FMO5 (flavin containing dimethylaniline monoxygenase 5) - Rat Genome Database
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Gene: FMO5 (flavin containing dimethylaniline monoxygenase 5) Homo sapiens
Analyze
Symbol: FMO5
Name: flavin containing dimethylaniline monoxygenase 5
RGD ID: 733168
HGNC Page HGNC
Description: Exhibits aldehyde oxidase activity and monooxygenase activity. Involved in NADPH oxidation and drug metabolic process. Localizes to cytosol and endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: baeyer-Villiger monooxygenase 1; dimethylaniline monooxygenase [N-oxide-forming] 5; dimethylaniline oxidase 5; flavin containing monooxygenase; flavin containing monooxygenase 5; flavin-containing monooxygenase 5; FMO 5; hBVMO1; hepatic flavin-containing monooxygenase 5; NAPDH oxidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: FMO10P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1147,175,351 - 147,243,050 (-)EnsemblGRCh38hg38GRCh38
GRCh381147,183,963 - 147,225,798 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371146,655,884 - 146,696,931 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,124,462 - 145,163,546 (-)NCBINCBI36hg18NCBI36
Build 341143,882,653 - 143,921,738NCBI
Celera1122,287,637 - 122,328,963 (+)NCBI
Cytogenetic Map1q21.1NCBI
HuRef1120,068,389 - 120,109,734 (-)NCBIHuRef
CHM1_11148,552,431 - 148,593,764 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphibole asbestos  (EXP)
antirheumatic drug  (EXP)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
Benzo[ghi]perylene  (ISO)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
cobalt dichloride  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
D-penicillamine  (EXP)
dibenz[a,h]anthracene  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
irinotecan  (ISO)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quartz  (EXP)
quercetin  (EXP,ISO)
riddelliine  (ISO)
rotenone  (ISO)
selenium atom  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
zinc atom  (EXP)
zinc pyrithione  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7720101   PMID:7872795   PMID:8125298   PMID:8128486   PMID:8311461   PMID:9119381   PMID:9305407   PMID:11128045   PMID:11551524   PMID:12477932   PMID:12490590   PMID:12527699  
PMID:14702039   PMID:16183778   PMID:16344560   PMID:16710414   PMID:19834535   PMID:19898482   PMID:20379614   PMID:20947616   PMID:21873635   PMID:25240745   PMID:26771671   PMID:26839369  
PMID:28514442   PMID:28783300  


Genomics

Comparative Map Data
FMO5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1147,175,351 - 147,243,050 (-)EnsemblGRCh38hg38GRCh38
GRCh381147,183,963 - 147,225,798 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371146,655,884 - 146,696,931 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,124,462 - 145,163,546 (-)NCBINCBI36hg18NCBI36
Build 341143,882,653 - 143,921,738NCBI
Celera1122,287,637 - 122,328,963 (+)NCBI
Cytogenetic Map1q21.1NCBI
HuRef1120,068,389 - 120,109,734 (-)NCBIHuRef
CHM1_11148,552,431 - 148,593,764 (-)NCBICHM1_1
Fmo5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39397,517,248 - 97,562,603 (+)NCBIGRCm39mm39
GRCm39 Ensembl397,536,120 - 97,562,598 (+)Ensembl
GRCm38397,609,938 - 97,655,287 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl397,628,804 - 97,655,282 (+)EnsemblGRCm38mm10GRCm38
MGSCv37397,432,727 - 97,459,210 (+)NCBIGRCm37mm9NCBIm37
MGSCv36397,714,280 - 97,737,956 (+)NCBImm8
Celera399,028,473 - 99,054,949 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
Fmo5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22185,197,184 - 185,249,699 (+)NCBI
Rnor_6.0 Ensembl2199,796,881 - 199,823,927 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02199,796,870 - 199,823,927 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02219,274,816 - 219,301,535 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42192,463,087 - 192,489,803 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12192,425,840 - 192,452,786 (+)NCBI
Celera2177,714,693 - 177,742,201 (+)NCBICelera
Cytogenetic Map2q34NCBI
Fmo5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555681,224,843 - 1,250,729 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555681,225,136 - 1,247,352 (+)NCBIChiLan1.0ChiLan1.0
FMO5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11112,881,859 - 112,921,194 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1112,881,859 - 112,921,194 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01122,605,677 - 122,648,325 (-)NCBIMhudiblu_PPA_v0panPan3
FMO5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11757,665,879 - 57,698,540 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1757,666,762 - 57,697,982 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1757,190,322 - 57,223,052 (-)NCBI
ROS_Cfam_1.01758,666,500 - 58,698,201 (-)NCBI
UMICH_Zoey_3.11757,558,263 - 57,590,623 (-)NCBI
UNSW_CanFamBas_1.01757,607,021 - 57,639,664 (-)NCBI
UU_Cfam_GSD_1.01758,332,782 - 58,372,446 (-)NCBI
FMO5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4100,336,980 - 100,374,370 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14100,336,769 - 100,372,744 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24110,166,395 - 110,202,322 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FMO5
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Fmo5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477216,132,648 - 16,155,717 (-)NCBI

Position Markers
G34829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,655,877 - 146,656,106UniSTSGRCh37
Build 361145,122,501 - 145,122,730RGDNCBI36
Celera1122,328,741 - 122,328,970RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,068,382 - 120,068,611UniSTS
SHGC-162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,657,923 - 146,658,150UniSTSGRCh37
Build 361145,124,547 - 145,124,774RGDNCBI36
Celera1122,326,697 - 122,326,924RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,070,428 - 120,070,655UniSTS
GeneMap99-G3 RH Map12345.0UniSTS
SHGC-146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,655,880 - 146,656,037UniSTSGRCh37
Build 361145,122,504 - 145,122,661RGDNCBI36
Celera1122,328,810 - 122,328,967RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,068,385 - 120,068,542UniSTS
RH80671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,672,233 - 146,672,477UniSTSGRCh37
Build 361145,138,857 - 145,139,101RGDNCBI36
Celera1122,312,373 - 122,312,617RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,084,736 - 120,084,980UniSTS
GeneMap99-GB4 RH Map1537.59UniSTS
AL033864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,676,255 - 146,676,405UniSTSGRCh37
Build 361145,142,879 - 145,143,029RGDNCBI36
Celera1122,308,444 - 122,308,594RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1120,088,759 - 120,088,909UniSTS
RH104159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,657,027 - 146,657,147UniSTSGRCh37
Build 361145,123,651 - 145,123,771RGDNCBI36
Celera1122,327,700 - 122,327,820RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,069,532 - 120,069,652UniSTS
GeneMap99-GB4 RH Map1540.36UniSTS
SHGC-85204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,661,472 - 146,661,815UniSTSGRCh37
Build 361145,128,096 - 145,128,439RGDNCBI36
Celera1122,323,032 - 122,323,375RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,073,977 - 120,074,320UniSTS
TNG Radiation Hybrid Map167996.0UniSTS
D1S3324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,658,116 - 146,658,450UniSTSGRCh37
Build 361145,124,740 - 145,125,074RGDNCBI36
Celera1122,326,397 - 122,326,731RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,070,621 - 120,070,955UniSTS
GeneMap99-GB4 RH Map1538.95UniSTS
Whitehead-RH Map1621.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map12345.0UniSTS
D5S2639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,428,678 - 30,428,812UniSTSGRCh37
GRCh371146,674,736 - 146,674,871UniSTSGRCh37
Build 361145,141,360 - 145,141,495RGDNCBI36
Celera2115,612,144 - 15,612,278UniSTS
Celera1122,309,978 - 122,310,113RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef2115,834,884 - 15,835,018UniSTS
HuRef1120,087,240 - 120,087,375UniSTS
GeneMap99-G3 RH Map21652.0UniSTS
SHGC-35897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,656,013 - 146,656,112UniSTSGRCh37
Build 361145,122,637 - 145,122,736RGDNCBI36
Celera1122,328,735 - 122,328,834RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,068,518 - 120,068,617UniSTS
GeneMap99-G3 RH Map12345.0UniSTS
WI-18060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,696,954 - 146,697,104UniSTSGRCh37
Build 361145,163,578 - 145,163,728RGDNCBI36
Celera1122,287,763 - 122,287,913RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,109,458 - 120,109,608UniSTS
GeneMap99-GB4 RH Map1540.36UniSTS
GeneMap99-GB4 RH Map1538.38UniSTS
Whitehead-RH Map1628.1UniSTS
SHGC-184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,655,884 - 146,656,042UniSTSGRCh37
Build 361145,122,508 - 145,122,666RGDNCBI36
Celera1122,328,805 - 122,328,963RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,068,389 - 120,068,547UniSTS
GeneMap99-G3 RH Map12345.0UniSTS
RH47920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,681,269 - 146,681,403UniSTSGRCh37
Build 361145,147,893 - 145,148,027RGDNCBI36
Celera1122,303,444 - 122,303,578RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,093,793 - 120,093,927UniSTS
GeneMap99-GB4 RH Map1536.8UniSTS
AL009757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,676,453 - 146,676,584UniSTSGRCh37
Build 361145,143,077 - 145,143,208RGDNCBI36
Celera1122,308,265 - 122,308,396RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,088,957 - 120,089,088UniSTS
FMO5_314.3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,657,735 - 146,658,587UniSTSGRCh37
Build 361145,124,359 - 145,125,211RGDNCBI36
Celera1122,326,260 - 122,327,112RGD
HuRef1120,070,240 - 120,071,092UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1665
Count of miRNA genes:874
Interacting mature miRNAs:1029
Transcripts:ENST00000254090, ENST00000369272, ENST00000441068, ENST00000465173, ENST00000478432, ENST00000527849, ENST00000533174, ENST00000533848
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 519 2 449 498 130 401 361 2 45 60 41 268 98 9 208
Low 1866 2249 1258 119 1205 58 3382 1384 3421 329 1362 1274 71 1 1189 2030 3 2
Below cutoff 53 735 18 7 611 6 613 808 261 30 51 66 5 6 550 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC241584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC242426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY902236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA354058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB230162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L37080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z47553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254090   ⟹   ENSP00000254090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,186,261 - 147,225,339 (-)Ensembl
RefSeq Acc Id: ENST00000369272   ⟹   ENSP00000358277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,186,261 - 147,225,309 (-)Ensembl
RefSeq Acc Id: ENST00000441068   ⟹   ENSP00000416011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,184,305 - 147,225,353 (-)Ensembl
RefSeq Acc Id: ENST00000478432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,214,782 - 147,225,339 (-)Ensembl
RefSeq Acc Id: ENST00000527849   ⟹   ENSP00000433742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,175,351 - 147,243,050 (-)Ensembl
RefSeq Acc Id: ENST00000533174   ⟹   ENSP00000436429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,212,447 - 147,225,631 (-)Ensembl
RefSeq Acc Id: ENST00000533848   ⟹   ENSP00000432569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,213,359 - 147,225,873 (-)Ensembl
RefSeq Acc Id: ENST00000578284   ⟹   ENSP00000462062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,184,492 - 147,225,638 (-)Ensembl
RefSeq Acc Id: ENST00000619062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1147,208,439 - 147,225,628 (-)Ensembl
RefSeq Acc Id: NM_001144829   ⟹   NP_001138301
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,184,305 - 147,225,339 (-)NCBI
GRCh371146,655,884 - 146,697,390 (-)NCBI
HuRef1120,068,389 - 120,109,734 (-)ENTREZGENE
CHM1_11148,552,431 - 148,593,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001144830   ⟹   NP_001138302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,186,261 - 147,225,339 (-)NCBI
GRCh371146,655,884 - 146,697,390 (-)NCBI
HuRef1120,068,389 - 120,109,734 (-)ENTREZGENE
CHM1_11148,554,387 - 148,593,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001461   ⟹   NP_001452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,186,261 - 147,225,339 (-)NCBI
GRCh371146,655,884 - 146,697,390 (-)NCBI
Build 361145,124,462 - 145,163,546 (-)NCBI Archive
HuRef1120,068,389 - 120,109,734 (-)ENTREZGENE
CHM1_11148,554,387 - 148,593,764 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272946   ⟹   XP_005273003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,184,305 - 147,225,617 (-)NCBI
GRCh371146,655,884 - 146,697,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272947   ⟹   XP_005273004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,184,305 - 147,225,798 (-)NCBI
GRCh371146,655,884 - 146,697,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272948   ⟹   XP_005273005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,184,305 - 147,225,626 (-)NCBI
GRCh371146,655,884 - 146,697,390 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711244   ⟹   XP_006711307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,202,184 - 147,225,616 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711245   ⟹   XP_006711308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,183,963 - 147,225,616 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509350   ⟹   XP_011507652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,184,305 - 147,225,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509351   ⟹   XP_011507653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,186,261 - 147,225,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000801   ⟹   XP_016856290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,186,261 - 147,225,566 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000802   ⟹   XP_016856291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,186,261 - 147,225,788 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001138301 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001452 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273003 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273004 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273005 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711307 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711308 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507652 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507653 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856290 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856291 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA67849 (Get FASTA)   NCBI Sequence Viewer  
  AAH35687 (Get FASTA)   NCBI Sequence Viewer  
  AAW69390 (Get FASTA)   NCBI Sequence Viewer  
  BAB13975 (Get FASTA)   NCBI Sequence Viewer  
  BAD96448 (Get FASTA)   NCBI Sequence Viewer  
  BAG37208 (Get FASTA)   NCBI Sequence Viewer  
  CAA87633 (Get FASTA)   NCBI Sequence Viewer  
  CAH72648 (Get FASTA)   NCBI Sequence Viewer  
  CAH72649 (Get FASTA)   NCBI Sequence Viewer  
  EAW50939 (Get FASTA)   NCBI Sequence Viewer  
  EAW50940 (Get FASTA)   NCBI Sequence Viewer  
  EAW50941 (Get FASTA)   NCBI Sequence Viewer  
  EAW50942 (Get FASTA)   NCBI Sequence Viewer  
  EAW50943 (Get FASTA)   NCBI Sequence Viewer  
  P49326 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001138301   ⟸   NM_001144829
- Peptide Label: isoform 2
- UniProtKB: P49326 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001452   ⟸   NM_001461
- Peptide Label: isoform 1
- UniProtKB: P49326 (UniProtKB/Swiss-Prot),   A0A024QYY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138302   ⟸   NM_001144830
- Peptide Label: isoform 3
- UniProtKB: P49326 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273004   ⟸   XM_005272947
- Peptide Label: isoform X1
- UniProtKB: P49326 (UniProtKB/Swiss-Prot),   A0A024QYY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273005   ⟸   XM_005272948
- Peptide Label: isoform X1
- UniProtKB: P49326 (UniProtKB/Swiss-Prot),   A0A024QYY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273003   ⟸   XM_005272946
- Peptide Label: isoform X1
- UniProtKB: P49326 (UniProtKB/Swiss-Prot),   A0A024QYY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711308   ⟸   XM_006711245
- Peptide Label: isoform X4
- UniProtKB: P49326 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711307   ⟸   XM_006711244
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011507652   ⟸   XM_011509350
- Peptide Label: isoform X1
- UniProtKB: P49326 (UniProtKB/Swiss-Prot),   A0A024QYY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507653   ⟸   XM_011509351
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016856291   ⟸   XM_017000802
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016856290   ⟸   XM_017000801
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000254090   ⟸   ENST00000254090
RefSeq Acc Id: ENSP00000436429   ⟸   ENST00000533174
RefSeq Acc Id: ENSP00000432569   ⟸   ENST00000533848
RefSeq Acc Id: ENSP00000416011   ⟸   ENST00000441068
RefSeq Acc Id: ENSP00000462062   ⟸   ENST00000578284
RefSeq Acc Id: ENSP00000358277   ⟸   ENST00000369272
RefSeq Acc Id: ENSP00000433742   ⟸   ENST00000527849

Promoters
RGD ID:6785601
Promoter ID:HG_KWN:4684
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369274,   NM_001144829,   NM_001144830,   NM_001461,   OTTHUMT00000040374,   OTTHUMT00000040375
Position:
Human AssemblyChrPosition (strand)Source
Build 361145,163,389 - 145,163,889 (-)MPROMDB
RGD ID:6856870
Promoter ID:EPDNEW_H1600
Type:initiation region
Name:FMO5_1
Description:flavin containing monooxygenase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1601  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,225,339 - 147,225,399EPDNEW
RGD ID:6856872
Promoter ID:EPDNEW_H1601
Type:initiation region
Name:FMO5_2
Description:flavin containing monooxygenase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1600  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,225,580 - 147,225,640EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001461.4(FMO5):c.1183+7G>A single nucleotide variant not provided [RCV000936433] Chr1:147201145 [GRCh38]
Chr1:146672727 [GRCh37]
Chr1:1q21.1
likely benign
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Optic atrophy [RCV000626498] Chr1:146618988..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148359881)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|See cases [RCV000050346] Chr1:147035964..148359881 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3 copy number gain See cases [RCV000050917] Chr1:146987841..148234205 [GRCh38]
Chr1:145987156..147411593 [GRCh37]
Chr1:144698513..145878217 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000050515] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x1 copy number loss Global developmental delay [RCV000050689]|See cases [RCV000050689] Chr1:145232830..148587578 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000050634] Chr1:146354110..148503773 [GRCh38]
Chr1:146143189..149699420 [GRCh37]
Chr1:144854546..147966044 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000051058] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x1 copy number loss Nonsyndromic microcephaly [RCV000051059]|Expressive language delay [RCV000051060]|Global developmental delay [RCV000051061]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|See cases [RCV000051059] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052252] Chr1:146987841..148437125 [GRCh38]
Chr1:145986956..147909235 [GRCh37]
Chr1:144698313..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1 copy number loss See cases [RCV000052262] Chr1:146987841..148436925 [GRCh38]
Chr1:145987156..147909035 [GRCh37]
Chr1:144698513..146375659 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052264] Chr1:146987841..148328747 [GRCh38]
Chr1:146079197..147800872 [GRCh37]
Chr1:144790554..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052267] Chr1:146987841..148328747 [GRCh38]
Chr1:146083024..147800872 [GRCh37]
Chr1:144794381..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1 copy number loss See cases [RCV000052269] Chr1:146987841..148444397 [GRCh38]
Chr1:146096433..147916499 [GRCh37]
Chr1:144807790..146383123 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052271] Chr1:146987841..148234205 [GRCh38]
Chr1:146096433..147400685 [GRCh37]
Chr1:144807790..145867309 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052272] Chr1:146987841..148328747 [GRCh38]
Chr1:146096433..147800872 [GRCh37]
Chr1:144807790..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x3 copy number gain See cases [RCV000052276] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052277] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000052282] Chr1:146987841..148359881 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052283] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|See cases [RCV000052245] Chr1:146987841..148437125 [GRCh38]
Chr1:145655792..147909235 [GRCh37]
Chr1:144367149..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052247] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148167468)x1 copy number loss See cases [RCV000052299] Chr1:147029419..148167468 [GRCh38]
Chr1:146500972..147711813 [GRCh37]
Chr1:144967596..146178437 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148342687)x1 copy number loss See cases [RCV000052303] Chr1:147029419..148342687 [GRCh38]
Chr1:146500972..147814815 [GRCh37]
Chr1:144967596..146281439 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000052306] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3 copy number gain See cases [RCV000053186] Chr1:146987841..148492647 [GRCh38]
Chr1:145764367..147988684 [GRCh37]
Chr1:144475724..146455308 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3 copy number gain See cases [RCV000053192] Chr1:146987841..148287692 [GRCh38]
Chr1:146083023..147759798 [GRCh37]
Chr1:144794380..146226422 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3 copy number gain See cases [RCV000053193] Chr1:146987841..148444397 [GRCh38]
Chr1:146083024..147916499 [GRCh37]
Chr1:144794381..146383123 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147055789-148328747)x3 copy number gain See cases [RCV000053204] Chr1:147055789..148328747 [GRCh38]
Chr1:146527351..147800872 [GRCh37]
Chr1:144993975..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148273480)x3 copy number gain See cases [RCV000053205] Chr1:147099720..148273480 [GRCh38]
Chr1:146571304..147745610 [GRCh37]
Chr1:145037928..146212234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000053206] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000053743] Chr1:146987841..148437125 [GRCh38]
Chr1:145425195..147909235 [GRCh37]
Chr1:144136552..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1 copy number loss See cases [RCV000053725] Chr1:146987841..149343657 [GRCh38]
Chr1:144912271..147814815 [GRCh37]
Chr1:143623628..146281439 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 copy number loss See cases [RCV000053882] Chr1:144810725..146858488 [GRCh37]
Chr1:143456705..145325112 [NCBI36]
Chr1:1q21.1
pathogenic
NM_001144829.2(FMO5):c.830+12G>A single nucleotide variant Malignant melanoma [RCV000064119] Chr1:147208840 [GRCh38]
Chr1:146680402 [GRCh37]
Chr1:145147026 [NCBI36]
Chr1:1q21.1
not provided
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000051059] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x1 copy number loss See cases [RCV000133790] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x3 copy number gain See cases [RCV000050346] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052242] Chr1:146987841..148234205 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000134191] Chr1:146354110..148503773 [GRCh38]
Chr1:145388355..149418924 [GRCh37]
Chr1:144099712..147685548 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000134219] Chr1:146964168..148572213 [GRCh38]
Chr1:146038914..147838700 [GRCh37]
Chr1:144750271..146305324 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148352079)x3 copy number gain See cases [RCV000133957] Chr1:147035964..148352079 [GRCh38]
Chr1:146507518..147824207 [GRCh37]
Chr1:144974142..146290831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3 copy number gain See cases [RCV000134089] Chr1:146987841..148415560 [GRCh38]
Chr1:145899359..147887713 [GRCh37]
Chr1:144610716..146354337 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3 copy number gain See cases [RCV000135345] Chr1:146355224..148494171 [GRCh38]
Chr1:145899339..148782879 [GRCh37]
Chr1:144610696..147049503 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3 copy number gain See cases [RCV000135684] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4 copy number gain See cases [RCV000135513] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000135484] Chr1:146964168..148572213 [GRCh38]
Chr1:146074031..147834140 [GRCh37]
Chr1:144785388..146300764 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3 copy number gain See cases [RCV000136532] Chr1:146355224..148503773 [GRCh38]
Chr1:145425395..149768855 [GRCh37]
Chr1:144136752..148035479 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137526] Chr1:146987841..148355961 [GRCh38]
Chr1:145655992..147828089 [GRCh37]
Chr1:144367349..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137600] Chr1:146987841..148355961 [GRCh38]
Chr1:145804679..147828089 [GRCh37]
Chr1:144516036..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137231] Chr1:146987841..148234205 [GRCh38]
Chr1:146143189..147721869 [GRCh37]
Chr1:144854546..146188493 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138054] Chr1:146987841..148355961 [GRCh38]
Chr1:146053414..147828089 [GRCh37]
Chr1:144764771..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3 copy number gain See cases [RCV000137889] Chr1:147029419..148352079 [GRCh38]
Chr1:146500972..147824207 [GRCh37]
Chr1:144967596..146290831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1 copy number loss See cases [RCV000137764] Chr1:147002657..148355961 [GRCh38]
Chr1:146474216..147828089 [GRCh37]
Chr1:144940840..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147071299-148355961)x1 copy number loss See cases [RCV000137947] Chr1:147071299..148355961 [GRCh38]
Chr1:146542843..147828089 [GRCh37]
Chr1:145009467..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138893] Chr1:146987841..148355961 [GRCh38]
Chr1:145723321..147828089 [GRCh37]
Chr1:144434678..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1 copy number loss See cases [RCV000138709] Chr1:146354110..148494217 [GRCh38]
Chr1:145626237..149453964 [GRCh37]
Chr1:144337594..147720588 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3 copy number gain See cases [RCV000138851] Chr1:147036093..148352084 [GRCh38]
Chr1:146507649..147824212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147156522-148352084)x3 copy number gain See cases [RCV000138854] Chr1:147156522..148352084 [GRCh38]
Chr1:146628101..147824212 [GRCh37]
Chr1:145094725..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1 copy number loss See cases [RCV000138516] Chr1:146987841..148352084 [GRCh38]
Chr1:145415156..147824212 [GRCh37]
Chr1:144126513..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3 copy number gain See cases [RCV000138637] Chr1:146987841..148352084 [GRCh38]
Chr1:145799556..147824212 [GRCh37]
Chr1:144510913..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147036155-147945622)x1 copy number loss See cases [RCV000139330] Chr1:147036155..147945622 [GRCh38]
Chr1:146507711..147417736 [GRCh37]
Chr1:144974335..145884360 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000139942] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147830830 [GRCh37]
Chr1:144816527..146297454 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145751815-148000664)x3 copy number gain See cases [RCV000140155] Chr1:145751815..148000664 [GRCh37]
Chr1:144463172..146467288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141344] Chr1:146964168..148572213 [GRCh38]
Chr1:146053414..147860552 [GRCh37]
Chr1:144764771..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000140902] Chr1:146964168..148572213 [GRCh38]
Chr1:145932455..147385641 [GRCh37]
Chr1:144643812..145852265 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000141896] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147830830 [GRCh37]
Chr1:144813147..146297454 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141980] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147844758 [GRCh37]
Chr1:144755070..146311382 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 copy number loss See cases [RCV000141747] Chr1:146105170..148016122 [GRCh37]
Chr1:144816527..146482746 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145888925-148020200)x1 copy number loss See cases [RCV000141688] Chr1:145888925..148020200 [GRCh37]
Chr1:144600282..146486824 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-147909352)x1 copy number loss See cases [RCV000142425] Chr1:147036093..147909352 [GRCh38]
Chr1:146507649..147381479 [GRCh37]
Chr1:144974273..145848103 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3 copy number gain See cases [RCV000142509] Chr1:146354110..148503773 [GRCh38]
Chr1:145425395..149699420 [GRCh37]
Chr1:144136752..147966044 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000142212] Chr1:146964168..148572213 [GRCh38]
Chr1:146096701..147832190 [GRCh37]
Chr1:144808058..146298814 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000142030] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147897962 [GRCh37]
Chr1:144813147..146364586 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142100] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147830830 [GRCh37]
Chr1:144969915..146297454 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3 copy number gain See cases [RCV000142102] Chr1:147016574..149087283 [GRCh38]
Chr1:146488131..147995251 [GRCh37]
Chr1:144954755..146461875 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142150] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819294 [GRCh37]
Chr1:144969915..146285918 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147054748-148355961)x3 copy number gain See cases [RCV000142921] Chr1:147054748..148355961 [GRCh38]
Chr1:146526310..147828089 [GRCh37]
Chr1:144992934..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1 copy number loss See cases [RCV000142561] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000142798] Chr1:146987841..148355961 [GRCh38]
Chr1:145626237..147828089 [GRCh37]
Chr1:144337594..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3 copy number gain See cases [RCV000143372] Chr1:147026741..149087283 [GRCh38]
Chr1:146498298..147828510 [GRCh37]
Chr1:144964922..146295134 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143304] Chr1:146964168..148572213 [GRCh38]
Chr1:146145424..147929323 [GRCh37]
Chr1:144856781..146395947 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143128] Chr1:146964168..148572213 [GRCh38]
Chr1:145886339..147926347 [GRCh37]
Chr1:144597696..146392971 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000148082] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000143769] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819815 [GRCh37]
Chr1:144969915..146286439 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148050] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148051]|See cases [RCV000509064] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148054] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143745] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147929323 [GRCh37]
Chr1:144816527..146395947 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148055] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148057] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4 copy number gain See cases [RCV000143488] Chr1:146999330..149087283 [GRCh38]
Chr1:146470888..147830903 [GRCh37]
Chr1:144937512..146297527 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143533] Chr1:146964168..148572213 [GRCh38]
Chr1:145895747..147831170 [GRCh37]
Chr1:144607104..146297794 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143646] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147830830 [GRCh37]
Chr1:144755070..146297454 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3 copy number gain See cases [RCV000143585] Chr1:145885646..147978640 [GRCh37]
Chr1:144597003..146445264 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143509] Chr1:146964168..148572213 [GRCh38]
Chr1:145932454..147819294 [GRCh37]
Chr1:144643811..146285918 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143612] Chr1:146964168..148572213 [GRCh38]
Chr1:145888925..147926347 [GRCh37]
Chr1:144600282..146392971 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137606] Chr1:146987841..148234205 [GRCh38]
Chr1:145415190..146474275 [GRCh37]
Chr1:144126547..144940899 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000148155] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148176] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000053734] Chr1:146987841..148234205 [GRCh38]
Chr1:145310254..146491118 [GRCh37]
Chr1:144021611..144957742 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147380935)x1 copy number loss See cases [RCV000239836] Chr1:146535353..147380935 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147844809)x1 copy number loss See cases [RCV000239831] Chr1:146535353..147844809 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867793)x3 copy number gain See cases [RCV000239811] Chr1:146535353..147867793 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877206)x3 copy number gain See cases [RCV000240235] Chr1:146535353..147877206 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147048600)x3 copy number gain See cases [RCV000449054] Chr1:146496425..147048600 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225476] Chr1:146499479..147830375 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225655] Chr1:146089254..148004783 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147824207)x1 copy number loss See cases [RCV000239854] Chr1:146535353..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 copy number loss See cases [RCV000239847] Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857135)x1 copy number loss See cases [RCV000240361] Chr1:146535353..147857135 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3 copy number gain not provided [RCV000488100] Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767546] Chr1:145765424..147142037 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122) copy number loss 1q21.1 recurrent microdeletion [RCV000767693] Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767545] Chr1:145103956..147220326 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele deletion 1q21.1 recurrent microdeletion [RCV000414986] Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x3 copy number gain See cases [RCV000449268] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 copy number loss See cases [RCV000449106] Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147819294)x3 copy number gain See cases [RCV000446349] Chr1:146096700..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147819294)x3 copy number gain See cases [RCV000446850] Chr1:146043713..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145886339-147897962)x1 copy number loss See cases [RCV000447310] Chr1:145886339..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147900955)x3 copy number gain See cases [RCV000446607] Chr1:146535353..147900955 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 copy number loss See cases [RCV000446851] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867734)x3 copy number gain See cases [RCV000447215] Chr1:146535353..147867734 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 copy number loss See cases [RCV000446501] Chr1:146105170..148016122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857078)x1 copy number loss See cases [RCV000446048] Chr1:146535353..147857078 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146016526-147830830)x3 copy number gain See cases [RCV000447628] Chr1:146016526..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885645-147947839)x1 copy number loss See cases [RCV000446765] Chr1:145885645..147947839 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147929323)x3 copy number gain See cases [RCV000447186] Chr1:146496425..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877162)x3 copy number gain See cases [RCV000447634] Chr1:146535353..147877162 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146488131-147052016)x3 copy number gain See cases [RCV000447524] Chr1:146488131..147052016 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147856007)x1 copy number loss See cases [RCV000445872] Chr1:145895746..147856007 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss See cases [RCV000445777] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498198-147926347)x3 copy number gain See cases [RCV000448794] Chr1:146498198..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146127815-147844758)x1 copy number loss See cases [RCV000448648] Chr1:146127815..147844758 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147441040)x3 copy number gain See cases [RCV000448731] Chr1:146507518..147441040 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000448739] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147830830)x1 copy number loss See cases [RCV000448963] Chr1:146101790..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146106723-147830830)x3 copy number gain See cases [RCV000448239] Chr1:146106723..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147844758)x3 copy number gain See cases [RCV000512098] Chr1:145885646..147844758 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147830830)x3 copy number gain See cases [RCV000512072] Chr1:146096700..147830830 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096701-147898062)x1 copy number loss See cases [RCV000510373] Chr1:146096701..147898062 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496382-147409820)x3 copy number gain See cases [RCV000510399] Chr1:146496382..147409820 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148513854)x1 copy number loss See cases [RCV000510528] Chr1:146105170..148513854 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1 copy number loss not provided [RCV000509202] Chr1:146347096..147824207 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1 copy number loss not provided [RCV000509261] Chr1:146507518..147824207 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147929323)x1 copy number loss See cases [RCV000510416] Chr1:146043713..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147929323)x3 copy number gain See cases [RCV000510318] Chr1:145808308..147929323 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3 copy number gain See cases [RCV000510580] Chr1:145885646..147947839 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 copy number loss See cases [RCV000511960] Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496381-147819294)x3 copy number gain See cases [RCV000511887] Chr1:146496381..147819294 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3 copy number gain See cases [RCV000511678] Chr1:145895746..148893164 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000511760] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-148020200)x1 copy number loss See cases [RCV000511019] Chr1:146101790..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147819294)x3 copy number gain See cases [RCV000511122] Chr1:146498298..147819294 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147814497)x3 copy number gain See cases [RCV000510814] Chr1:146496425..147814497 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4 copy number gain See cases [RCV000511031] Chr1:145927662..147830830 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3 copy number gain See cases [RCV000510735] Chr1:146003044..147832190 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146023923-147929323)x1 copy number loss See cases [RCV000510977] Chr1:146023923..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147830903)x3 copy number gain See cases [RCV000510918] Chr1:146470888..147830903 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678) copy number loss 1q21.1 recurrent microdeletion [RCV000767660] Chr1:146618988..147825678 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146488131-147398560)x3 copy number gain See cases [RCV000512214] Chr1:146488131..147398560 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3 copy number gain See cases [RCV000512287] Chr1:145895746..147995251 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147926347)x3 copy number gain See cases [RCV000512412] Chr1:145808308..147926347 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148020200)x1 copy number loss See cases [RCV000512350] Chr1:146105170..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1 copy number loss not provided [RCV000684633] Chr1:145733443..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1 copy number loss not provided [RCV000684634] Chr1:145764393..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1 copy number loss not provided [RCV000684635] Chr1:145769108..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1 copy number loss not provided [RCV000684636] Chr1:145770625..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1 copy number loss not provided [RCV000684637] Chr1:145770679..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1 copy number loss not provided [RCV000684638] Chr1:145770679..148519140 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1 copy number loss not provided [RCV000684639] Chr1:145784611..148519963 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1 copy number loss not provided [RCV000684640] Chr1:145786289..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1 copy number loss not provided [RCV000684641] Chr1:145786360..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1 copy number loss not provided [RCV000684642] Chr1:145792037..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1 copy number loss not provided [RCV000684643] Chr1:145792051..148846369 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss not provided [RCV000684644] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1 copy number loss not provided [RCV000684645] Chr1:145895746..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1 copy number loss not provided [RCV000684646] Chr1:146030328..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1 copy number loss not provided [RCV000684647] Chr1:146043713..147898062 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146117290-147897962)x1 copy number loss not provided [RCV000684648] Chr1:146117290..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147830830)x1 copy number loss not provided [RCV000684649] Chr1:146145424..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147845170)x1 copy number loss not provided [RCV000684650] Chr1:146470887..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-148020200)x1 copy number loss not provided [RCV000684651] Chr1:146470887..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146483912-147828510)x1 copy number loss not provided [RCV000684652] Chr1:146483912..147828510 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146505911-147829213)x1 copy number loss not provided [RCV000684653] Chr1:146505911..147829213 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146087074-148209414)x3 copy number gain not provided [RCV000736678] Chr1:146087074..148209414 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146087074-148250606)x3 copy number gain not provided [RCV000736679] Chr1:146087074..148250606 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146089254-147391614)x1 copy number loss not provided [RCV000736680] Chr1:146089254..147391614 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146089254-147911246)x1 copy number loss not provided [RCV000736681] Chr1:146089254..147911246 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x3 copy number gain not provided [RCV000736682] Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x1 copy number loss not provided [RCV000736683] Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146089268-149376652)x1 copy number loss not provided [RCV000736684] Chr1:146089268..149376652 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147393410)x1 copy number loss not provided [RCV000736685] Chr1:146501348..147393410 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147826789)x3 copy number gain not provided [RCV000736686] Chr1:146501348..147826789 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147843733)x1 copy number loss not provided [RCV000749171] Chr1:146501348..147843733 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506206-147531377)x3 copy number gain not provided [RCV000749172] Chr1:146506206..147531377 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146506206-147928995)x3 copy number gain not provided [RCV000749173] Chr1:146506206..147928995 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1 copy number loss 1q21.1 recurrent microdeletion [RCV000856631] Chr1:146521698..147721869 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_001461.4(FMO5):c.496A>G (p.Lys166Glu) single nucleotide variant not provided [RCV000967806] Chr1:147212527 [GRCh38]
Chr1:146684095 [GRCh37]
Chr1:1q21.1
benign
NM_001461.4(FMO5):c.999C>T (p.Ser333=) single nucleotide variant not provided [RCV000964820] Chr1:147201336 [GRCh38]
Chr1:146672918 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000856632] Chr1:145804679..147735815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767826] Chr1:145740598..147825678 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:146470887-146821326)x3 copy number gain not provided [RCV000848543] Chr1:146470887..146821326 [GRCh37]
Chr1:1q21.1
uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787409] Chr1:146474245..147858400 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
Single allele deletion 1q21.1 recurrent microdeletion [RCV000844901] Chr1:145723417..147897962 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:146488117-146821326)x3 copy number gain not provided [RCV000847107] Chr1:146488117..146821326 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_001461.4(FMO5):c.1172A>G (p.Gln391Arg) single nucleotide variant not provided [RCV000963061] Chr1:147201163 [GRCh38]
Chr1:146672745 [GRCh37]
Chr1:1q21.1
benign
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147825548)x3 copy number gain See cases [RCV001007413] Chr1:146501348..147825548 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147819815)x3 copy number gain not provided [RCV001260120] Chr1:146112080..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147399145)x3 copy number gain not provided [RCV001260121] Chr1:146112080..147399145 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146500972-147851297) copy number loss Aicardi's syndrome [RCV001291972] Chr1:146500972..147851297 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207) copy number loss Delayed speech and language development [RCV001291984] Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147401392)x3 copy number gain not provided [RCV001260119] Chr1:146498298..147401392 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147819815)x3 copy number gain not provided [RCV001260122] Chr1:146496425..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147929323)x1 copy number loss not provided [RCV001260123] Chr1:146096700..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3 copy number gain See cases [RCV001264401] Chr1:146500000..149500001 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207) copy number gain Rokitansky Kuster Hauser syndrome [RCV001291962] Chr1:145818702..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266) copy number gain Delayed speech and language development [RCV001291985] Chr1:145818702..149378266 [GRCh37]
Chr1:1q21.1-21.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3773 AgrOrtholog
COSMIC FMO5 COSMIC
Ensembl Genes ENSG00000131781 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000254090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358277 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416011 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432569 UniProtKB/TrEMBL
  ENSP00000433742 UniProtKB/TrEMBL
  ENSP00000436429 UniProtKB/TrEMBL
  ENSP00000462062 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441068 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527849 UniProtKB/TrEMBL
  ENST00000533174 UniProtKB/TrEMBL
  ENST00000533848 UniProtKB/TrEMBL
  ENST00000578284 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131781 GTEx
HGNC ID HGNC:3773 ENTREZGENE
Human Proteome Map FMO5 Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavin_mOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavin_mOase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavin_mOase_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2330 ENTREZGENE
OMIM 603957 OMIM
Pfam FMO-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28189 PharmGKB
PIRSF FMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS FMOXYGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMOXYGENASE5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QYY6 ENTREZGENE, UniProtKB/TrEMBL
  E9PJF3_HUMAN UniProtKB/TrEMBL
  E9PP51_HUMAN UniProtKB/TrEMBL
  E9PQ84_HUMAN UniProtKB/TrEMBL
  FMO5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9HA79_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RBG1 UniProtKB/Swiss-Prot
  C9JJD1 UniProtKB/Swiss-Prot
  Q8IV22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-30 FMO5  flavin containing dimethylaniline monoxygenase 5  FMO5  flavin containing monooxygenase 5  Symbol and/or name change 5135510 APPROVED