DHFR (dihydrofolate reductase) - Rat Genome Database

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Gene: DHFR (dihydrofolate reductase) Homo sapiens
Analyze
Symbol: DHFR
Name: dihydrofolate reductase
RGD ID: 736871
HGNC Page HGNC
Description: Enables anion binding activity; dihydrofolate reductase activity; and nucleic acid binding activity. Involved in dihydrofolate metabolic process; negative regulation of translation; and pteridine-containing compound biosynthetic process. Located in mitochondrion. Implicated in acute lymphoblastic leukemia. Biomarker of acute lymphoblastic leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DHFRP1; DYR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: DHFRP1   DHFRP2   DHFRP3   DHFRP5   DHFRP6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl580,626,226 - 80,654,983 (-)EnsemblGRCh38hg38GRCh38
GRCh38580,626,226 - 80,654,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37579,922,045 - 79,950,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36579,957,801 - 79,986,556 (-)NCBINCBI36hg18NCBI36
Build 34579,957,803 - 79,986,572NCBI
Celera575,825,049 - 75,854,857 (-)NCBI
Cytogenetic Map5q14.1NCBI
HuRef575,130,997 - 75,159,721 (-)NCBIHuRef
CHM1_1579,355,281 - 79,384,046 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-epicatechin-3-O-gallate  (EXP)
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
5-formyltetrahydrofolic acid  (EXP)
6-bromoindirubin-3'-oxime  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-carotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cefazolin  (EXP)
cefepime  (EXP)
ceftazidime pentahydrate  (EXP)
ceftizoxime  (EXP)
ceftriaxone  (EXP)
chlorambucil  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (ISO)
cytarabine  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
DISTAMYCIN A  (EXP)
doxorubicin  (EXP)
emodin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (EXP)
ferulic acid  (EXP)
folic acid  (EXP,ISO)
folpet  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
gentamycin  (ISO)
indometacin  (ISO)
isoflavones  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
leflunomide  (ISO)
levofloxacin  (EXP)
Mecamylamine  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP,ISO)
methylmercury chloride  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
naringin  (EXP)
nickel atom  (EXP)
nicotine  (EXP)
nimesulide  (ISO)
nitrogen mustard  (EXP)
olmesartan  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP)
propanal  (EXP)
Rebamipide  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
syringic acid  (EXP)
tamoxifen  (EXP,ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
trabectedin  (ISO)
trimellitic anhydride  (ISO)
trimethoprim  (ISO)
trimetrexate  (EXP)
triptonide  (ISO)
tubocurarine  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vorinostat  (EXP)
zidovudine  (EXP)

References

Additional References at PubMed
PMID:1731871   PMID:1935897   PMID:2248959   PMID:2303423   PMID:2592384   PMID:2859520   PMID:3185016   PMID:3383852   PMID:6235374   PMID:6306253   PMID:6323448   PMID:6504041  
PMID:6687716   PMID:6750132   PMID:8490020   PMID:8527095   PMID:8559246   PMID:8976559   PMID:9119086   PMID:9374868   PMID:10749676   PMID:10898545   PMID:11448909   PMID:11779239  
PMID:11964483   PMID:11996001   PMID:12084458   PMID:12096917   PMID:12384595   PMID:12477932   PMID:12588981   PMID:12612070   PMID:12788094   PMID:12812497   PMID:14664697   PMID:14679136  
PMID:14735580   PMID:15039552   PMID:15489334   PMID:15755837   PMID:15817466   PMID:16116078   PMID:16124424   PMID:16196087   PMID:16467096   PMID:16611982   PMID:16735474   PMID:16969375  
PMID:17237763   PMID:17336564   PMID:17413111   PMID:17449906   PMID:17486595   PMID:17597297   PMID:17683969   PMID:17917571   PMID:18045573   PMID:18056255   PMID:18093916   PMID:18247058  
PMID:18451149   PMID:18498051   PMID:18636124   PMID:18676680   PMID:18682947   PMID:18785313   PMID:18799873   PMID:18818748   PMID:18988749   PMID:19019335   PMID:19022952   PMID:19048631  
PMID:19055622   PMID:19064572   PMID:19064578   PMID:19161160   PMID:19170196   PMID:19196009   PMID:19336370   PMID:19353223   PMID:19360472   PMID:19461557   PMID:19493349   PMID:19527514  
PMID:19533788   PMID:19536847   PMID:19578876   PMID:19625176   PMID:19666584   PMID:19683694   PMID:19692168   PMID:19706381   PMID:19727391   PMID:19776634   PMID:19898482   PMID:19913121  
PMID:20031554   PMID:20237949   PMID:20347265   PMID:20472929   PMID:20544798   PMID:20615890   PMID:20628086   PMID:20634891   PMID:20670920   PMID:20737570   PMID:20834190   PMID:20948192  
PMID:21120433   PMID:21310276   PMID:21873635   PMID:21876184   PMID:21890473   PMID:21906983   PMID:21963094   PMID:22005284   PMID:22024482   PMID:22324981   PMID:22505724   PMID:22954684  
PMID:22994778   PMID:23000965   PMID:23053953   PMID:23197646   PMID:23421317   PMID:23707606   PMID:23726796   PMID:23733948   PMID:23838799   PMID:23903781   PMID:24053334   PMID:24077226  
PMID:24104479   PMID:24361572   PMID:24498949   PMID:24583629   PMID:24810856   PMID:25084201   PMID:25297839   PMID:25369552   PMID:25416956   PMID:25511211   PMID:25609649   PMID:25778468  
PMID:26221921   PMID:26242737   PMID:26269242   PMID:26349210   PMID:26354538   PMID:26381869   PMID:26506238   PMID:26676887   PMID:26760575   PMID:26813442   PMID:26875486   PMID:27187663  
PMID:27453043   PMID:27627584   PMID:27636122   PMID:28065597   PMID:28188287   PMID:28319113   PMID:28380382   PMID:28533407   PMID:28700943   PMID:28719513   PMID:28887233   PMID:28943344  
PMID:29117863   PMID:29180619   PMID:29568061   PMID:29708443   PMID:30120883   PMID:30194290   PMID:30463901   PMID:30561431   PMID:30583708   PMID:30642883   PMID:30684021   PMID:30758239  
PMID:30961929   PMID:31478661   PMID:31723608   PMID:31786878   PMID:32391884   PMID:32445071   PMID:32814769   PMID:32877691   PMID:33226137   PMID:33545223  


Genomics

Comparative Map Data
DHFR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl580,626,226 - 80,654,983 (-)EnsemblGRCh38hg38GRCh38
GRCh38580,626,226 - 80,654,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37579,922,045 - 79,950,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36579,957,801 - 79,986,556 (-)NCBINCBI36hg18NCBI36
Build 34579,957,803 - 79,986,572NCBI
Celera575,825,049 - 75,854,857 (-)NCBI
Cytogenetic Map5q14.1NCBI
HuRef575,130,997 - 75,159,721 (-)NCBIHuRef
CHM1_1579,355,281 - 79,384,046 (-)NCBICHM1_1
Dhfr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391392,491,291 - 92,525,561 (+)NCBIGRCm39mm39
GRCm39 Ensembl1392,491,234 - 92,525,561 (+)Ensembl
GRCm381392,354,783 - 92,389,053 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1392,354,726 - 92,389,053 (+)EnsemblGRCm38mm10GRCm38
MGSCv371393,124,738 - 93,159,008 (+)NCBIGRCm37mm9NCBIm37
MGSCv361393,455,536 - 93,489,806 (+)NCBImm8
Celera1395,961,012 - 95,994,907 (+)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1347.64NCBI
Dhfr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2223,585,876 - 23,611,199 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl223,586,031 - 23,613,713 (+)Ensembl
Rnor_6.0221,931,887 - 21,958,927 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl221,931,493 - 21,962,453 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0241,137,784 - 41,149,417 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0241,162,308 - 41,162,496 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4222,607,093 - 22,828,487 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1222,527,461 - 22,748,856 (+)NCBI
Celera219,675,965 - 19,700,103 (+)NCBICelera
Cytogenetic Map2q12NCBI
Dhfr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541829,274,170 - 29,283,028 (+)NCBIChiLan1.0ChiLan1.0
DHFR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1534,938,548 - 34,967,003 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl534,938,548 - 34,967,003 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0534,663,210 - 34,689,467 (+)NCBIMhudiblu_PPA_v0panPan3
Dhfr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213182,542,580 - 182,561,929 (+)NCBI
SpeTri2.0NW_00493646967,962 - 83,116 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHFR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1289,230,660 - 89,255,830 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2291,077,865 - 91,102,076 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DHFR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1474,787,292 - 74,811,196 (-)NCBI
ChlSab1.1 Ensembl474,787,629 - 74,810,960 (-)Ensembl
Vero_WHO_p1.0NW_02366604923,650,277 - 23,674,290 (-)NCBI
Dhfr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247431,446,643 - 1,462,319 (-)NCBI

Position Markers
RH70434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,924,672 - 79,924,798UniSTSGRCh37
GRCh371823,750,453 - 23,750,579UniSTSGRCh37
Build 36579,960,428 - 79,960,554RGDNCBI36
Celera575,827,675 - 75,827,801RGD
Celera595,322,852 - 95,322,978UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,133,623 - 75,133,749UniSTS
PMC137126P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371823,750,687 - 23,751,250UniSTSGRCh37
Build 361822,004,685 - 22,005,248RGDNCBI36
Celera595,322,181 - 95,322,744RGD
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map18q11.2UniSTS
PMC149466P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,950,537 - 79,950,686UniSTSGRCh37
Build 36579,986,293 - 79,986,442RGDNCBI36
Celera575,854,621 - 75,854,770RGD
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5q11-q12UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,159,440 - 75,159,589UniSTS
PMC149466P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,945,149 - 79,945,310UniSTSGRCh37
Build 36579,980,905 - 79,981,066RGDNCBI36
Celera575,848,140 - 75,848,301RGD
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,154,092 - 75,154,253UniSTS
PMC149466P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,933,750 - 79,933,917UniSTSGRCh37
Build 36579,969,506 - 79,969,673RGDNCBI36
Celera575,836,738 - 75,836,905RGD
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,142,693 - 75,142,860UniSTS
PMC149466P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37656,141,355 - 56,141,518UniSTSGRCh37
GRCh371823,750,718 - 23,750,880UniSTSGRCh37
Build 36656,249,314 - 56,249,477RGDNCBI36
Celera595,322,551 - 95,322,713RGD
Celera657,803,555 - 57,803,718UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef655,976,633 - 55,976,796UniSTS
PMC303366P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371823,750,892 - 23,751,020UniSTSGRCh37
Build 361822,004,890 - 22,005,018RGDNCBI36
Celera595,322,411 - 95,322,539RGD
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map18q11.2UniSTS
PMC85091P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371823,750,748 - 23,751,250UniSTSGRCh37
Build 361822,004,746 - 22,005,248RGDNCBI36
Celera595,322,181 - 95,322,683RGD
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map18q11.2UniSTS
PMC89807P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371823,750,685 - 23,751,251UniSTSGRCh37
Build 361822,004,683 - 22,005,249RGDNCBI36
Celera595,322,180 - 95,322,746RGD
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map18q11.2UniSTS
WI-18379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,950,294 - 79,950,410UniSTSGRCh37
Build 36579,986,050 - 79,986,166RGDNCBI36
Celera575,854,379 - 75,854,494RGD
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5q11-q12UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,159,197 - 75,159,313UniSTS
GeneMap99-GB4 RH Map5383.3UniSTS
Whitehead-RH Map5289.3UniSTS
STS-AA010576  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
GeneMap99-GB4 RH Map5380.23UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
RH68956  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map3q11.1UniSTS
PMC316374P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT1,478 - 2,187UniSTSGRCh37
GRCh37579,946,350 - 79,947,059UniSTSGRCh37
GRCh37396,336,563 - 96,337,272UniSTSGRCh37
HuRef393,705,915 - 93,706,624UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
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Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
RH69621  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
RH79212  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map3q11.1UniSTS
GDB:344962  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map3q11.1UniSTS
PMC149466P8  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map2p12UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR24-2hsa-miR-24-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI17686970
MIR24-2hsa-miR-24-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19748357
MIR24-2hsa-miR-24-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR192hsa-miR-192-5pMirecordsexternal_info{unchanged}NA19088023
MIR192hsa-miR-192-5pOncomiRDBexternal_infoNANA19088023
MIR24-1hsa-miR-24-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI17686970
MIR24-1hsa-miR-24-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19748357
MIR24-1hsa-miR-24-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR215hsa-miR-215-3pMirecordsexternal_info{changed}NA20433742

Predicted Target Of
Summary Value
Count of predictions:3201
Count of miRNA genes:940
Interacting mature miRNAs:1117
Transcripts:ENST00000439211, ENST00000504396, ENST00000505337, ENST00000508282, ENST00000511032, ENST00000513048, ENST00000513314
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 280 27 240 175 757 179 405 74 414 201 518 349 10 144 21 4
Low 2155 2824 1480 447 1147 285 3942 2033 3294 217 930 1259 161 1060 2761
Below cutoff 1 133 3 43 1 9 86 3 1 1 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA489055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D61419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU145592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000439211   ⟹   ENSP00000396308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,626,226 - 80,654,983 (-)Ensembl
RefSeq Acc Id: ENST00000504396   ⟹   ENSP00000421334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,628,223 - 80,654,558 (-)Ensembl
RefSeq Acc Id: ENST00000505337   ⟹   ENSP00000426474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,628,017 - 80,654,674 (-)Ensembl
RefSeq Acc Id: ENST00000508282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,629,064 - 80,654,101 (-)Ensembl
RefSeq Acc Id: ENST00000511032   ⟹   ENSP00000422732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,628,124 - 80,654,552 (-)Ensembl
RefSeq Acc Id: ENST00000513048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,628,538 - 80,654,547 (-)Ensembl
RefSeq Acc Id: ENST00000513314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,648,941 - 80,654,035 (-)Ensembl
RefSeq Acc Id: NM_000791   ⟹   NP_000782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,626,226 - 80,654,983 (-)NCBI
GRCh37579,922,045 - 79,950,800 (-)ENTREZGENE
Build 36579,957,801 - 79,986,556 (-)NCBI Archive
HuRef575,130,997 - 75,159,721 (-)ENTREZGENE
CHM1_1579,355,281 - 79,384,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290354   ⟹   NP_001277283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,626,226 - 80,654,983 (-)NCBI
CHM1_1579,355,281 - 79,384,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290357   ⟹   NP_001277286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,626,226 - 80,654,983 (-)NCBI
CHM1_1579,355,281 - 79,384,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110936
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,626,226 - 80,654,983 (-)NCBI
CHM1_1579,355,281 - 79,384,046 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000782   ⟸   NM_000791
- Peptide Label: isoform 1
- UniProtKB: P00374 (UniProtKB/Swiss-Prot),   B0YJ76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001277283   ⟸   NM_001290354
- Peptide Label: isoform 2
- UniProtKB: P00374 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277286   ⟸   NM_001290357
- Peptide Label: isoform 3
- UniProtKB: B4DM58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396308   ⟸   ENST00000439211
RefSeq Acc Id: ENSP00000421334   ⟸   ENST00000504396
RefSeq Acc Id: ENSP00000426474   ⟸   ENST00000505337
RefSeq Acc Id: ENSP00000422732   ⟸   ENST00000511032
Protein Domains
DHFR

Promoters
RGD ID:6849724
Promoter ID:EP07056
Type:single initiation site
Name:HS_DHFR
Description:Dihydrofolate reductase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 35; Mammalian dihydrofolate reductase (DHFR).
Tissues & Cell Lines:[G1/S]
Experiment Methods:Length measurement of an RNA product; RNA Pol II in vitro; system; Nuclease protection with homologous sequence ladder; transfected; or transformed cells; Primer extension; transfected or transformed cells
Position:
Human AssemblyChrPosition (strand)Source
Build 36579,986,135 - 79,986,195EPD
RGD ID:6803019
Promoter ID:HG_KWN:50575
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000791,   UC003KGX.1,   UC010JAP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36579,986,369 - 79,986,869 (-)MPROMDB
RGD ID:6870006
Promoter ID:EPDNEW_H8168
Type:initiation region
Name:DHFR_1
Description:dihydrofolate reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,654,983 - 80,655,043EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002439.5(MSH3):c.181_189dup (p.Ala61_Pro63dup) duplication Endometrial carcinoma [RCV000601631] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1
benign
NM_000791.4(DHFR):c.238C>T (p.Leu80Phe) single nucleotide variant Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV000022524] Chr5:80649393 [GRCh38]
Chr5:79945212 [GRCh37]
Chr5:5q14.1
pathogenic
NM_000791.4(DHFR):c.458A>T (p.Asp153Val) single nucleotide variant Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV000022525] Chr5:80633904 [GRCh38]
Chr5:79929723 [GRCh37]
Chr5:5q14.1
pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1 copy number loss See cases [RCV000052576] Chr5:79665668..81197686 [GRCh38]
Chr5:78961491..80493505 [GRCh37]
Chr5:78997247..80529261 [NCBI36]
Chr5:5q14.1
uncertain significance
NM_000791.4(DHFR):c.485+1G>T single nucleotide variant Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001292898] Chr5:80633876 [GRCh38]
Chr5:79929695 [GRCh37]
Chr5:5q14.1
pathogenic
NM_000791.4(DHFR):c.86+59_86+60insACCTGGGCGGGACGCGCCA insertion Gastrointestinal stromal tumor [RCV000144918] Chr5:80654344..80654345 [GRCh38]
Chr5:79950163..79950164 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.186GCCCCCAGC[3] (p.64PAP[3]) microsatellite not provided [RCV000951258]|not specified [RCV000202801] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1
benign|uncertain significance
NM_000791.4(DHFR):c.90T>G (p.Asn30Lys) single nucleotide variant not provided [RCV000286239] Chr5:80654054 [GRCh38]
Chr5:79949873 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3 copy number gain See cases [RCV000448914] Chr5:79678575..80868550 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_000791.4(DHFR):c.133del (p.Glu45fs) deletion not provided [RCV000480515] Chr5:80654011 [GRCh38]
Chr5:79949830 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_000791.4(DHFR):c.-473T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015285]|Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001285036]|not provided [RCV001511632]|not specified [RCV000454914] Chr5:80654962 [GRCh38]
Chr5:79950781 [GRCh37]
Chr5:5q14.1
benign
NM_000791.4(DHFR):c.-442_-434del deletion Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001285035]|not specified [RCV000455926] Chr5:80654923..80654931 [GRCh38]
Chr5:79950742..79950750 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3 copy number gain not provided [RCV000682570] Chr5:79625636..80884586 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.1(chr5:79923515-79924727)x1 copy number loss not provided [RCV000744888] Chr5:79923515..79924727 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:79923515-79943714)x1 copy number loss not provided [RCV000744889] Chr5:79923515..79943714 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:79939471-80073634)x1 copy number loss not provided [RCV000744890] Chr5:79939471..80073634 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.210C>T (p.Ala70=) single nucleotide variant not provided [RCV000936186] Chr5:80654937 [GRCh38]
Chr5:79950756 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.150C>T (p.Gly50=) single nucleotide variant not provided [RCV000980469] Chr5:80654877 [GRCh38]
Chr5:79950696 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.195G>C (p.Ala65=) single nucleotide variant not provided [RCV000936349] Chr5:80654922 [GRCh38]
Chr5:79950741 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.93G>A (p.Thr31=) single nucleotide variant not provided [RCV001053138] Chr5:80654820 [GRCh38]
Chr5:79950639 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.232C>T (p.His78Tyr) single nucleotide variant not provided [RCV001061079] Chr5:80654959 [GRCh38]
Chr5:79950778 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.67G>A (p.Val23Ile) single nucleotide variant not provided [RCV001056454] Chr5:80654794 [GRCh38]
Chr5:79950613 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.173C>T (p.Ala58Val) single nucleotide variant not provided [RCV000905511] Chr5:80654900 [GRCh38]
Chr5:79950719 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.225G>A (p.Leu75=) single nucleotide variant not provided [RCV000944891] Chr5:80654952 [GRCh38]
Chr5:79950771 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala60_Ala62dup) microsatellite not provided [RCV000901599] Chr5:80654877..80654878 [GRCh38]
Chr5:79950696..79950697 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186_187insGCCGCAGCGCCCGCAGCG (p.Pro63_Pro64insAlaAlaAlaProAlaAla) insertion not provided [RCV000950405]|not specified [RCV001580107] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.126T>C (p.Gly42=) single nucleotide variant not provided [RCV000928053] Chr5:80654853 [GRCh38]
Chr5:79950672 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.114C>G (p.Ser38=) single nucleotide variant not provided [RCV000936466] Chr5:80654841 [GRCh38]
Chr5:79950660 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.153TGCAGCGGC[1] (p.Ala60_Ala62del) microsatellite Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001287743]|not provided [RCV000881733] Chr5:80654878..80654886 [GRCh38]
Chr5:79950697..79950705 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.146C>G (p.Pro49Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011754]|not provided [RCV000936734] Chr5:80654873 [GRCh38]
Chr5:79950692 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_000791.4(DHFR):c.418A>C (p.Met140Leu) single nucleotide variant not provided [RCV000899671] Chr5:80633944 [GRCh38]
Chr5:79929763 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.237+10G>A single nucleotide variant not provided [RCV000937263] Chr5:80654974 [GRCh38]
Chr5:79950793 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.171C>G (p.Ala57=) single nucleotide variant not provided [RCV000944321] Chr5:80654898 [GRCh38]
Chr5:79950717 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186G>A (p.Ala62=) single nucleotide variant not provided [RCV000976347] Chr5:80654913 [GRCh38]
Chr5:79950732 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.169GCCGCAGCG[1] (p.Ala60_Ala62del) microsatellite Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001001678]|not provided [RCV000973643] Chr5:80654890..80654898 [GRCh38]
Chr5:79950709..79950717 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.88T>C (p.Ser30Pro) single nucleotide variant not provided [RCV001071074] Chr5:80654815 [GRCh38]
Chr5:79950634 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.14A>G (p.Lys5Arg) single nucleotide variant not provided [RCV001071481] Chr5:80654741 [GRCh38]
Chr5:79950560 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.226C>G (p.Pro76Ala) single nucleotide variant not provided [RCV001044294] Chr5:80654953 [GRCh38]
Chr5:79950772 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.22T>A (p.Ser8Thr) single nucleotide variant not provided [RCV001044427] Chr5:80654749 [GRCh38]
Chr5:79950568 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.97A>C (p.Ser33Arg) single nucleotide variant not provided [RCV001050847] Chr5:80654824 [GRCh38]
Chr5:79950643 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly) single nucleotide variant not provided [RCV001067465] Chr5:80654824 [GRCh38]
Chr5:79950643 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.130G>C (p.Ala44Pro) single nucleotide variant not provided [RCV001045224] Chr5:80654857 [GRCh38]
Chr5:79950676 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654718)_(80656541_?)dup duplication not provided [RCV001031542] Chr5:79950537..79952360 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.202G>C (p.Ala68Pro) single nucleotide variant not provided [RCV001061737] Chr5:80654929 [GRCh38]
Chr5:79950748 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.191C>T (p.Pro64Leu) single nucleotide variant not provided [RCV001061439] Chr5:80654918 [GRCh38]
Chr5:79950737 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80670319_?)dup duplication not provided [RCV001031384] Chr5:79949868..79966138 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80679103_?)del deletion not provided [RCV001032256] Chr5:79949868..79974922 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.237+5G>T single nucleotide variant not provided [RCV001036598] Chr5:80654969 [GRCh38]
Chr5:79950788 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+6T>G single nucleotide variant not provided [RCV000814297] Chr5:80654970 [GRCh38]
Chr5:79950789 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.111C>T (p.Thr37=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009916]|not provided [RCV000881995] Chr5:80654838 [GRCh38]
Chr5:79950657 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) deletion Familial adenomatous polyposis 4 [RCV000987529]|Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001000293]|not provided [RCV000948701] Chr5:80654881..80654898 [GRCh38]
Chr5:79950700..79950717 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.69T>C (p.Val23=) single nucleotide variant not provided [RCV000975281] Chr5:80654796 [GRCh38]
Chr5:79950615 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.216G>A (p.Pro72=) single nucleotide variant not provided [RCV000977923] Chr5:80654943 [GRCh38]
Chr5:79950762 [GRCh37]
Chr5:5q14.1
likely benign
NM_000791.4(DHFR):c.441G>A (p.Thr147=) single nucleotide variant not provided [RCV000897789] Chr5:80633921 [GRCh38]
Chr5:79929740 [GRCh37]
Chr5:5q14.1
likely benign
NM_000791.4(DHFR):c.558T>C (p.Asn186=) single nucleotide variant not provided [RCV000939289] Chr5:80629093 [GRCh38]
Chr5:79924912 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.192A>C (p.Pro64=) single nucleotide variant not provided [RCV000981550] Chr5:80654919 [GRCh38]
Chr5:79950738 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.102G>C (p.Leu34=) single nucleotide variant not provided [RCV000918749] Chr5:80654829 [GRCh38]
Chr5:79950648 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.195G>T (p.Ala65=) single nucleotide variant not provided [RCV000940865] Chr5:80654922 [GRCh38]
Chr5:79950741 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.141G>A (p.Val47=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011497]|not provided [RCV000943691] Chr5:80654868 [GRCh38]
Chr5:79950687 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186GCCCCCAGC[4] (p.64PAP[4]) microsatellite not provided [RCV000970131] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.129A>G (p.Ala43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010590]|not provided [RCV000950688] Chr5:80654856 [GRCh38]
Chr5:79950675 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.144C>T (p.Asp48=) single nucleotide variant not provided [RCV000938647] Chr5:80654871 [GRCh38]
Chr5:79950690 [GRCh37]
Chr5:5q14.1
likely benign
GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3 copy number gain not provided [RCV000845611] Chr5:79664621..80767791 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.48A>T (p.Ser16=) single nucleotide variant not provided [RCV000937710] Chr5:80654775 [GRCh38]
Chr5:79950594 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.212T>C (p.Phe71Ser) single nucleotide variant not provided [RCV000820857] Chr5:80654939 [GRCh38]
Chr5:79950758 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.113C>T (p.Ser38Phe) single nucleotide variant not provided [RCV000802703] Chr5:80654840 [GRCh38]
Chr5:79950659 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.15G>T (p.Lys5Asn) single nucleotide variant not provided [RCV000796995] Chr5:80654742 [GRCh38]
Chr5:79950561 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.172G>C (p.Ala58Pro) single nucleotide variant not provided [RCV000937816] Chr5:80654899 [GRCh38]
Chr5:79950718 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.237+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015316]|not provided [RCV000821174] Chr5:80654967 [GRCh38]
Chr5:79950786 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.188C>T (p.Pro63Leu) single nucleotide variant not provided [RCV000798529] Chr5:80654915 [GRCh38]
Chr5:79950734 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.230C>T (p.Pro77Leu) single nucleotide variant not provided [RCV000804862] Chr5:80654957 [GRCh38]
Chr5:79950776 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.115T>A (p.Ser39Thr) single nucleotide variant not provided [RCV000803297] Chr5:80654842 [GRCh38]
Chr5:79950661 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.92C>T (p.Thr31Met) single nucleotide variant not provided [RCV000824036] Chr5:80654819 [GRCh38]
Chr5:79950638 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.234_235inv (p.Ile79Val) inversion not provided [RCV000937401] Chr5:80654961..80654962 [GRCh38]
Chr5:79950780..79950781 [GRCh37]
Chr5:5q14.1
likely benign
NC_000005.9:g.(?_79950537)_(79966138_?)dup duplication not provided [RCV000821276] Chr5:80654718..80670319 [GRCh38]
Chr5:79950537..79966138 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.22T>C (p.Ser8Pro) single nucleotide variant not provided [RCV000794081] Chr5:80654749 [GRCh38]
Chr5:79950568 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.167C>T (p.Ala56Val) single nucleotide variant not provided [RCV000797926] Chr5:80654894 [GRCh38]
Chr5:79950713 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.122C>T (p.Thr41Ile) single nucleotide variant not provided [RCV000805138] Chr5:80654849 [GRCh38]
Chr5:79950668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.146del (p.Pro49fs) deletion not provided [RCV000803335] Chr5:80654871 [GRCh38]
Chr5:79950690 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.89C>T (p.Ser30Phe) single nucleotide variant not provided [RCV000814997] Chr5:80654816 [GRCh38]
Chr5:79950635 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.209C>T (p.Ala70Val) single nucleotide variant not provided [RCV000818464] Chr5:80654936 [GRCh38]
Chr5:79950755 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.175G>A (p.Ala59Thr) single nucleotide variant not provided [RCV000822107] Chr5:80654902 [GRCh38]
Chr5:79950721 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.162T>C (p.Ala54=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012494]|not provided [RCV000958815] Chr5:80654889 [GRCh38]
Chr5:79950708 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017957]|not provided [RCV000818648] Chr5:80654729 [GRCh38]
Chr5:79950548 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.66G>A (p.Ala22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025550]|not provided [RCV000938032] Chr5:80654793 [GRCh38]
Chr5:79950612 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.215C>A (p.Pro72Gln) single nucleotide variant not provided [RCV000808917] Chr5:80654942 [GRCh38]
Chr5:79950761 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.122C>G (p.Thr41Arg) single nucleotide variant not provided [RCV000815604] Chr5:80654849 [GRCh38]
Chr5:79950668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.20C>G (p.Ala7Gly) single nucleotide variant not provided [RCV000805858] Chr5:80654747 [GRCh38]
Chr5:79950566 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.110C>A (p.Thr37Asn) single nucleotide variant not provided [RCV000796937] Chr5:80654837 [GRCh38]
Chr5:79950656 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.122C>A (p.Thr41Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010447]|not provided [RCV000800845] Chr5:80654849 [GRCh38]
Chr5:79950668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.59G>A (p.Arg20Lys) single nucleotide variant not provided [RCV000820855] Chr5:80654786 [GRCh38]
Chr5:79950605 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.86A>G (p.Gln29Arg) single nucleotide variant not provided [RCV000817963] Chr5:80654813 [GRCh38]
Chr5:79950632 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.106T>G (p.Ser36Ala) single nucleotide variant not provided [RCV000802127] Chr5:80654833 [GRCh38]
Chr5:79950652 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1A>T (p.Met1Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013981]|not provided [RCV000821779] Chr5:80654728 [GRCh38]
Chr5:79950547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.16C>T (p.Pro6Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012792]|not provided [RCV000805347] Chr5:80654743 [GRCh38]
Chr5:79950562 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.131C>G (p.Ala44Gly) single nucleotide variant not provided [RCV000811256] Chr5:80654858 [GRCh38]
Chr5:79950677 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.34G>A (p.Ala12Thr) single nucleotide variant not provided [RCV000795775] Chr5:80654761 [GRCh38]
Chr5:79950580 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.189_190insGCAGCGGCCGCAGCGCCCGCAGCGCCC (p.Pro64_Ala65insAlaAlaAlaAlaAlaProAlaAlaPro) insertion not specified [RCV000790995] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.115T>C (p.Ser39Pro) single nucleotide variant not provided [RCV000807580] Chr5:80654842 [GRCh38]
Chr5:79950661 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.178G>C (p.Ala60Pro) single nucleotide variant Cavernous sinus meningioma [RCV000786036]|Hereditary cancer-predisposing syndrome [RCV001013164]|not provided [RCV001357722] Chr5:80654905 [GRCh38]
Chr5:79950724 [GRCh37]
Chr5:5q14.1
benign|likely benign|uncertain significance
NM_002439.5(MSH3):c.143A>C (p.Asp48Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011581]|not provided [RCV000792699] Chr5:80654870 [GRCh38]
Chr5:79950689 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015317]|not provided [RCV000811851] Chr5:80654968 [GRCh38]
Chr5:79950787 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.112TCC[2] (p.Ser40del) microsatellite not provided [RCV000806736] Chr5:80654837..80654839 [GRCh38]
Chr5:79950656..79950658 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.31C>G (p.Leu11Val) single nucleotide variant not provided [RCV000801693] Chr5:80654758 [GRCh38]
Chr5:79950577 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.145C>T (p.Pro49Ser) single nucleotide variant not provided [RCV000807326] Chr5:80654872 [GRCh38]
Chr5:79950691 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.227CGC[3] (p.Pro77dup) microsatellite Hereditary cancer-predisposing syndrome [RCV001015119]|not provided [RCV000812566] Chr5:80654951..80654952 [GRCh38]
Chr5:79950770..79950771 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.121A>G (p.Thr41Ala) single nucleotide variant not provided [RCV000798972] Chr5:80654848 [GRCh38]
Chr5:79950667 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.205C>G (p.Pro69Ala) single nucleotide variant not provided [RCV000812751] Chr5:80654932 [GRCh38]
Chr5:79950751 [GRCh37]
Chr5:5q14.1
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002439.5(MSH3):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV000796558] Chr5:80654747 [GRCh38]
Chr5:79950566 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654718)_(80679103_?)del deletion not provided [RCV000796139] Chr5:80654718..80679103 [GRCh38]
Chr5:79950537..79974922 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000816198] Chr5:80654728 [GRCh38]
Chr5:79950547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.91A>G (p.Thr31Ala) single nucleotide variant not provided [RCV000813159] Chr5:80654818 [GRCh38]
Chr5:79950637 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.26G>A (p.Gly9Asp) single nucleotide variant not provided [RCV000797567] Chr5:80654753 [GRCh38]
Chr5:79950572 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+7T>G single nucleotide variant not provided [RCV000939198] Chr5:80654971 [GRCh38]
Chr5:79950790 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.222G>C (p.Gln74His) single nucleotide variant not provided [RCV001053804] Chr5:80654949 [GRCh38]
Chr5:79950768 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.7C>T (p.Arg3Cys) single nucleotide variant not provided [RCV001059419] Chr5:80654734 [GRCh38]
Chr5:79950553 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.179C>T (p.Ala60Val) single nucleotide variant not provided [RCV001215740] Chr5:80654906 [GRCh38]
Chr5:79950725 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.142G>A (p.Asp48Asn) single nucleotide variant not provided [RCV001215915] Chr5:80654869 [GRCh38]
Chr5:79950688 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.14A>T (p.Lys5Met) single nucleotide variant not provided [RCV001224174] Chr5:80654741 [GRCh38]
Chr5:79950560 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.164C>A (p.Ala55Glu) single nucleotide variant not provided [RCV001239068] Chr5:80654891 [GRCh38]
Chr5:79950710 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+5G>A single nucleotide variant not provided [RCV001231798] Chr5:80654969 [GRCh38]
Chr5:79950788 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+3A>C single nucleotide variant not provided [RCV001234712] Chr5:80654967 [GRCh38]
Chr5:79950786 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.139G>A (p.Val47Met) single nucleotide variant not provided [RCV001241431] Chr5:80654866 [GRCh38]
Chr5:79950685 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.211_230dup (p.His78fs) duplication not provided [RCV001214981] Chr5:80654932..80654933 [GRCh38]
Chr5:79950751..79950752 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.26G>T (p.Gly9Val) single nucleotide variant not provided [RCV001210126] Chr5:80654753 [GRCh38]
Chr5:79950572 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.200C>G (p.Pro67Arg) single nucleotide variant not provided [RCV001233847] Chr5:80654927 [GRCh38]
Chr5:79950746 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.148G>A (p.Gly50Ser) single nucleotide variant not provided [RCV001233716] Chr5:80654875 [GRCh38]
Chr5:79950694 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.161C>G (p.Ala54Gly) single nucleotide variant not provided [RCV001230082] Chr5:80654888 [GRCh38]
Chr5:79950707 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3 copy number gain not provided [RCV001005691] Chr5:79528733..80545287 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.81C>T (p.Phe27=) single nucleotide variant not provided [RCV000944324] Chr5:80654808 [GRCh38]
Chr5:79950627 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.181G>C (p.Ala61Pro) single nucleotide variant not provided [RCV000899922] Chr5:80654908 [GRCh38]
Chr5:79950727 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.186GCCCCCAGC[5] (p.64PAP[5]) microsatellite not provided [RCV000958816] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.222G>A (p.Gln74=) single nucleotide variant not provided [RCV000939334] Chr5:80654949 [GRCh38]
Chr5:79950768 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.135C>T (p.Asp45=) single nucleotide variant not provided [RCV000944970] Chr5:80654862 [GRCh38]
Chr5:79950681 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.21G>A (p.Ala7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014749]|Megaloblastic anemia due to dihydrofolate reductase deficiency [RCV001287831]|not provided [RCV000958800]|not specified [RCV001579957] Chr5:80654748 [GRCh38]
Chr5:79950567 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.225G>T (p.Leu75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014964]|not provided [RCV000925527] Chr5:80654952 [GRCh38]
Chr5:79950771 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro) single nucleotide variant not provided [RCV000936960] Chr5:80654896 [GRCh38]
Chr5:79950715 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.237+8C>T single nucleotide variant not provided [RCV000975769] Chr5:80654972 [GRCh38]
Chr5:79950791 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.132C>G (p.Ala44=) single nucleotide variant not provided [RCV000928426] Chr5:80654859 [GRCh38]
Chr5:79950678 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.24G>A (p.Ser8=) single nucleotide variant not provided [RCV000928467] Chr5:80654751 [GRCh38]
Chr5:79950570 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.207C>T (p.Pro69=) single nucleotide variant not provided [RCV000943768] Chr5:80654934 [GRCh38]
Chr5:79950753 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.150C>A (p.Gly50=) single nucleotide variant not provided [RCV000981915] Chr5:80654877 [GRCh38]
Chr5:79950696 [GRCh37]
Chr5:5q14.1
likely benign
NM_000791.4(DHFR):c.86+10G>A single nucleotide variant not provided [RCV000895497] Chr5:80654394 [GRCh38]
Chr5:79950213 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.63A>G (p.Gln21=) single nucleotide variant not provided [RCV000940021] Chr5:80654790 [GRCh38]
Chr5:79950609 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.57G>A (p.Ala19=) single nucleotide variant not provided [RCV000938901] Chr5:80654784 [GRCh38]
Chr5:79950603 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.8G>A (p.Arg3His) single nucleotide variant not provided [RCV001244351] Chr5:80654735 [GRCh38]
Chr5:79950554 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.49G>A (p.Ala17Thr) single nucleotide variant not provided [RCV001220271] Chr5:80654776 [GRCh38]
Chr5:79950595 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.34G>T (p.Ala12Ser) single nucleotide variant not provided [RCV001240520] Chr5:80654761 [GRCh38]
Chr5:79950580 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.10C>T (p.Arg4Trp) single nucleotide variant not provided [RCV001245568] Chr5:80654737 [GRCh38]
Chr5:79950556 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80679103_?)dup duplication not provided [RCV001031425] Chr5:79949868..79974922 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.191C>A (p.Pro64Gln) single nucleotide variant not provided [RCV001224302] Chr5:80654918 [GRCh38]
Chr5:79950737 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.235A>T (p.Ile79Leu) single nucleotide variant not provided [RCV001224842] Chr5:80654962 [GRCh38]
Chr5:79950781 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.98G>A (p.Ser33Asn) single nucleotide variant not provided [RCV001209776] Chr5:80654825 [GRCh38]
Chr5:79950644 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.14del (p.Lys5fs) deletion not provided [RCV001210285] Chr5:80654740 [GRCh38]
Chr5:79950559 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.169GCCGCAGCG[3] (p.Ala60_Ala62dup) microsatellite not provided [RCV000891396] Chr5:80654889..80654890 [GRCh38]
Chr5:79950708..79950709 [GRCh37]
Chr5:5q14.1
likely benign
NM_000791.4(DHFR):c.86+8C>T single nucleotide variant not provided [RCV000913648] Chr5:80654396 [GRCh38]
Chr5:79950215 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.198C>T (p.Pro66=) single nucleotide variant not provided [RCV000913991] Chr5:80654925 [GRCh38]
Chr5:79950744 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186GCCCCCAGC[1] (p.64PAP[1]) microsatellite not provided [RCV000890699] Chr5:80654909..80654917 [GRCh38]
Chr5:79950728..79950736 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.57G>T (p.Ala19=) single nucleotide variant not provided [RCV000935389] Chr5:80654784 [GRCh38]
Chr5:79950603 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.96A>C (p.Gly32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019649]|not provided [RCV000935494] Chr5:80654823 [GRCh38]
Chr5:79950642 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.193G>C (p.Ala65Pro) single nucleotide variant not provided [RCV000935547] Chr5:80654920 [GRCh38]
Chr5:79950739 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV001053269] Chr5:80654762 [GRCh38]
Chr5:79950581 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+2T>C single nucleotide variant not provided [RCV001053813] Chr5:80654966 [GRCh38]
Chr5:79950785 [GRCh37]
Chr5:5q14.1
likely pathogenic
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
GRCh37/hg19 5q14.1(chr5:79705427-80237350)x3 copy number gain not provided [RCV001005692] Chr5:79705427..80237350 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.107C>G (p.Ser36Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009835]|not provided [RCV001220916] Chr5:80654834 [GRCh38]
Chr5:79950653 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237A>G (p.Ile79Met) single nucleotide variant not provided [RCV001065546] Chr5:80654964 [GRCh38]
Chr5:79950783 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.77G>A (p.Arg26Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026824]|not provided [RCV001042443] Chr5:80654804 [GRCh38]
Chr5:79950623 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.218C>G (p.Pro73Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014704] Chr5:80654945 [GRCh38]
Chr5:79950764 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.203C>T (p.Ala68Val) single nucleotide variant not provided [RCV001042041] Chr5:80654930 [GRCh38]
Chr5:79950749 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.172G>A (p.Ala58Thr) single nucleotide variant not provided [RCV001212671] Chr5:80654899 [GRCh38]
Chr5:79950718 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.144C>G (p.Asp48Glu) single nucleotide variant not provided [RCV001051213] Chr5:80654871 [GRCh38]
Chr5:79950690 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.5C>T (p.Ser2Phe) single nucleotide variant not provided [RCV001070709] Chr5:80654732 [GRCh38]
Chr5:79950551 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr) single nucleotide variant not provided [RCV001051693] Chr5:80654854 [GRCh38]
Chr5:79950673 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.56C>G (p.Ala19Gly) single nucleotide variant not provided [RCV001205761] Chr5:80654783 [GRCh38]
Chr5:79950602 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.19G>A (p.Ala7Thr) single nucleotide variant not provided [RCV001207714] Chr5:80654746 [GRCh38]
Chr5:79950565 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80875862_?)dup duplication not provided [RCV001031234] Chr5:79949868..80171681 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.227C>G (p.Pro76Arg) single nucleotide variant not provided [RCV001035875] Chr5:80654954 [GRCh38]
Chr5:79950773 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.137A>G (p.Gln46Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011257]|not provided [RCV001364602] Chr5:80654864 [GRCh38]
Chr5:79950683 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.88T>G (p.Ser30Ala) single nucleotide variant not provided [RCV001217113] Chr5:80654815 [GRCh38]
Chr5:79950634 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.26G>C (p.Gly9Ala) single nucleotide variant not provided [RCV001205984] Chr5:80654753 [GRCh38]
Chr5:79950572 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.137A>C (p.Gln46Pro) single nucleotide variant not provided [RCV001045089] Chr5:80654864 [GRCh38]
Chr5:79950683 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.50C>T (p.Ala17Val) single nucleotide variant not provided [RCV001218095] Chr5:80654777 [GRCh38]
Chr5:79950596 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.188C>G (p.Pro63Arg) single nucleotide variant not provided [RCV001215142] Chr5:80654915 [GRCh38]
Chr5:79950734 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.74G>A (p.Ser25Asn) single nucleotide variant not provided [RCV001038238] Chr5:80654801 [GRCh38]
Chr5:79950620 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.235A>C (p.Ile79Leu) single nucleotide variant not provided [RCV001035801] Chr5:80654962 [GRCh38]
Chr5:79950781 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.134A>G (p.Asp45Gly) single nucleotide variant not provided [RCV001203707] Chr5:80654861 [GRCh38]
Chr5:79950680 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.208G>A (p.Ala70Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014396] Chr5:80654935 [GRCh38]
Chr5:79950754 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.128C>T (p.Ala43Val) single nucleotide variant not provided [RCV001036683] Chr5:80654855 [GRCh38]
Chr5:79950674 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.215C>T (p.Pro72Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014485]|not provided [RCV001039364] Chr5:80654942 [GRCh38]
Chr5:79950761 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.234_235delinsAG (p.His78_Ile79delinsGlnVal) indel not provided [RCV001037636] Chr5:80654961..80654962 [GRCh38]
Chr5:79950780..79950781 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.75C>G (p.Ser25Arg) single nucleotide variant not provided [RCV001230805] Chr5:80654802 [GRCh38]
Chr5:79950621 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.226C>T (p.Pro76Ser) single nucleotide variant not provided [RCV001230699] Chr5:80654953 [GRCh38]
Chr5:79950772 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.234C>G (p.His78Gln) single nucleotide variant not provided [RCV001202809] Chr5:80654961 [GRCh38]
Chr5:79950780 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.29G>C (p.Gly10Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017899] Chr5:80654756 [GRCh38]
Chr5:79950575 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.11G>A (p.Arg4Gln) single nucleotide variant not provided [RCV001064010] Chr5:80654738 [GRCh38]
Chr5:79950557 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.50C>G (p.Ala17Gly) single nucleotide variant not provided [RCV001066125] Chr5:80654777 [GRCh38]
Chr5:79950596 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.9:g.(?_79949868)_(79952360_?)dup duplication not provided [RCV001313866] Chr5:79949868..79952360 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+6T>C single nucleotide variant not provided [RCV001297443] Chr5:80654970 [GRCh38]
Chr5:79950789 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.162_163insACAGCGGCC (p.Ala55_Ala56insThrAlaAla) insertion not provided [RCV001300668] Chr5:80654889..80654890 [GRCh38]
Chr5:79950708..79950709 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.79T>C (p.Phe27Leu) single nucleotide variant not provided [RCV001307643] Chr5:80654806 [GRCh38]
Chr5:79950625 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.193G>A (p.Ala65Thr) single nucleotide variant not provided [RCV001343040] Chr5:80654920 [GRCh38]
Chr5:79950739 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.214C>G (p.Pro72Ala) single nucleotide variant not provided [RCV001302006] Chr5:80654941 [GRCh38]
Chr5:79950760 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.155C>A (p.Ala52Glu) single nucleotide variant not provided [RCV001337341] Chr5:80654882 [GRCh38]
Chr5:79950701 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter) single nucleotide variant not provided [RCV001383336] Chr5:80654803 [GRCh38]
Chr5:79950622 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.223C>A (p.Leu75Met) single nucleotide variant not provided [RCV001368441] Chr5:80654950 [GRCh38]
Chr5:79950769 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.187C>G (p.Pro63Ala) single nucleotide variant not provided [RCV001354683] Chr5:80654914 [GRCh38]
Chr5:79950733 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.53C>G (p.Pro18Arg) single nucleotide variant not provided [RCV001324727] Chr5:80654780 [GRCh38]
Chr5:79950599 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.65C>A (p.Ala22Glu) single nucleotide variant not provided [RCV001306496] Chr5:80654792 [GRCh38]
Chr5:79950611 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.43A>G (p.Ser15Gly) single nucleotide variant not provided [RCV001337753] Chr5:80654770 [GRCh38]
Chr5:79950589 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.121A>C (p.Thr41Pro) single nucleotide variant not provided [RCV001360709] Chr5:80654848 [GRCh38]
Chr5:79950667 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.190C>A (p.Pro64Thr) single nucleotide variant not provided [RCV001296002] Chr5:80654917 [GRCh38]
Chr5:79950736 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.133G>C (p.Asp45His) single nucleotide variant not provided [RCV001317776] Chr5:80654860 [GRCh38]
Chr5:79950679 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+3A>T single nucleotide variant not provided [RCV001344917] Chr5:80654967 [GRCh38]
Chr5:79950786 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.67G>T (p.Val23Phe) single nucleotide variant not provided [RCV001315937] Chr5:80654794 [GRCh38]
Chr5:79950613 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.161C>T (p.Ala54Val) single nucleotide variant not provided [RCV001372228] Chr5:80654888 [GRCh38]
Chr5:79950707 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.205C>A (p.Pro69Thr) single nucleotide variant not provided [RCV001323376] Chr5:80654932 [GRCh38]
Chr5:79950751 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.79T>G (p.Phe27Val) single nucleotide variant not provided [RCV001370013] Chr5:80654806 [GRCh38]
Chr5:79950625 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.189_190insGCACTGCCC (p.Pro64_Ala65insAlaLeuPro) insertion not provided [RCV001315057] Chr5:80654912..80654913 [GRCh38]
Chr5:79950731..79950732 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.40_42dup (p.Ser16dup) duplication not provided [RCV001323489] Chr5:80654764..80654765 [GRCh38]
Chr5:79950583..79950584 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.185C>G (p.Ala62Gly) single nucleotide variant not provided [RCV001361920] Chr5:80654912 [GRCh38]
Chr5:79950731 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.217C>T (p.Pro73Ser) single nucleotide variant not provided [RCV001344407] Chr5:80654944 [GRCh38]
Chr5:79950763 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.9:g.(?_79949868)_(80171681_?)dup duplication not provided [RCV001304487] Chr5:79949868..80171681 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.224T>C (p.Leu75Pro) single nucleotide variant not provided [RCV001370631] Chr5:80654951 [GRCh38]
Chr5:79950770 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.229C>T (p.Pro77Ser) single nucleotide variant not provided [RCV001326155] Chr5:80654956 [GRCh38]
Chr5:79950775 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.185C>T (p.Ala62Val) single nucleotide variant not provided [RCV001351509] Chr5:80654912 [GRCh38]
Chr5:79950731 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+7T>C single nucleotide variant not provided [RCV001395213] Chr5:80654971 [GRCh38]
Chr5:79950790 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.227C>T (p.Pro76Leu) single nucleotide variant not provided [RCV001351734] Chr5:80654954 [GRCh38]
Chr5:79950773 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.195G>A (p.Ala65=) single nucleotide variant not provided [RCV001470227] Chr5:80654922 [GRCh38]
Chr5:79950741 [GRCh37]
Chr5:5q14.1
likely benign
NC_000005.9:g.(?_79949868)_(79952360_?)del deletion not provided [RCV001387482] Chr5:79949868..79952360 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.132C>A (p.Ala44=) single nucleotide variant not provided [RCV001492822] Chr5:80654859 [GRCh38]
Chr5:79950678 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.231G>T (p.Pro77=) single nucleotide variant not provided [RCV001482999] Chr5:80654958 [GRCh38]
Chr5:79950777 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.177G>A (p.Ala59=) single nucleotide variant not provided [RCV001437295] Chr5:80654904 [GRCh38]
Chr5:79950723 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.108C>T (p.Ser36=) single nucleotide variant not provided [RCV001393283] Chr5:80654835 [GRCh38]
Chr5:79950654 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.60G>A (p.Arg20=) single nucleotide variant not provided [RCV001493536] Chr5:80654787 [GRCh38]
Chr5:79950606 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.237+10G>C single nucleotide variant not provided [RCV001505089] Chr5:80654974 [GRCh38]
Chr5:79950793 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.165A>G (p.Ala55=) single nucleotide variant not provided [RCV001443294] Chr5:80654892 [GRCh38]
Chr5:79950711 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter) single nucleotide variant not provided [RCV001389279] Chr5:80654863 [GRCh38]
Chr5:79950682 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.171C>T (p.Ala57=) single nucleotide variant not provided [RCV001409558] Chr5:80654898 [GRCh38]
Chr5:79950717 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.237+1G>C single nucleotide variant not provided [RCV001379270] Chr5:80654965 [GRCh38]
Chr5:79950784 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.205_224dup (p.His78fs) duplication not provided [RCV001385432] Chr5:80654923..80654924 [GRCh38]
Chr5:79950742..79950743 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.153T>C (p.Ala51=) single nucleotide variant not provided [RCV001446625] Chr5:80654880 [GRCh38]
Chr5:79950699 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.45C>T (p.Ser15=) single nucleotide variant not provided [RCV001440033] Chr5:80654772 [GRCh38]
Chr5:79950591 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.159G>T (p.Ala53=) single nucleotide variant not provided [RCV001441862] Chr5:80654886 [GRCh38]
Chr5:79950705 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.36T>C (p.Ala12=) single nucleotide variant not provided [RCV001447195] Chr5:80654763 [GRCh38]
Chr5:79950582 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.72G>A (p.Leu24=) single nucleotide variant not provided [RCV001401185] Chr5:80654799 [GRCh38]
Chr5:79950618 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.189C>T (p.Pro63=) single nucleotide variant not provided [RCV001442792] Chr5:80654916 [GRCh38]
Chr5:79950735 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.213C>T (p.Phe71=) single nucleotide variant not provided [RCV001411152] Chr5:80654940 [GRCh38]
Chr5:79950759 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.213_220dup (p.Gln74fs) duplication not provided [RCV001384316] Chr5:80654939..80654940 [GRCh38]
Chr5:79950758..79950759 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.114C>T (p.Ser38=) single nucleotide variant not provided [RCV001432500] Chr5:80654841 [GRCh38]
Chr5:79950660 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.219C>T (p.Pro73=) single nucleotide variant not provided [RCV001489784] Chr5:80654946 [GRCh38]
Chr5:79950765 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.210C>G (p.Ala70=) single nucleotide variant not provided [RCV001501897] Chr5:80654937 [GRCh38]
Chr5:79950756 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.177G>C (p.Ala59=) single nucleotide variant not provided [RCV001454796] Chr5:80654904 [GRCh38]
Chr5:79950723 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.24G>C (p.Ser8=) single nucleotide variant not provided [RCV001459249] Chr5:80654751 [GRCh38]
Chr5:79950570 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.168G>A (p.Ala56=) single nucleotide variant not provided [RCV001487423] Chr5:80654895 [GRCh38]
Chr5:79950714 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.223C>T (p.Leu75=) single nucleotide variant not provided [RCV001460586] Chr5:80654950 [GRCh38]
Chr5:79950769 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.33C>T (p.Leu11=) single nucleotide variant not provided [RCV001456960] Chr5:80654760 [GRCh38]
Chr5:79950579 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.198C>G (p.Pro66=) single nucleotide variant not provided [RCV001431286] Chr5:80654925 [GRCh38]
Chr5:79950744 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.129A>T (p.Ala43=) single nucleotide variant not provided [RCV001488782] Chr5:80654856 [GRCh38]
Chr5:79950675 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.159G>A (p.Ala53=) single nucleotide variant not provided [RCV001427655] Chr5:80654886 [GRCh38]
Chr5:79950705 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.207C>A (p.Pro69=) single nucleotide variant not provided [RCV001432916] Chr5:80654934 [GRCh38]
Chr5:79950753 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.150C>G (p.Gly50=) single nucleotide variant not provided [RCV001500997] Chr5:80654877 [GRCh38]
Chr5:79950696 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV001454838] Chr5:80654907 [GRCh38]
Chr5:79950726 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.216G>C (p.Pro72=) single nucleotide variant not provided [RCV001435242] Chr5:80654943 [GRCh38]
Chr5:79950762 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.147T>C (p.Pro49=) single nucleotide variant not provided [RCV001441885] Chr5:80654874 [GRCh38]
Chr5:79950693 [GRCh37]
Chr5:5q14.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2861 AgrOrtholog
COSMIC DHFR COSMIC
Ensembl Genes ENSG00000228716 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000396308 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421334 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422732 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000426474 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000439211 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504396 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000505337 UniProtKB/Swiss-Prot
  ENST00000511032 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.40.430.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000228716 GTEx
HGNC ID HGNC:2861 ENTREZGENE
Human Proteome Map DHFR Human Proteome Map
InterPro DHFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHFR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHFR_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHFR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1719 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1719 ENTREZGENE
OMIM 126060 OMIM
  613839 OMIM
PANTHER PTHR48069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DHFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB DHFR RGD, PharmGKB
PROSITE DHFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53597 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAQ3_HUMAN UniProtKB/TrEMBL
  B0YJ76 ENTREZGENE, UniProtKB/TrEMBL
  B4DM58 ENTREZGENE, UniProtKB/TrEMBL
  DYR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DDD2 UniProtKB/Swiss-Prot
  Q14130 UniProtKB/Swiss-Prot
  Q6IRW8 UniProtKB/Swiss-Prot