymphocyte proliferation  (IAGP)
Anasarca  (IAGP)
Anticardiolipin IgG antibody positivity  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Atrophic gastritis  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biventricular hypertrophy  (IAGP)
Cervical lymphadenopathy  (IAGP)
Childhood onset  (IAGP)
Cholestasis  (IAGP)
Cleft palate  (IAGP)
Decreased CD4:CD8 ratio  (IAGP)
Decreased proportion of CD4-positive T cells  (IAGP)
Dilated cardiomyopathy  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Feeding difficulties  (IAGP)
Fetal onset  (IAGP)
Growth delay  (IAGP)
Hemolytic anemia  (IAGP)
Hepatic failure  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
Hodgkin lymphoma  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypokalemia  (IAGP)
Increased fecal calprotectin level  (IAGP)
Infantile onset  (IAGP)
Intrauterine growth retardation  (IAGP)
Inverted nipples  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Lymphopenia  (IAGP)
Metabolic acidosis  (IAGP)
Necrotizing enterocolitis  (IAGP)
Oligohydramnios  (IAGP)
Perianal dermatitis  (IAGP)
Perinuclear antineutrophil antibody positivity  (IAGP)
Persistent EBV viremia  (IAGP)
Pleural effusion  (IAGP)
Premature rupture of membranes  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent fever  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent viral infections  (IAGP)
Secretory diarrhea  (IAGP)
Sepsis  (IAGP)
Severe cytomegalovirus infection  (IAGP)
Small for gestational age  (IAGP)
Third degree atrioventricular block  (IAGP)
Thrombocytopenia  (IAGP)
Villous atrophy  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12648457   PMID:12651066   PMID:12923183   PMID:14702039   PMID:15023524   PMID:16189514   PMID:17121847   PMID:18029348   PMID:18391951   PMID:19251698   PMID:19393345  
PMID:19423540   PMID:19679060   PMID:19946888   PMID:20406964   PMID:20438785   PMID:20546612   PMID:21832049   PMID:21873635   PMID:22829599   PMID:23088770   PMID:25416956   PMID:26186194  
PMID:27488395   PMID:28314855   PMID:28514442   PMID:30196744   PMID:30397336   PMID:31010829   PMID:31308374   PMID:31515488   PMID:32296183   PMID:32393512   PMID:32562707   PMID:33000227  
PMID:33111431   PMID:33961781   PMID:35748872   PMID:35944360   PMID:38569033  


Genomics

Comparative Map Data
DEF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38635,297,818 - 35,321,771 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl635,297,818 - 35,321,771 (+)EnsemblGRCh38hg38GRCh38
GRCh37635,265,595 - 35,289,548 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36635,373,573 - 35,397,526 (+)NCBINCBI36Build 36hg18NCBI36
Build 34635,373,572 - 35,397,524NCBI
Celera636,819,554 - 36,843,506 (+)NCBICelera
Cytogenetic Map6p21.31NCBI
HuRef634,986,813 - 35,010,534 (+)NCBIHuRef
CHM1_1635,267,635 - 35,291,597 (+)NCBICHM1_1
T2T-CHM13v2.0635,120,899 - 35,144,853 (+)NCBIT2T-CHM13v2.0
Def6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391728,426,752 - 28,447,582 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1728,426,752 - 28,447,582 (+)EnsemblGRCm39 Ensembl
GRCm381728,207,456 - 28,228,608 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1728,207,778 - 28,228,608 (+)EnsemblGRCm38mm10GRCm38
MGSCv371728,344,723 - 28,365,553 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361727,935,419 - 27,956,188 (+)NCBIMGSCv36mm8
Celera1728,761,659 - 28,782,259 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1714.64NCBI
Def6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8206,270,323 - 6,291,724 (+)NCBIGRCr8
mRatBN7.2206,268,579 - 6,290,030 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl206,268,601 - 6,289,961 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx206,981,182 - 7,002,247 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0206,343,008 - 6,364,079 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0206,822,253 - 6,843,219 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0207,788,120 - 7,809,011 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl207,788,084 - 7,809,560 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0209,988,008 - 10,010,102 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4206,391,694 - 6,469,830 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1206,448,811 - 6,470,576 (+)NCBI
Celera207,825,022 - 7,845,913 (+)NCBICelera
Cytogenetic Map20p12NCBI
Def6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554373,252,028 - 3,278,237 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554373,252,028 - 3,275,512 (+)NCBIChiLan1.0ChiLan1.0
DEF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2549,764,669 - 49,790,260 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1645,634,176 - 45,658,230 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0634,860,220 - 34,884,371 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1635,955,912 - 35,980,388 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl635,956,162 - 35,980,027 (+)Ensemblpanpan1.1panPan2
DEF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1124,463,512 - 4,483,544 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl124,463,913 - 4,483,556 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha124,478,730 - 4,499,661 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0124,800,619 - 4,821,496 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl124,802,218 - 4,821,508 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1124,459,470 - 4,482,912 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0124,540,563 - 4,561,489 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0124,640,733 - 4,661,670 (+)NCBIUU_Cfam_GSD_1.0
Def6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494640,037,366 - 40,056,319 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647623,903,693 - 23,921,426 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647623,903,917 - 23,922,927 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DEF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl731,193,858 - 31,216,414 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1731,191,788 - 31,216,436 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2736,220,769 - 36,244,783 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DEF6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11736,799,402 - 36,826,731 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1736,799,370 - 36,826,405 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604435,212,906 - 35,241,662 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Def6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475422,092,585 - 22,124,787 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475422,092,579 - 22,124,804 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DEF6
294 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497) copy number loss Severe intrauterine growth retardation [RCV001291973] Chr6:34401304..38435497 [GRCh37]
Chr6:6p21.31-21.2		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p21.31(chr6:35285720-35434273) copy number gain Abnormal esophagus morphology [RCV000416907] Chr6:35285720..35434273 [GRCh37]
Chr6:6p21.31		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3 copy number gain not provided [RCV000682660] Chr6:34683518..36905281 [GRCh37]
Chr6:6p21.31-21.2		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_022047.4(DEF6):c.528C>T (p.Thr176=) single nucleotide variant not provided [RCV000883205] Chr6:35312406 [GRCh38]
Chr6:35280183 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1733G>A (p.Arg578His) single nucleotide variant not provided [RCV000961711] Chr6:35321247 [GRCh38]
Chr6:35289024 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1862A>C (p.Gln621Pro) single nucleotide variant not provided [RCV000889604] Chr6:35321376 [GRCh38]
Chr6:35289153 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1618G>A (p.Val540Met) single nucleotide variant not provided [RCV001907541] Chr6:35320920 [GRCh38]
Chr6:35288697 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1184C>A (p.Ala395Glu) single nucleotide variant not provided [RCV001319727]|not specified [RCV004034982] Chr6:35318440 [GRCh38]
Chr6:35286217 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1715C>T (p.Pro572Leu) single nucleotide variant not provided [RCV001320003] Chr6:35321229 [GRCh38]
Chr6:35289006 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.330C>G (p.Asn110Lys) single nucleotide variant not provided [RCV001318411]|not specified [RCV004034935] Chr6:35310551 [GRCh38]
Chr6:35278328 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.926T>C (p.Met309Thr) single nucleotide variant not provided [RCV001300133] Chr6:35318182 [GRCh38]
Chr6:35285959 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1053G>C (p.Gln351His) single nucleotide variant not provided [RCV001316260] Chr6:35318309 [GRCh38]
Chr6:35286086 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1042C>T (p.Leu348=) single nucleotide variant not provided [RCV001513636] Chr6:35318298 [GRCh38]
Chr6:35286075 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1216-9C>T single nucleotide variant not provided [RCV001441306] Chr6:35319515 [GRCh38]
Chr6:35287292 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.916+10C>T single nucleotide variant not provided [RCV001446471] Chr6:35318009 [GRCh38]
Chr6:35285786 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.859A>C (p.Asn287His) single nucleotide variant not provided [RCV001511491] Chr6:35317942 [GRCh38]
Chr6:35285719 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_022047.4(DEF6):c.78C>T (p.Val26=) single nucleotide variant not provided [RCV001523080] Chr6:35297934 [GRCh38]
Chr6:35265711 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.916+4A>G single nucleotide variant not provided [RCV001510291] Chr6:35318003 [GRCh38]
Chr6:35285780 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.357C>T (p.Phe119=) single nucleotide variant not provided [RCV001520913] Chr6:35310578 [GRCh38]
Chr6:35278355 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_022047.4(DEF6):c.1542G>A (p.Glu514=) single nucleotide variant not provided [RCV001523651] Chr6:35319978 [GRCh38]
Chr6:35287755 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1617C>T (p.Asn539=) single nucleotide variant not provided [RCV001523652] Chr6:35320919 [GRCh38]
Chr6:35288696 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1582-6C>T single nucleotide variant not provided [RCV001523673] Chr6:35320878 [GRCh38]
Chr6:35288655 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1884A>C (p.Ala628=) single nucleotide variant not provided [RCV001515894] Chr6:35321398 [GRCh38]
Chr6:35289175 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.860A>C (p.Asn287Thr) single nucleotide variant not provided [RCV001518270]|not specified [RCV003487376] Chr6:35317943 [GRCh38]
Chr6:35285720 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1581+17G>T single nucleotide variant not provided [RCV001512444] Chr6:35320034 [GRCh38]
Chr6:35287811 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.216C>T (p.Leu72=) single nucleotide variant not provided [RCV001522660] Chr6:35309789 [GRCh38]
Chr6:35277566 [GRCh37]
Chr6:6p21.31		 benign|likely benign
NM_022047.4(DEF6):c.702C>T (p.Ala234=) single nucleotide variant not provided [RCV003106905] Chr6:35312667 [GRCh38]
Chr6:35280444 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.628T>G (p.Tyr210Asp) single nucleotide variant Immunodeficiency 87 and autoimmunity [RCV001731258] Chr6:35312506 [GRCh38]
Chr6:35280283 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_022047.4(DEF6):c.1224C>T (p.Ala408=) single nucleotide variant not provided [RCV001727360] Chr6:35319532 [GRCh38]
Chr6:35287309 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.940C>T (p.Gln314Ter) single nucleotide variant Immunodeficiency 87 and autoimmunity [RCV001731259] Chr6:35318196 [GRCh38]
Chr6:35285973 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_022047.4(DEF6):c.991G>A (p.Glu331Lys) single nucleotide variant Immunodeficiency 87 and autoimmunity [RCV001731257]|not provided [RCV002032711] Chr6:35318247 [GRCh38]
Chr6:35286024 [GRCh37]
Chr6:6p21.31		 pathogenic|uncertain significance
NM_022047.4(DEF6):c.1215+3G>A single nucleotide variant not provided [RCV001913147] Chr6:35318474 [GRCh38]
Chr6:35286251 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1489G>A (p.Glu497Lys) single nucleotide variant not provided [RCV001949171] Chr6:35319925 [GRCh38]
Chr6:35287702 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35277427)_(35289187_?)dup duplication not provided [RCV001982661] Chr6:35277427..35289187 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1424A>T (p.Gln475Leu) single nucleotide variant not provided [RCV001890745] Chr6:35319860 [GRCh38]
Chr6:35287637 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1268G>A (p.Arg423Gln) single nucleotide variant not provided [RCV002040163] Chr6:35319576 [GRCh38]
Chr6:35287353 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1259A>G (p.Glu420Gly) single nucleotide variant not provided [RCV001965941] Chr6:35319567 [GRCh38]
Chr6:35287344 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1274G>A (p.Arg425Gln) single nucleotide variant not provided [RCV001966789] Chr6:35319582 [GRCh38]
Chr6:35287359 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1694G>A (p.Ser565Asn) single nucleotide variant not provided [RCV001965076]|not specified [RCV004612024] Chr6:35321208 [GRCh38]
Chr6:35288985 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1255G>A (p.Glu419Lys) single nucleotide variant not provided [RCV002021592] Chr6:35319563 [GRCh38]
Chr6:35287340 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1157G>T (p.Arg386Leu) single nucleotide variant not provided [RCV001863324] Chr6:35318413 [GRCh38]
Chr6:35286190 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.569C>T (p.Ser190Leu) single nucleotide variant not provided [RCV001967841]|not specified [RCV004043142] Chr6:35312447 [GRCh38]
Chr6:35280224 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1274G>T (p.Arg425Leu) single nucleotide variant not provided [RCV001908845] Chr6:35319582 [GRCh38]
Chr6:35287359 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1682C>T (p.Pro561Leu) single nucleotide variant not provided [RCV001945823] Chr6:35321196 [GRCh38]
Chr6:35288973 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1137GGA[5] (p.Glu383dup) microsatellite not provided [RCV001969370] Chr6:35318391..35318392 [GRCh38]
Chr6:35286168..35286169 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1484A>G (p.Gln495Arg) single nucleotide variant not provided [RCV002006054] Chr6:35319920 [GRCh38]
Chr6:35287697 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1139A>T (p.Glu380Val) single nucleotide variant not provided [RCV001894133] Chr6:35318395 [GRCh38]
Chr6:35286172 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.622G>A (p.Glu208Lys) single nucleotide variant not provided [RCV001969671]|not specified [RCV004612056] Chr6:35312500 [GRCh38]
Chr6:35280277 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.13A>G (p.Lys5Glu) single nucleotide variant not provided [RCV002003600] Chr6:35297869 [GRCh38]
Chr6:35265646 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1823A>G (p.Asn608Ser) single nucleotide variant not provided [RCV001976609] Chr6:35321337 [GRCh38]
Chr6:35289114 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1018C>T (p.Arg340Trp) single nucleotide variant not provided [RCV001901779] Chr6:35318274 [GRCh38]
Chr6:35286051 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.905A>G (p.Glu302Gly) single nucleotide variant not provided [RCV002013352] Chr6:35317988 [GRCh38]
Chr6:35285765 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1546C>T (p.Arg516Trp) single nucleotide variant not provided [RCV002036524] Chr6:35319982 [GRCh38]
Chr6:35287759 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.756G>T (p.Glu252Asp) single nucleotide variant not provided [RCV002000506] Chr6:35312721 [GRCh38]
Chr6:35280498 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1222G>A (p.Ala408Thr) single nucleotide variant not provided [RCV001939748] Chr6:35319530 [GRCh38]
Chr6:35287307 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1342G>A (p.Ala448Thr) single nucleotide variant not provided [RCV001958187] Chr6:35319650 [GRCh38]
Chr6:35287427 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1076G>A (p.Arg359Gln) single nucleotide variant not provided [RCV002001363] Chr6:35318332 [GRCh38]
Chr6:35286109 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1673A>G (p.Asp558Gly) single nucleotide variant not provided [RCV001954298] Chr6:35321187 [GRCh38]
Chr6:35288964 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.570G>A (p.Ser190=) single nucleotide variant not provided [RCV001934874] Chr6:35312448 [GRCh38]
Chr6:35280225 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_022047.4(DEF6):c.1745T>A (p.Leu582Gln) single nucleotide variant not provided [RCV001992672]|not specified [RCV004043739] Chr6:35321259 [GRCh38]
Chr6:35289036 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_35277427)_(35289187_?)del deletion not provided [RCV001989984] Chr6:35277427..35289187 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1046G>T (p.Arg349Leu) single nucleotide variant not provided [RCV001920883]|not specified [RCV004043462] Chr6:35318302 [GRCh38]
Chr6:35286079 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.552C>A (p.Phe184Leu) single nucleotide variant not provided [RCV001932937] Chr6:35312430 [GRCh38]
Chr6:35280207 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.845G>A (p.Cys282Tyr) single nucleotide variant not provided [RCV001879321] Chr6:35317928 [GRCh38]
Chr6:35285705 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.311G>C (p.Arg104Pro) single nucleotide variant not provided [RCV002011152]|not specified [RCV004046062] Chr6:35310532 [GRCh38]
Chr6:35278309 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1170C>T (p.Arg390=) single nucleotide variant not provided [RCV001884353] Chr6:35318426 [GRCh38]
Chr6:35286203 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_022047.4(DEF6):c.1096C>A (p.Leu366Met) single nucleotide variant not provided [RCV001877387] Chr6:35318352 [GRCh38]
Chr6:35286129 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1833T>G (p.Asp611Glu) single nucleotide variant not provided [RCV002015266] Chr6:35321347 [GRCh38]
Chr6:35289124 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1847C>T (p.Pro616Leu) single nucleotide variant not provided [RCV002036753]|not specified [RCV004044890] Chr6:35321361 [GRCh38]
Chr6:35289138 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.724C>T (p.Pro242Ser) single nucleotide variant not provided [RCV001993772] Chr6:35312689 [GRCh38]
Chr6:35280466 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.584G>A (p.Arg195Gln) single nucleotide variant not provided [RCV001989889] Chr6:35312462 [GRCh38]
Chr6:35280239 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.423+3G>A single nucleotide variant not provided [RCV001901993] Chr6:35310647 [GRCh38]
Chr6:35278424 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1423C>G (p.Gln475Glu) single nucleotide variant not provided [RCV001921523] Chr6:35319859 [GRCh38]
Chr6:35287636 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.995AGCGGGAGC[1] (p.332QRE[1]) microsatellite not provided [RCV001952110] Chr6:35318247..35318255 [GRCh38]
Chr6:35286024..35286032 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.596G>A (p.Arg199Gln) single nucleotide variant not provided [RCV002016793] Chr6:35312474 [GRCh38]
Chr6:35280251 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.589G>A (p.Val197Met) single nucleotide variant not provided [RCV001930828]|not specified [RCV004043599] Chr6:35312467 [GRCh38]
Chr6:35280244 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.583C>T (p.Arg195Trp) single nucleotide variant not provided [RCV001977273] Chr6:35312461 [GRCh38]
Chr6:35280238 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.506_514del (p.Glu169_Gln171del) deletion not provided [RCV002028600] Chr6:35312376..35312384 [GRCh38]
Chr6:35280153..35280161 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1732C>T (p.Arg578Cys) single nucleotide variant not provided [RCV001979558] Chr6:35321246 [GRCh38]
Chr6:35289023 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1784C>G (p.Thr595Ser) single nucleotide variant not provided [RCV001867730]|not specified [RCV004040452] Chr6:35321298 [GRCh38]
Chr6:35289075 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1850C>T (p.Ala617Val) single nucleotide variant Immunodeficiency 87 and autoimmunity [RCV003147699]|not provided [RCV001906583] Chr6:35321364 [GRCh38]
Chr6:35289141 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1137GGA[3] (p.Glu383del) microsatellite not provided [RCV001960355] Chr6:35318392..35318394 [GRCh38]
Chr6:35286169..35286171 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.423+6G>A single nucleotide variant not provided [RCV001960784] Chr6:35310650 [GRCh38]
Chr6:35278427 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1601G>A (p.Arg534His) single nucleotide variant not provided [RCV002036418] Chr6:35320903 [GRCh38]
Chr6:35288680 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1090_1107dup (p.Leu364_Glu369dup) duplication not provided [RCV001901704] Chr6:35318335..35318336 [GRCh38]
Chr6:35286112..35286113 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1329A>T (p.Gln443His) single nucleotide variant not provided [RCV001917011] Chr6:35319637 [GRCh38]
Chr6:35287414 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1015C>T (p.Arg339Cys) single nucleotide variant not provided [RCV002013530] Chr6:35318271 [GRCh38]
Chr6:35286048 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.11G>A (p.Arg4His) single nucleotide variant not provided [RCV001972056]|not specified [RCV004041999] Chr6:35297867 [GRCh38]
Chr6:35265644 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1094_1126dup (p.Glu375_Arg376insGlnLeuLeuGlnGluAlaGlnArgGlnAlaGlu) duplication not provided [RCV001989290] Chr6:35318349..35318350 [GRCh38]
Chr6:35286126..35286127 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1383-11_1383-8del deletion not provided [RCV001954314] Chr6:35319805..35319808 [GRCh38]
Chr6:35287582..35287585 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1645C>T (p.Arg549Trp) single nucleotide variant not provided [RCV002031190] Chr6:35320947 [GRCh38]
Chr6:35288724 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1299G>C (p.Glu433Asp) single nucleotide variant not provided [RCV001904618] Chr6:35319607 [GRCh38]
Chr6:35287384 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.561C>T (p.Leu187=) single nucleotide variant not provided [RCV002146392] Chr6:35312439 [GRCh38]
Chr6:35280216 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.990C>T (p.Arg330=) single nucleotide variant not provided [RCV002124949] Chr6:35318246 [GRCh38]
Chr6:35286023 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.246G>A (p.Glu82=) single nucleotide variant not provided [RCV002206244] Chr6:35310467 [GRCh38]
Chr6:35278244 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.324C>T (p.Asn108=) single nucleotide variant not provided [RCV002091920] Chr6:35310545 [GRCh38]
Chr6:35278322 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1582-11T>C single nucleotide variant not provided [RCV002091838] Chr6:35320873 [GRCh38]
Chr6:35288650 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1413G>A (p.Lys471=) single nucleotide variant not provided [RCV002111711] Chr6:35319849 [GRCh38]
Chr6:35287626 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.891G>A (p.Thr297=) single nucleotide variant not provided [RCV002190813] Chr6:35317974 [GRCh38]
Chr6:35285751 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.604C>G (p.Leu202Val) single nucleotide variant DEF6-related disorder [RCV003395405]|not provided [RCV002109073]|not specified [RCV004046498] Chr6:35312482 [GRCh38]
Chr6:35280259 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_022047.4(DEF6):c.1215+15C>G single nucleotide variant not provided [RCV002090877] Chr6:35318486 [GRCh38]
Chr6:35286263 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.661-8G>A single nucleotide variant not provided [RCV002166079] Chr6:35312618 [GRCh38]
Chr6:35280395 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.807+16G>C single nucleotide variant not provided [RCV002209155] Chr6:35312788 [GRCh38]
Chr6:35280565 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.51G>A (p.Ala17=) single nucleotide variant not provided [RCV002169340] Chr6:35297907 [GRCh38]
Chr6:35265684 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1437G>A (p.Glu479=) single nucleotide variant not provided [RCV002124453] Chr6:35319873 [GRCh38]
Chr6:35287650 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.97-16C>G single nucleotide variant not provided [RCV002133803] Chr6:35309654 [GRCh38]
Chr6:35277431 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.588C>A (p.Gly196=) single nucleotide variant not provided [RCV002135099] Chr6:35312466 [GRCh38]
Chr6:35280243 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1122C>G (p.Ala374=) single nucleotide variant not provided [RCV002097491] Chr6:35318378 [GRCh38]
Chr6:35286155 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.45T>C (p.Phe15=) single nucleotide variant not provided [RCV002174942] Chr6:35297901 [GRCh38]
Chr6:35265678 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.782C>T (p.Pro261Leu) single nucleotide variant not provided [RCV002174248] Chr6:35312747 [GRCh38]
Chr6:35280524 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.237+13T>C single nucleotide variant not provided [RCV002194445] Chr6:35309823 [GRCh38]
Chr6:35277600 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1853C>T (p.Ser618Phe) single nucleotide variant not provided [RCV002191470] Chr6:35321367 [GRCh38]
Chr6:35289144 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.90G>A (p.Gln30=) single nucleotide variant not provided [RCV002153527] Chr6:35297946 [GRCh38]
Chr6:35265723 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1582-12C>T single nucleotide variant not provided [RCV002211885] Chr6:35320872 [GRCh38]
Chr6:35288649 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.237+7C>T single nucleotide variant not provided [RCV002112399] Chr6:35309817 [GRCh38]
Chr6:35277594 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1581+16G>A single nucleotide variant not provided [RCV002090654] Chr6:35320033 [GRCh38]
Chr6:35287810 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1788C>G (p.Pro596=) single nucleotide variant not provided [RCV002167258] Chr6:35321302 [GRCh38]
Chr6:35289079 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.97-7A>G single nucleotide variant not provided [RCV002205266] Chr6:35309663 [GRCh38]
Chr6:35277440 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.237+15G>A single nucleotide variant not provided [RCV002147853] Chr6:35309825 [GRCh38]
Chr6:35277602 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+14G>A single nucleotide variant not provided [RCV002114651] Chr6:35297966 [GRCh38]
Chr6:35265743 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1092G>A (p.Leu364=) single nucleotide variant not provided [RCV002095923] Chr6:35318348 [GRCh38]
Chr6:35286125 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+13C>T single nucleotide variant not provided [RCV002133860] Chr6:35297965 [GRCh38]
Chr6:35265742 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1216-8dup duplication not provided [RCV002130953] Chr6:35319510..35319511 [GRCh38]
Chr6:35287287..35287288 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.1284C>T (p.Ile428=) single nucleotide variant not provided [RCV002111559] Chr6:35319592 [GRCh38]
Chr6:35287369 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1581+8C>A single nucleotide variant not provided [RCV002165451] Chr6:35320025 [GRCh38]
Chr6:35287802 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+8G>A single nucleotide variant not provided [RCV002090481] Chr6:35297960 [GRCh38]
Chr6:35265737 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.540C>T (p.Ser180=) single nucleotide variant not provided [RCV002185733] Chr6:35312418 [GRCh38]
Chr6:35280195 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1216-9C>G single nucleotide variant not provided [RCV002220159] Chr6:35319515 [GRCh38]
Chr6:35287292 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.423+19C>T single nucleotide variant not provided [RCV002099870] Chr6:35310663 [GRCh38]
Chr6:35278440 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1773G>A (p.Gln591=) single nucleotide variant not provided [RCV002119790] Chr6:35321287 [GRCh38]
Chr6:35289064 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1167C>T (p.His389=) single nucleotide variant not provided [RCV002202041] Chr6:35318423 [GRCh38]
Chr6:35286200 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+16G>A single nucleotide variant not provided [RCV002100918] Chr6:35297968 [GRCh38]
Chr6:35265745 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1673-9C>G single nucleotide variant not provided [RCV002099118] Chr6:35321178 [GRCh38]
Chr6:35288955 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.135C>T (p.Pro45=) single nucleotide variant not provided [RCV002203767] Chr6:35309708 [GRCh38]
Chr6:35277485 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.894C>T (p.Arg298=) single nucleotide variant not provided [RCV002100244] Chr6:35317977 [GRCh38]
Chr6:35285754 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.801C>T (p.Cys267=) single nucleotide variant not provided [RCV002179609] Chr6:35312766 [GRCh38]
Chr6:35280543 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.747G>A (p.Gly249=) single nucleotide variant not provided [RCV002120130] Chr6:35312712 [GRCh38]
Chr6:35280489 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1548G>A (p.Arg516=) single nucleotide variant not provided [RCV002163860] Chr6:35319984 [GRCh38]
Chr6:35287761 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.936G>A (p.Arg312=) single nucleotide variant not provided [RCV002100892] Chr6:35318192 [GRCh38]
Chr6:35285969 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.661-18C>T single nucleotide variant not provided [RCV002142580] Chr6:35312608 [GRCh38]
Chr6:35280385 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.573C>G (p.Gly191=) single nucleotide variant not provided [RCV002098686] Chr6:35312451 [GRCh38]
Chr6:35280228 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1383-6C>T single nucleotide variant not provided [RCV002118373] Chr6:35319813 [GRCh38]
Chr6:35287590 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.621C>T (p.His207=) single nucleotide variant not provided [RCV002101168] Chr6:35312499 [GRCh38]
Chr6:35280276 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+14G>C single nucleotide variant not provided [RCV002143581] Chr6:35297966 [GRCh38]
Chr6:35265743 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.597G>C (p.Arg199=) single nucleotide variant not provided [RCV002160518] Chr6:35312475 [GRCh38]
Chr6:35280252 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.588C>T (p.Gly196=) single nucleotide variant not provided [RCV002099626] Chr6:35312466 [GRCh38]
Chr6:35280243 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.424-4C>T single nucleotide variant not provided [RCV002099939] Chr6:35312298 [GRCh38]
Chr6:35280075 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.316G>C (p.Asp106His) single nucleotide variant not provided [RCV002081463]|not specified [RCV004046425] Chr6:35310537 [GRCh38]
Chr6:35278314 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_022047.4(DEF6):c.822C>T (p.Arg274=) single nucleotide variant not provided [RCV002201821] Chr6:35317905 [GRCh38]
Chr6:35285682 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.636G>A (p.Glu212=) single nucleotide variant not provided [RCV002203389] Chr6:35312514 [GRCh38]
Chr6:35280291 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1582-14C>A single nucleotide variant not provided [RCV002203393] Chr6:35320870 [GRCh38]
Chr6:35288647 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.177T>C (p.Asp59=) single nucleotide variant not provided [RCV002217301] Chr6:35309750 [GRCh38]
Chr6:35277527 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.180C>T (p.Asp60=) single nucleotide variant not provided [RCV002138012] Chr6:35309753 [GRCh38]
Chr6:35277530 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.807+15G>A single nucleotide variant not provided [RCV002122014] Chr6:35312787 [GRCh38]
Chr6:35280564 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.288G>A (p.Thr96=) single nucleotide variant not provided [RCV002181803] Chr6:35310509 [GRCh38]
Chr6:35278286 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.846T>C (p.Cys282=) single nucleotide variant not provided [RCV002178813] Chr6:35317929 [GRCh38]
Chr6:35285706 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1682C>G (p.Pro561Arg) single nucleotide variant not provided [RCV003110252] Chr6:35321196 [GRCh38]
Chr6:35288973 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.310C>T (p.Arg104Trp) single nucleotide variant not provided [RCV003112489]|not specified [RCV004614400] Chr6:35310531 [GRCh38]
Chr6:35278308 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2		 uncertain significance
NM_022047.4(DEF6):c.529G>A (p.Gly177Arg) single nucleotide variant Immunodeficiency 87 and autoimmunity [RCV003147914] Chr6:35312407 [GRCh38]
Chr6:35280184 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.476_485del (p.Leu159fs) deletion Immunodeficiency 87 and autoimmunity [RCV004723676] Chr6:35312346..35312355 [GRCh38]
Chr6:35280123..35280132 [GRCh37]
Chr6:6p21.31		 likely pathogenic
NM_022047.4(DEF6):c.736T>C (p.Cys246Arg) single nucleotide variant not provided [RCV002299050] Chr6:35312701 [GRCh38]
Chr6:35280478 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.527C>G (p.Thr176Ser) single nucleotide variant not provided [RCV002299325] Chr6:35312405 [GRCh38]
Chr6:35280182 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.257T>A (p.Val86Asp) single nucleotide variant not provided [RCV002302953] Chr6:35310478 [GRCh38]
Chr6:35278255 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1216-18C>T single nucleotide variant not provided [RCV003014887] Chr6:35319506 [GRCh38]
Chr6:35287283 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.530G>T (p.Gly177Val) single nucleotide variant not provided [RCV003033036] Chr6:35312408 [GRCh38]
Chr6:35280185 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1766G>T (p.Gly589Val) single nucleotide variant not provided [RCV002816379] Chr6:35321280 [GRCh38]
Chr6:35289057 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1242G>A (p.Met414Ile) single nucleotide variant not provided [RCV003011958] Chr6:35319550 [GRCh38]
Chr6:35287327 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1683G>A (p.Pro561=) single nucleotide variant not provided [RCV003095435] Chr6:35321197 [GRCh38]
Chr6:35288974 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1474G>C (p.Glu492Gln) single nucleotide variant not provided [RCV002771583] Chr6:35319910 [GRCh38]
Chr6:35287687 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.423+7G>T single nucleotide variant not provided [RCV002795131] Chr6:35310651 [GRCh38]
Chr6:35278428 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_022047.4(DEF6):c.1216-13C>G single nucleotide variant not provided [RCV003034876] Chr6:35319511 [GRCh38]
Chr6:35287288 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+19C>A single nucleotide variant not provided [RCV003013608] Chr6:35297971 [GRCh38]
Chr6:35265748 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.97-11_97-7del microsatellite not provided [RCV002618102] Chr6:35309653..35309657 [GRCh38]
Chr6:35277430..35277434 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.756G>A (p.Glu252=) single nucleotide variant not provided [RCV002681406] Chr6:35312721 [GRCh38]
Chr6:35280498 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.256G>C (p.Val86Leu) single nucleotide variant not specified [RCV004171429] Chr6:35310477 [GRCh38]
Chr6:35278254 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1508G>T (p.Arg503Leu) single nucleotide variant not provided [RCV002614746] Chr6:35319944 [GRCh38]
Chr6:35287721 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1672+17T>G single nucleotide variant not provided [RCV002967668] Chr6:35320991 [GRCh38]
Chr6:35288768 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.859_860delinsGC (p.Asn287Ala) indel not provided [RCV002991713] Chr6:35317942..35317943 [GRCh38]
Chr6:35285719..35285720 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.97-18C>T single nucleotide variant not provided [RCV002618296] Chr6:35309652 [GRCh38]
Chr6:35277429 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.995AGCGGGAGC[3] (p.Glu337_Arg338insGlnArgGlu) microsatellite not provided [RCV002593176] Chr6:35318246..35318247 [GRCh38]
Chr6:35286023..35286024 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1380C>T (p.Thr460=) single nucleotide variant not provided [RCV003035755] Chr6:35319688 [GRCh38]
Chr6:35287465 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.663C>T (p.Gly221=) single nucleotide variant not provided [RCV003020352] Chr6:35312628 [GRCh38]
Chr6:35280405 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1562G>A (p.Arg521Lys) single nucleotide variant not provided [RCV003079953]|not specified [RCV004073158] Chr6:35319998 [GRCh38]
Chr6:35287775 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.852G>A (p.Lys284=) single nucleotide variant not provided [RCV002889756] Chr6:35317935 [GRCh38]
Chr6:35285712 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1085A>T (p.Gln362Leu) single nucleotide variant not provided [RCV002662826]|not specified [RCV004066696] Chr6:35318341 [GRCh38]
Chr6:35286118 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.774C>T (p.Gly258=) single nucleotide variant not provided [RCV003036417] Chr6:35312739 [GRCh38]
Chr6:35280516 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1697C>T (p.Ser566Phe) single nucleotide variant not specified [RCV004178463] Chr6:35321211 [GRCh38]
Chr6:35288988 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.136C>T (p.His46Tyr) single nucleotide variant not provided [RCV002636416] Chr6:35309709 [GRCh38]
Chr6:35277486 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1300A>G (p.Met434Val) single nucleotide variant not provided [RCV003037964] Chr6:35319608 [GRCh38]
Chr6:35287385 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.50C>T (p.Ala17Val) single nucleotide variant not provided [RCV002949026] Chr6:35297906 [GRCh38]
Chr6:35265683 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.238-17T>G single nucleotide variant not provided [RCV003055067] Chr6:35310442 [GRCh38]
Chr6:35278219 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.531G>A (p.Gly177=) single nucleotide variant not provided [RCV002570216] Chr6:35312409 [GRCh38]
Chr6:35280186 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.615C>T (p.Ala205=) single nucleotide variant not provided [RCV003053691] Chr6:35312493 [GRCh38]
Chr6:35280270 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.294G>A (p.Thr98=) single nucleotide variant not provided [RCV002927080] Chr6:35310515 [GRCh38]
Chr6:35278292 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.198G>A (p.Gln66=) single nucleotide variant not provided [RCV002659120] Chr6:35309771 [GRCh38]
Chr6:35277548 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1570G>A (p.Glu524Lys) single nucleotide variant not provided [RCV002622316] Chr6:35320006 [GRCh38]
Chr6:35287783 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1869T>C (p.Asp623=) single nucleotide variant not provided [RCV002619559] Chr6:35321383 [GRCh38]
Chr6:35289160 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.171TGA[2] (p.Asp60del) microsatellite not provided [RCV002797151] Chr6:35309742..35309744 [GRCh38]
Chr6:35277519..35277521 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.268T>G (p.Phe90Val) single nucleotide variant not specified [RCV004164584] Chr6:35310489 [GRCh38]
Chr6:35278266 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.825C>A (p.Asp275Glu) single nucleotide variant not specified [RCV004117421] Chr6:35317908 [GRCh38]
Chr6:35285685 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1122C>T (p.Ala374=) single nucleotide variant not provided [RCV002791435] Chr6:35318378 [GRCh38]
Chr6:35286155 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1581+11G>T single nucleotide variant not provided [RCV002667122] Chr6:35320028 [GRCh38]
Chr6:35287805 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.661-11C>T single nucleotide variant not provided [RCV002645702] Chr6:35312615 [GRCh38]
Chr6:35280392 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+17A>T single nucleotide variant not provided [RCV002745400] Chr6:35297969 [GRCh38]
Chr6:35265746 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1602C>A (p.Arg534=) single nucleotide variant not provided [RCV002853242] Chr6:35320904 [GRCh38]
Chr6:35288681 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1819C>T (p.Leu607Phe) single nucleotide variant not provided [RCV002800617] Chr6:35321333 [GRCh38]
Chr6:35289110 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.423+14C>T single nucleotide variant not provided [RCV002666852] Chr6:35310658 [GRCh38]
Chr6:35278435 [GRCh37]
Chr6:6p21.31		 likely benign|uncertain significance
NM_022047.4(DEF6):c.1848G>A (p.Pro616=) single nucleotide variant not provided [RCV002625199] Chr6:35321362 [GRCh38]
Chr6:35289139 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1861C>T (p.Gln621Ter) single nucleotide variant not provided [RCV002572542] Chr6:35321375 [GRCh38]
Chr6:35289152 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1437G>T (p.Glu479Asp) single nucleotide variant not provided [RCV002914776] Chr6:35319873 [GRCh38]
Chr6:35287650 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1760G>A (p.Arg587His) single nucleotide variant not provided [RCV002595248] Chr6:35321274 [GRCh38]
Chr6:35289051 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.661-10C>T single nucleotide variant not provided [RCV002710836] Chr6:35312616 [GRCh38]
Chr6:35280393 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.807+11G>A single nucleotide variant not provided [RCV003023769] Chr6:35312783 [GRCh38]
Chr6:35280560 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.423+11T>A single nucleotide variant not provided [RCV002625664] Chr6:35310655 [GRCh38]
Chr6:35278432 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1017C>A (p.Arg339=) single nucleotide variant not provided [RCV002894890] Chr6:35318273 [GRCh38]
Chr6:35286050 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.593G>A (p.Gly198Asp) single nucleotide variant not provided [RCV002890917] Chr6:35312471 [GRCh38]
Chr6:35280248 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1658C>T (p.Pro553Leu) single nucleotide variant not provided [RCV002825671] Chr6:35320960 [GRCh38]
Chr6:35288737 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.49G>A (p.Ala17Thr) single nucleotide variant not provided [RCV002875703] Chr6:35297905 [GRCh38]
Chr6:35265682 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1519C>G (p.Gln507Glu) single nucleotide variant not provided [RCV002711826] Chr6:35319955 [GRCh38]
Chr6:35287732 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.618C>A (p.Ile206=) single nucleotide variant not provided [RCV002576033] Chr6:35312496 [GRCh38]
Chr6:35280273 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.534G>C (p.Gly178=) single nucleotide variant not provided [RCV002644207] Chr6:35312412 [GRCh38]
Chr6:35280189 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.661-9G>A single nucleotide variant not provided [RCV002786211] Chr6:35312617 [GRCh38]
Chr6:35280394 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.916+19G>T single nucleotide variant not provided [RCV002676494] Chr6:35318018 [GRCh38]
Chr6:35285795 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.808-13dup duplication not provided [RCV002630444] Chr6:35317877..35317878 [GRCh38]
Chr6:35285654..35285655 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.575G>A (p.Arg192His) single nucleotide variant not provided [RCV003044800] Chr6:35312453 [GRCh38]
Chr6:35280230 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.860A>G (p.Asn287Ser) single nucleotide variant not provided [RCV002770674] Chr6:35317943 [GRCh38]
Chr6:35285720 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1383-10C>T single nucleotide variant not provided [RCV002938045] Chr6:35319809 [GRCh38]
Chr6:35287586 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1266C>G (p.Ala422=) single nucleotide variant not provided [RCV002717191] Chr6:35319574 [GRCh38]
Chr6:35287351 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.843C>T (p.Phe281=) single nucleotide variant not provided [RCV002857634] Chr6:35317926 [GRCh38]
Chr6:35285703 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.10C>T (p.Arg4Cys) single nucleotide variant not provided [RCV002578698] Chr6:35297866 [GRCh38]
Chr6:35265643 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1090C>G (p.Leu364Val) single nucleotide variant not provided [RCV002629581] Chr6:35318346 [GRCh38]
Chr6:35286123 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.618C>T (p.Ile206=) single nucleotide variant not provided [RCV002835033] Chr6:35312496 [GRCh38]
Chr6:35280273 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.574C>T (p.Arg192Cys) single nucleotide variant not provided [RCV003063460] Chr6:35312452 [GRCh38]
Chr6:35280229 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1750C>T (p.Arg584Cys) single nucleotide variant not specified [RCV004167036] Chr6:35321264 [GRCh38]
Chr6:35289041 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.476T>C (p.Leu159Ser) single nucleotide variant not provided [RCV002650016] Chr6:35312354 [GRCh38]
Chr6:35280131 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1382+10A>G single nucleotide variant not provided [RCV002580445] Chr6:35319700 [GRCh38]
Chr6:35287477 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1793C>T (p.Pro598Leu) single nucleotide variant not provided [RCV002811420] Chr6:35321307 [GRCh38]
Chr6:35289084 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.503A>G (p.Gln168Arg) single nucleotide variant not provided [RCV002933748] Chr6:35312381 [GRCh38]
Chr6:35280158 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1581+13G>T single nucleotide variant not provided [RCV002856867] Chr6:35320030 [GRCh38]
Chr6:35287807 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1247T>C (p.Leu416Pro) single nucleotide variant not provided [RCV002716155] Chr6:35319555 [GRCh38]
Chr6:35287332 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1176G>A (p.Leu392=) single nucleotide variant not provided [RCV002770404] Chr6:35318432 [GRCh38]
Chr6:35286209 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.54G>A (p.Leu18=) single nucleotide variant not provided [RCV002578395] Chr6:35297910 [GRCh38]
Chr6:35265687 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.556G>C (p.Glu186Gln) single nucleotide variant not provided [RCV003028769] Chr6:35312434 [GRCh38]
Chr6:35280211 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1038G>A (p.Glu346=) single nucleotide variant not provided [RCV002806396] Chr6:35318294 [GRCh38]
Chr6:35286071 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.541G>A (p.Val181Ile) single nucleotide variant not provided [RCV002581642] Chr6:35312419 [GRCh38]
Chr6:35280196 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.660+10G>T single nucleotide variant not provided [RCV002898634] Chr6:35312548 [GRCh38]
Chr6:35280325 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.461G>A (p.Ser154Asn) single nucleotide variant not provided [RCV003092567] Chr6:35312339 [GRCh38]
Chr6:35280116 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1093_1094delinsTT (p.Glu365Leu) indel not provided [RCV002607713] Chr6:35318349..35318350 [GRCh38]
Chr6:35286126..35286127 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.695A>G (p.Asn232Ser) single nucleotide variant not provided [RCV002721869] Chr6:35312660 [GRCh38]
Chr6:35280437 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1828G>A (p.Gly610Arg) single nucleotide variant not provided [RCV002612996] Chr6:35321342 [GRCh38]
Chr6:35289119 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.661-17G>A single nucleotide variant not provided [RCV002653613] Chr6:35312609 [GRCh38]
Chr6:35280386 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1697C>A (p.Ser566Tyr) single nucleotide variant not provided [RCV002610665] Chr6:35321211 [GRCh38]
Chr6:35288988 [GRCh37]
Chr6:6p21.31		 uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup duplication not provided [RCV003154914] Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2		 uncertain significance
NM_022047.4(DEF6):c.1081C>G (p.Leu361Val) single nucleotide variant not specified [RCV004354832] Chr6:35318337 [GRCh38]
Chr6:35286114 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1383A>T (p.Arg461Ser) single nucleotide variant not specified [RCV004359053] Chr6:35319819 [GRCh38]
Chr6:35287596 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1582G>A (p.Ala528Thr) single nucleotide variant not specified [RCV004356416] Chr6:35320884 [GRCh38]
Chr6:35288661 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.637C>A (p.Leu213Ile) single nucleotide variant not specified [RCV004335120] Chr6:35312515 [GRCh38]
Chr6:35280292 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.860_861delinsCG (p.Asn287Thr) indel not provided [RCV003875287] Chr6:35317943..35317944 [GRCh38]
Chr6:35285720..35285721 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.120G>A (p.Thr40=) single nucleotide variant not provided [RCV003873677] Chr6:35309693 [GRCh38]
Chr6:35277470 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.660+10G>C single nucleotide variant not provided [RCV003544443] Chr6:35312548 [GRCh38]
Chr6:35280325 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.277C>T (p.Leu93=) single nucleotide variant not provided [RCV003713507] Chr6:35310498 [GRCh38]
Chr6:35278275 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1776C>A (p.Gly592=) single nucleotide variant not provided [RCV003694717] Chr6:35321290 [GRCh38]
Chr6:35289067 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1254G>A (p.Glu418=) single nucleotide variant not provided [RCV003688791] Chr6:35319562 [GRCh38]
Chr6:35287339 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1582-19A>G single nucleotide variant not provided [RCV003716287] Chr6:35320865 [GRCh38]
Chr6:35288642 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1762T>A (p.Trp588Arg) single nucleotide variant not provided [RCV003578432] Chr6:35321276 [GRCh38]
Chr6:35289053 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1581+9T>C single nucleotide variant not provided [RCV003695564] Chr6:35320026 [GRCh38]
Chr6:35287803 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.86C>G (p.Ser29Cys) single nucleotide variant not provided [RCV003545316] Chr6:35297942 [GRCh38]
Chr6:35265719 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1210G>C (p.Glu404Gln) single nucleotide variant not provided [RCV003578251] Chr6:35318466 [GRCh38]
Chr6:35286243 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.102G>A (p.Leu34=) single nucleotide variant not provided [RCV003696100] Chr6:35309675 [GRCh38]
Chr6:35277452 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.808-125G>C single nucleotide variant not specified [RCV003489239] Chr6:35317766 [GRCh38]
Chr6:35285543 [GRCh37]
Chr6:6p21.31		 benign
NM_022047.4(DEF6):c.237+14T>C single nucleotide variant not provided [RCV003547078] Chr6:35309824 [GRCh38]
Chr6:35277601 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1377G>A (p.Gln459=) single nucleotide variant not provided [RCV003689694] Chr6:35319685 [GRCh38]
Chr6:35287462 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.808-16A>G single nucleotide variant not provided [RCV003716672] Chr6:35317875 [GRCh38]
Chr6:35285652 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.864C>T (p.Arg288=) single nucleotide variant not provided [RCV003661846] Chr6:35317947 [GRCh38]
Chr6:35285724 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1171G>T (p.Glu391Ter) single nucleotide variant not provided [RCV003662592] Chr6:35318427 [GRCh38]
Chr6:35286204 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_022047.4(DEF6):c.762A>G (p.Lys254=) single nucleotide variant not provided [RCV003852518] Chr6:35312727 [GRCh38]
Chr6:35280504 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1718dup (p.Leu574fs) duplication not provided [RCV003550298] Chr6:35321227..35321228 [GRCh38]
Chr6:35289004..35289005 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1216-20A>G single nucleotide variant not provided [RCV003810749] Chr6:35319504 [GRCh38]
Chr6:35287281 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.213C>T (p.Tyr71=) single nucleotide variant not provided [RCV003673034] Chr6:35309786 [GRCh38]
Chr6:35277563 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.39C>T (p.Tyr13=) single nucleotide variant not provided [RCV003855564] Chr6:35297895 [GRCh38]
Chr6:35265672 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1554C>T (p.Asn518=) single nucleotide variant not provided [RCV003838990] Chr6:35319990 [GRCh38]
Chr6:35287767 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.57C>T (p.Asp19=) single nucleotide variant not provided [RCV003561392] Chr6:35297913 [GRCh38]
Chr6:35265690 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1020G>A (p.Arg340=) single nucleotide variant not provided [RCV003837236] Chr6:35318276 [GRCh38]
Chr6:35286053 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.96+20C>T single nucleotide variant not provided [RCV003810905] Chr6:35297972 [GRCh38]
Chr6:35265749 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.237+18G>A single nucleotide variant not provided [RCV003580872] Chr6:35309828 [GRCh38]
Chr6:35277605 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.916+8C>G single nucleotide variant DEF6-related disorder [RCV003981151]|not provided [RCV003838614] Chr6:35318007 [GRCh38]
Chr6:35285784 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.597G>A (p.Arg199=) single nucleotide variant not provided [RCV003708869] Chr6:35312475 [GRCh38]
Chr6:35280252 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.120G>C (p.Thr40=) single nucleotide variant not provided [RCV003705797] Chr6:35309693 [GRCh38]
Chr6:35277470 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.917-13C>G single nucleotide variant not provided [RCV003859176] Chr6:35318160 [GRCh38]
Chr6:35285937 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.978G>A (p.Lys326=) single nucleotide variant not provided [RCV003683982] Chr6:35318234 [GRCh38]
Chr6:35286011 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1461G>A (p.Ala487=) single nucleotide variant not provided [RCV003683711] Chr6:35319897 [GRCh38]
Chr6:35287674 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1779C>T (p.Asn593=) single nucleotide variant not provided [RCV003869197] Chr6:35321293 [GRCh38]
Chr6:35289070 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.534G>T (p.Gly178=) single nucleotide variant not provided [RCV003685589] Chr6:35312412 [GRCh38]
Chr6:35280189 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1755G>T (p.Leu585=) single nucleotide variant not provided [RCV003737956] Chr6:35321269 [GRCh38]
Chr6:35289046 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.238-14A>G single nucleotide variant not provided [RCV003841053] Chr6:35310445 [GRCh38]
Chr6:35278222 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1134G>A (p.Leu378=) single nucleotide variant not provided [RCV003871995] Chr6:35318390 [GRCh38]
Chr6:35286167 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1296G>A (p.Glu432=) single nucleotide variant not provided [RCV003844384] Chr6:35319604 [GRCh38]
Chr6:35287381 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.534del (p.Leu179fs) deletion not provided [RCV003685587] Chr6:35312407 [GRCh38]
Chr6:35280184 [GRCh37]
Chr6:6p21.31		 pathogenic
NM_022047.4(DEF6):c.1582-20C>T single nucleotide variant not provided [RCV003707760] Chr6:35320864 [GRCh38]
Chr6:35288641 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1216-4A>C single nucleotide variant not provided [RCV003682307] Chr6:35319520 [GRCh38]
Chr6:35287297 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1672+8G>A single nucleotide variant not provided [RCV003865338] Chr6:35320982 [GRCh38]
Chr6:35288759 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.48C>T (p.Thr16=) single nucleotide variant not provided [RCV003864054] Chr6:35297904 [GRCh38]
Chr6:35265681 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.9G>A (p.Leu3=) single nucleotide variant not provided [RCV003678104] Chr6:35297865 [GRCh38]
Chr6:35265642 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1608C>A (p.Ala536=) single nucleotide variant not provided [RCV003566153] Chr6:35320910 [GRCh38]
Chr6:35288687 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1581+17G>C single nucleotide variant not provided [RCV003858346] Chr6:35320034 [GRCh38]
Chr6:35287811 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1683G>C (p.Pro561=) single nucleotide variant not provided [RCV003858957] Chr6:35321197 [GRCh38]
Chr6:35288974 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1144G>A (p.Glu382Lys) single nucleotide variant not specified [RCV004368169] Chr6:35318400 [GRCh38]
Chr6:35286177 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1762T>G (p.Trp588Gly) single nucleotide variant not specified [RCV004368171] Chr6:35321276 [GRCh38]
Chr6:35289053 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1802A>G (p.Asn601Ser) single nucleotide variant not specified [RCV004368172] Chr6:35321316 [GRCh38]
Chr6:35289093 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.1856C>T (p.Thr619Ile) single nucleotide variant not specified [RCV004368174] Chr6:35321370 [GRCh38]
Chr6:35289147 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.531G>T (p.Gly177=) single nucleotide variant DEF6-related disorder [RCV003976884] Chr6:35312409 [GRCh38]
Chr6:35280186 [GRCh37]
Chr6:6p21.31		 likely benign
NM_022047.4(DEF6):c.119C>T (p.Thr40Met) single nucleotide variant not specified [RCV004368170] Chr6:35309692 [GRCh38]
Chr6:35277469 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1837G>T (p.Ala613Ser) single nucleotide variant not specified [RCV004368173] Chr6:35321351 [GRCh38]
Chr6:35289128 [GRCh37]
Chr6:6p21.31		 uncertain significance
NM_022047.4(DEF6):c.1006C>T (p.Arg336Trp) single nucleotide variant not provided [RCV004792975] Chr6:35318262 [GRCh38]
Chr6:35286039 [GRCh37]
Chr6:6p21.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1048
Count of miRNA genes:559
Interacting mature miRNAs:620
Transcripts:ENST00000316637, ENST00000444278, ENST00000468102, ENST00000542066
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
597521753GWAS1617827_Hserum alanine aminotransferase measurement QTL GWAS1617827 (human)2e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)63531618135316182Human
597611154GWAS1668014_Hneutrophil count QTL GWAS1668014 (human)9e-13neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)63531101935311020Human
597404302GWAS1500376_Hserum alanine aminotransferase measurement QTL GWAS1500376 (human)1e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)63531618135316182Human
597123343GWAS1219417_Hbody height QTL GWAS1219417 (human)7e-11body height (VT:0001253)body height (CMO:0000106)63531114735311148Human
597190720GWAS1286794_Hanthropometric measurement QTL GWAS1286794 (human)2e-11anthropometric measurementbody morphological measurement (CMO:0000021)63531794335317944Human
597144395GWAS1240469_Haspartate aminotransferase measurement QTL GWAS1240469 (human)1e-10aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)63531292035312921Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
597580733GWAS1637593_Hlymphocyte count QTL GWAS1637593 (human)3e-15lymphocyte countblood lymphocyte count (CMO:0000031)63531101935311020Human
597171003GWAS1267077_HBMI-adjusted hip circumference QTL GWAS1267077 (human)3e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)63531319435313195Human
597081085GWAS1177159_Hlymphocyte count QTL GWAS1177159 (human)2e-23neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)63529845435298455Human
597316657GWAS1412731_HBMI-adjusted waist circumference QTL GWAS1412731 (human)6e-09body size trait (VT:0100005)63531068135310682Human
597038653GWAS1134727_Hapolipoprotein A 1 measurement QTL GWAS1134727 (human)6e-11apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)63531794335317944Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
597102715GWAS1198789_Haspartate aminotransferase measurement QTL GWAS1198789 (human)5e-17aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)63531292035312921Human
597316661GWAS1412735_HBMI-adjusted waist circumference QTL GWAS1412735 (human)6e-09body size trait (VT:0100005)63530624835306249Human
597123832GWAS1219906_Hbody height QTL GWAS1219906 (human)2e-15body height (VT:0001253)body height (CMO:0000106)63531114735311148Human
597048358GWAS1144432_Hleukocyte count QTL GWAS1144432 (human)1e-21leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)63529845435298455Human
406999922GWAS648898_HBMI-adjusted waist circumference QTL GWAS648898 (human)1e-10body size trait (VT:0100005)63531068135310682Human
597263272GWAS1359346_Hserum metabolite measurement QTL GWAS1359346 (human)0.000004serum metabolite measurement63530075635300757Human
597122914GWAS1218988_Hbody height QTL GWAS1218988 (human)0.0000003body height (VT:0001253)body height (CMO:0000106)63531114735311148Human
597193517GWAS1289591_Hsexual dimorphism measurement QTL GWAS1289591 (human)4e-08sexual dimorphism measurement63531851835318519Human
597098017GWAS1194091_Hleukocyte count QTL GWAS1194091 (human)3e-27leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)63529845435298455Human
597221666GWAS1317740_Hplatelet count QTL GWAS1317740 (human)8e-13platelet quantity (VT:0003179)platelet count (CMO:0000029)63529845435298455Human
597045037GWAS1141111_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS1141111 (human)3e-10sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)63531101935311020Human
597128937GWAS1225011_Hbody height QTL GWAS1225011 (human)5e-15body height (VT:0001253)body height (CMO:0000106)63530063335300634Human

Markers in Region
RH91902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37635,289,324 - 35,289,465UniSTSGRCh37
Build 36635,397,302 - 35,397,443RGDNCBI36
Celera636,843,282 - 36,843,423RGD
Cytogenetic Map6p21.33-p21.1UniSTS
HuRef635,010,310 - 35,010,451UniSTS
GeneMap99-GB4 RH Map6130.75UniSTS
AL035190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37635,269,181 - 35,269,343UniSTSGRCh37
Build 36635,377,159 - 35,377,321RGDNCBI36
Celera636,823,140 - 36,823,302RGD
Cytogenetic Map6p21.33-p21.1UniSTS
HuRef634,990,399 - 34,990,561UniSTS
MARC_17107-17108:1020871549:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37635,277,510 - 35,278,285UniSTSGRCh37
Build 36635,385,488 - 35,386,263RGDNCBI36
Celera636,831,463 - 36,832,238RGD
HuRef634,998,491 - 34,999,266UniSTS
MARC_2875-2876:991933604:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37635,287,739 - 35,289,041UniSTSGRCh37
Celera636,841,697 - 36,842,999UniSTS
HuRef635,008,725 - 35,010,027UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4972 1725 2349 6 623 1951 464 2270 7298 6470 53 3732 1 847 1744 1616 174 1

Sequence


Ensembl Acc Id: ENST00000316637   ⟹   ENSP00000319831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,297,818 - 35,321,771 (+)Ensembl
Ensembl Acc Id: ENST00000444278   ⟹   ENSP00000415357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,297,842 - 35,321,771 (+)Ensembl
Ensembl Acc Id: ENST00000468102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,316,104 - 35,321,751 (+)Ensembl
Ensembl Acc Id: ENST00000698929   ⟹   ENSP00000514040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,297,818 - 35,321,771 (+)Ensembl
Ensembl Acc Id: ENST00000698930   ⟹   ENSP00000514041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,297,832 - 35,321,753 (+)Ensembl
Ensembl Acc Id: ENST00000698931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl635,297,833 - 35,316,457 (+)Ensembl
RefSeq Acc Id: NM_022047   ⟹   NP_071330
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,297,818 - 35,321,771 (+)NCBI
GRCh37635,265,595 - 35,289,548 (+)ENTREZGENE
Build 36635,373,573 - 35,397,526 (+)NCBI Archive
HuRef634,986,813 - 35,010,534 (+)ENTREZGENE
CHM1_1635,267,635 - 35,291,597 (+)NCBI
T2T-CHM13v2.0635,120,899 - 35,144,853 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418838   ⟹   XP_047274794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,310,459 - 35,321,771 (+)NCBI
RefSeq Acc Id: XM_054355531   ⟹   XP_054211506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0635,133,541 - 35,144,853 (+)NCBI
RefSeq Acc Id: NP_071330   ⟸   NM_022047
- UniProtKB: Q9H4E7 (UniProtKB/Swiss-Prot),   Q86VF4 (UniProtKB/Swiss-Prot),   B2RBP7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000415357   ⟸   ENST00000444278
Ensembl Acc Id: ENSP00000319831   ⟸   ENST00000316637
RefSeq Acc Id: XP_047274794   ⟸   XM_047418838
- Peptide Label: isoform X1
- UniProtKB: H0Y7V7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000514041   ⟸   ENST00000698930
Ensembl Acc Id: ENSP00000514040   ⟸   ENST00000698929
RefSeq Acc Id: XP_054211506   ⟸   XM_054355531
- Peptide Label: isoform X1
- UniProtKB: H0Y7V7 (UniProtKB/TrEMBL)
Protein Domains
PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4E7-F1-model_v2 AlphaFold Q9H4E7 1-631 view protein structure

Promoters
RGD ID:6872962
Promoter ID:EPDNEW_H9646
Type:initiation region
Name:DEF6_1
Description:DEF6, guanine nucleotide exchange factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38635,297,818 - 35,297,878EPDNEW
RGD ID:6803982
Promoter ID:HG_KWN:53315
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394658,   NM_022047,   UC010JVS.1,   UC010JVT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36635,373,434 - 35,373,934 (+)MPROMDB
RGD ID:6803927
Promoter ID:HG_KWN:53316
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000040277
Position:
Human AssemblyChrPosition (strand)Source
Build 36635,384,906 - 35,385,957 (+)MPROMDB
RGD ID:6812938
Promoter ID:HG_ACW:68118
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:DEF6.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36635,387,161 - 35,387,661 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2760 AgrOrtholog
COSMIC DEF6 COSMIC
Ensembl Genes ENSG00000023892 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000316637 ENTREZGENE
  ENST00000316637.7 UniProtKB/Swiss-Prot
  ENST00000444278.3 UniProtKB/TrEMBL
  ENST00000698929.1 UniProtKB/TrEMBL
  ENST00000698930.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000023892 GTEx
HGNC ID HGNC:2760 ENTREZGENE
Human Proteome Map DEF6 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50619 UniProtKB/Swiss-Prot
NCBI Gene 50619 ENTREZGENE
OMIM 610094 OMIM
PANTHER DIFFERENTIALLY EXPRESSED IN FDCP 6 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SWAP-70 RECOMBINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27237 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EF-hand UniProtKB/TrEMBL
  PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot
UniProt A0A8V8TMY0_HUMAN UniProtKB/TrEMBL
  A0A8V8TNX4_HUMAN UniProtKB/TrEMBL
  B2RBP7 ENTREZGENE, UniProtKB/TrEMBL
  B3KSI1_HUMAN UniProtKB/TrEMBL
  DEFI6_HUMAN UniProtKB/Swiss-Prot
  H0Y7V7 ENTREZGENE, UniProtKB/TrEMBL
  Q86VF4 ENTREZGENE
  Q9H4E7 ENTREZGENE
UniProt Secondary Q86VF4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 DEF6  DEF6 guanine nucleotide exchange factor  DEF6  DEF6, guanine nucleotide exchange factor  Symbol and/or name change 5135510 APPROVED
2015-12-01 DEF6  DEF6, guanine nucleotide exchange factor  DEF6  DEF6 guanine nucleotide exchange factor  Symbol and/or name change 5135510 APPROVED
2015-06-23 DEF6  DEF6 guanine nucleotide exchange factor  DEF6  differentially expressed in FDCP 6 homolog (mouse)  Symbol and/or name change 5135510 APPROVED