FBLN1 (fibulin 1) - Rat Genome Database

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Gene: FBLN1 (fibulin 1) Homo sapiens
Analyze
Symbol: FBLN1
Name: fibulin 1
RGD ID: 1318572
HGNC Page HGNC:3600
Description: Enables several functions, including fibrinogen binding activity; fibronectin binding activity; and integrin binding activity. An extracellular matrix structural constituent. Involved in several processes, including negative regulation of ERK1 and ERK2 cascade; regulation of cell-substrate adhesion; and regulation of macromolecule metabolic process. Located in elastic fiber and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FBLN; FIBL1; fibulin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382245,502,883 - 45,601,135 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2245,502,238 - 45,601,135 (+)EnsemblGRCh38hg38GRCh38
GRCh372245,898,763 - 45,997,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,277,383 - 44,375,678 (+)NCBINCBI36Build 36hg18NCBI36
Build 342244,219,255 - 44,275,128NCBI
Celera2229,809,689 - 29,909,644 (+)NCBICelera
Cytogenetic Map22q13.31NCBI
HuRef2228,859,953 - 28,942,412 (+)NCBIHuRef
CHM1_12245,857,451 - 45,955,744 (+)NCBICHM1_1
T2T-CHM13v2.02245,987,730 - 46,085,865 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-phenylbutyric acid  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amphotericin B  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
cadmium acetate  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chlormequat chloride  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
Cuprizon  (ISO)
cytarabine  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
glycidyl methacrylate  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mifepristone  (EXP)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentane-2,3-dione  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
potassium dichromate  (EXP,ISO)
prednisolone  (EXP)
progesterone  (EXP)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (EXP)
Soman  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Age-related changes of cardiac gene expression following myocardial ischemia/reperfusion. Simkhovich BZ, etal., Arch Biochem Biophys. 2003 Dec 15;420(2):268-78.
Additional References at PubMed
PMID:1400330   PMID:2269669   PMID:2527614   PMID:7500359   PMID:7534784   PMID:7642629   PMID:7806231   PMID:7842734   PMID:8175920   PMID:8354280   PMID:8552629   PMID:8737292  
PMID:8839849   PMID:8889548   PMID:9106159   PMID:9278415   PMID:9299350   PMID:9393974   PMID:9466671   PMID:9811350   PMID:9927660   PMID:10037144   PMID:10318851   PMID:10400671  
PMID:10544250   PMID:10591208   PMID:11238726   PMID:11792823   PMID:11829738   PMID:11836357   PMID:11846885   PMID:11850827   PMID:12122015   PMID:12200142   PMID:12477932   PMID:12644824  
PMID:12912698   PMID:14635206   PMID:14691454   PMID:14702039   PMID:14718574   PMID:15231748   PMID:15489334   PMID:15498874   PMID:15528301   PMID:15774544   PMID:15990087   PMID:16061471  
PMID:16169070   PMID:16303743   PMID:16713569   PMID:17062666   PMID:17353931   PMID:18029348   PMID:18222970   PMID:18985039   PMID:19109427   PMID:19609566   PMID:19693531   PMID:20098615  
PMID:20360068   PMID:20379614   PMID:20405022   PMID:20451270   PMID:20551380   PMID:20716560   PMID:20967215   PMID:21078624   PMID:21268132   PMID:21653829   PMID:21888404   PMID:21926180  
PMID:21988832   PMID:22349089   PMID:22365631   PMID:22528093   PMID:23294625   PMID:23376485   PMID:23391467   PMID:23533145   PMID:23866070   PMID:23907575   PMID:24084572   PMID:24739800  
PMID:25014213   PMID:25037231   PMID:25234557   PMID:25331251   PMID:25456503   PMID:25464930   PMID:25661773   PMID:25834989   PMID:26186194   PMID:26631026   PMID:26687681   PMID:26779638  
PMID:26826315   PMID:27068509   PMID:27402846   PMID:27422995   PMID:27911324   PMID:28068900   PMID:28079882   PMID:28282800   PMID:28327460   PMID:28333958   PMID:28445604   PMID:28514442  
PMID:28675934   PMID:29117863   PMID:29150431   PMID:29226648   PMID:29568061   PMID:29715435   PMID:29791485   PMID:29867203   PMID:29872149   PMID:29940241   PMID:30026490   PMID:31343988  
PMID:31376183   PMID:31663514   PMID:32296183   PMID:32814053   PMID:33106982   PMID:33470885   PMID:33610427   PMID:33961781   PMID:34238097   PMID:35127942   PMID:35153187   PMID:35271311  
PMID:35563538   PMID:35696571   PMID:36369321   PMID:36949045   PMID:37059927   PMID:38113892   PMID:38353178   PMID:39238192  


Genomics

Comparative Map Data
FBLN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382245,502,883 - 45,601,135 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2245,502,238 - 45,601,135 (+)EnsemblGRCh38hg38GRCh38
GRCh372245,898,763 - 45,997,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,277,383 - 44,375,678 (+)NCBINCBI36Build 36hg18NCBI36
Build 342244,219,255 - 44,275,128NCBI
Celera2229,809,689 - 29,909,644 (+)NCBICelera
Cytogenetic Map22q13.31NCBI
HuRef2228,859,953 - 28,942,412 (+)NCBIHuRef
CHM1_12245,857,451 - 45,955,744 (+)NCBICHM1_1
T2T-CHM13v2.02245,987,730 - 46,085,865 (+)NCBIT2T-CHM13v2.0
Fbln1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,090,150 - 85,170,495 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1585,090,150 - 85,170,736 (+)EnsemblGRCm39 Ensembl
GRCm381585,205,949 - 85,286,294 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,205,949 - 85,286,535 (+)EnsemblGRCm38mm10GRCm38
MGSCv371585,036,438 - 85,116,724 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361585,033,777 - 85,113,422 (+)NCBIMGSCv36mm8
Celera1587,331,933 - 87,412,210 (+)NCBICelera
Cytogenetic Map15E2NCBI
cM Map1540.27NCBI
Fbln1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87118,190,347 - 118,269,965 (+)NCBIGRCr8
mRatBN7.27116,310,582 - 116,390,075 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7116,310,582 - 116,390,075 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7118,061,437 - 118,140,654 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07120,287,178 - 120,366,397 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07120,256,616 - 120,335,836 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07126,096,793 - 126,176,468 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,096,793 - 126,176,468 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07125,810,696 - 125,890,371 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,208,154 - 123,287,289 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17123,242,385 - 123,321,516 (+)NCBI
Celera7112,608,514 - 112,687,953 (+)NCBICelera
Cytogenetic Map7q34NCBI
Fbln1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541329,837,134 - 29,912,222 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541329,837,134 - 29,911,313 (+)NCBIChiLan1.0ChiLan1.0
FBLN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22355,327,942 - 55,426,786 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12258,026,827 - 58,125,277 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02226,390,379 - 26,488,737 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12244,583,632 - 44,666,696 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2244,582,843 - 44,666,011 (+)Ensemblpanpan1.1panPan2
FBLN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11020,498,097 - 20,564,776 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1020,498,567 - 20,627,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1020,418,944 - 20,535,831 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01021,232,145 - 21,315,719 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1021,232,148 - 21,315,848 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11020,951,205 - 21,068,293 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01021,264,132 - 21,382,166 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01021,444,929 - 21,562,250 (-)NCBIUU_Cfam_GSD_1.0
Fbln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049454,170,186 - 4,231,513 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366294,170,817 - 4,242,103 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366294,170,186 - 4,242,100 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBLN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl53,839,502 - 3,927,183 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.153,839,498 - 3,927,178 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.251,071,068 - 1,158,743 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FBLN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11927,962,669 - 28,061,356 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1927,962,642 - 28,061,364 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604597,273,345 - 97,370,894 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbln1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247524,109,478 - 4,190,066 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247524,109,478 - 4,189,987 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBLN1
227 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006486.3(FBLN1):c.1082C>T (p.Ala361Val) single nucleotide variant not provided [RCV000728913]|not specified [RCV004026959] Chr22:45542170 [GRCh38]
Chr22:45938050 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
NM_006486.3(FBLN1):c.72G>A (p.Ala24=) single nucleotide variant not provided [RCV000959697]|not specified [RCV000173405] Chr22:45503057 [GRCh38]
Chr22:45898937 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe) single nucleotide variant Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects [RCV000054444]|not provided [RCV000128616] Chr22:45542278 [GRCh38]
Chr22:45938158 [GRCh37]
Chr22:22q13.31		 pathogenic|uncertain significance
NM_006486.2(FBLN1):c.2011C>T (p.His671Tyr) single nucleotide variant Malignant melanoma [RCV000072997] Chr22:45600345 [GRCh38]
Chr22:45996225 [GRCh37]
Chr22:44374889 [NCBI36]
Chr22:22q13.31		 not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_006486.3(FBLN1):c.1441+9G>A single nucleotide variant FBLN1-related disorder [RCV003917615]|not provided [RCV000967803]|not specified [RCV000174353] Chr22:45547213 [GRCh38]
Chr22:45943093 [GRCh37]
Chr22:22q13.31		 benign|likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 copy number gain See cases [RCV000143486] Chr22:44832749..46353315 [GRCh38]
Chr22:45228629..46749212 [GRCh37]
Chr22:43607293..45127876 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006486.3(FBLN1):c.353C>T (p.Ala118Val) single nucleotide variant not provided [RCV000178271] Chr22:45527878 [GRCh38]
Chr22:45923758 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.279G>T (p.Thr93=) single nucleotide variant not provided [RCV000177258] Chr22:45525636 [GRCh38]
Chr22:45921516 [GRCh37]
Chr22:22q13.31		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=) single nucleotide variant FBLN1-related disorder [RCV003957426]|not provided [RCV000892721]|not specified [RCV000388018] Chr22:45543414 [GRCh38]
Chr22:45939294 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=) single nucleotide variant not provided [RCV000285543] Chr22:45542162 [GRCh38]
Chr22:45938042 [GRCh37]
Chr22:22q13.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser) single nucleotide variant FBLN1-related disorder [RCV004757190]|not provided [RCV000260006] Chr22:45525643 [GRCh38]
Chr22:45921523 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met) single nucleotide variant FBLN1-related disorder [RCV003967763]|not provided [RCV000327379]|not specified [RCV004021215] Chr22:45541318 [GRCh38]
Chr22:45937198 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_006486.3(FBLN1):c.268C>T (p.Arg90Cys) single nucleotide variant not provided [RCV000295456] Chr22:45525625 [GRCh38]
Chr22:45921505 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1684C>T (p.Arg562Cys) single nucleotide variant not provided [RCV000402873] Chr22:45550602 [GRCh38]
Chr22:45946482 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu) single nucleotide variant FBLN1-related disorder [RCV003920075]|not provided [RCV002059151]|not specified [RCV000298703] Chr22:45577061 [GRCh38]
Chr22:45972941 [GRCh37]
Chr22:22q13.31		 benign|likely benign|uncertain significance
NM_006486.3(FBLN1):c.992C>A (p.Ser331Tyr) single nucleotide variant not provided [RCV000598300] Chr22:45541298 [GRCh38]
Chr22:45937178 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=) single nucleotide variant FBLN1-related disorder [RCV003945448]|not provided [RCV002532665]|not specified [RCV000592482] Chr22:45550580 [GRCh38]
Chr22:45946460 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.1441+5G>A single nucleotide variant not provided [RCV000593725] Chr22:45547209 [GRCh38]
Chr22:45943089 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.2084A>G (p.His695Arg) single nucleotide variant not provided [RCV002067161]|not specified [RCV000734006] Chr22:45600418 [GRCh38]
Chr22:45996298 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.309C>G (p.Ala103=) single nucleotide variant not provided [RCV000734783] Chr22:45525666 [GRCh38]
Chr22:45921546 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:45769244-46630634)x1 copy number loss See cases [RCV000446891] Chr22:45769244..46630634 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006486.3(FBLN1):c.1498A>G (p.Asn500Asp) single nucleotide variant not specified [RCV004299138] Chr22:45548669 [GRCh38]
Chr22:45944549 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1973-12C>G single nucleotide variant not specified [RCV000616511] Chr22:45600295 [GRCh38]
Chr22:45996175 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006486.3(FBLN1):c.1573+327C>A single nucleotide variant not provided [RCV001540719] Chr22:45549071 [GRCh38]
Chr22:45944951 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006486.3(FBLN1):c.1066+132G>A single nucleotide variant not provided [RCV001707127] Chr22:45541504 [GRCh38]
Chr22:45937384 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.186-215T>G single nucleotide variant not provided [RCV001669328] Chr22:45525328 [GRCh38]
Chr22:45921208 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.2040T>C (p.Tyr680=) single nucleotide variant not provided [RCV000962895] Chr22:45600374 [GRCh38]
Chr22:45996254 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1841-306A>G single nucleotide variant not provided [RCV001680490] Chr22:45576671 [GRCh38]
Chr22:45972551 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.646+146C>T single nucleotide variant not provided [RCV001612835] Chr22:45533310 [GRCh38]
Chr22:45929190 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1698-11350C>T single nucleotide variant not provided [RCV000762080] Chr22:45563161 [GRCh38]
Chr22:45959041 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.322-293C>T single nucleotide variant not provided [RCV001691106] Chr22:45527554 [GRCh38]
Chr22:45923434 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.321+309G>C single nucleotide variant not provided [RCV001612885] Chr22:45525987 [GRCh38]
Chr22:45921867 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1459C>T (p.Leu487=) single nucleotide variant not provided [RCV000902375] Chr22:45548630 [GRCh38]
Chr22:45944510 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.923-7G>A single nucleotide variant not provided [RCV000966103] Chr22:45541222 [GRCh38]
Chr22:45937102 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.957C>T (p.Cys319=) single nucleotide variant not provided [RCV000966104] Chr22:45541263 [GRCh38]
Chr22:45937143 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1368C>T (p.Asn456=) single nucleotide variant not provided [RCV000882489] Chr22:45547131 [GRCh38]
Chr22:45943011 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.922+6A>C single nucleotide variant FBLN1-related disorder [RCV003967960]|not provided [RCV000879203] Chr22:45535343 [GRCh38]
Chr22:45931223 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.312A>G (p.Thr104=) single nucleotide variant not provided [RCV000970930] Chr22:45525669 [GRCh38]
Chr22:45921549 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.87G>A (p.Ala29=) single nucleotide variant not provided [RCV000902305] Chr22:45518689 [GRCh38]
Chr22:45914569 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_006486.3(FBLN1):c.1866G>A (p.Thr622=) single nucleotide variant FBLN1-related disorder [RCV003913142]|not provided [RCV000929250] Chr22:45577002 [GRCh38]
Chr22:45972882 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.185+4C>T single nucleotide variant not provided [RCV000969753] Chr22:45518791 [GRCh38]
Chr22:45914671 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1872G>A (p.Pro624=) single nucleotide variant not provided [RCV000962894] Chr22:45577008 [GRCh38]
Chr22:45972888 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1120G>A (p.Val374Met) single nucleotide variant not provided [RCV000908968] Chr22:45542208 [GRCh38]
Chr22:45938088 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855496] Chr22:45600325 [GRCh38]
Chr22:45996205 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006486.3(FBLN1):c.1990C>G (p.Arg664Gly) single nucleotide variant not specified [RCV004286443] Chr22:45600324 [GRCh38]
Chr22:45996204 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1456G>A (p.Ala486Thr) single nucleotide variant not specified [RCV004291981] Chr22:45548627 [GRCh38]
Chr22:45944507 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.963C>T (p.Ile321=) single nucleotide variant Synpolydactyly type 2 [RCV001702936]|not provided [RCV001621249] Chr22:45541269 [GRCh38]
Chr22:45937149 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1973-78C>T single nucleotide variant not provided [RCV001654115] Chr22:45600229 [GRCh38]
Chr22:45996109 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.647-64T>C single nucleotide variant not provided [RCV001690868] Chr22:45533697 [GRCh38]
Chr22:45929577 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1973-319C>G single nucleotide variant not provided [RCV001638392] Chr22:45599988 [GRCh38]
Chr22:45995868 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.544+259A>C single nucleotide variant not provided [RCV001639171] Chr22:45531583 [GRCh38]
Chr22:45927463 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.185+8T>C single nucleotide variant not provided [RCV001710183] Chr22:45518795 [GRCh38]
Chr22:45914675 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.485-33A>G single nucleotide variant not provided [RCV001639712] Chr22:45531232 [GRCh38]
Chr22:45927112 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1973-221T>C single nucleotide variant not provided [RCV001689065] Chr22:45600086 [GRCh38]
Chr22:45995966 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.545-281C>T single nucleotide variant not provided [RCV001682331] Chr22:45532782 [GRCh38]
Chr22:45928662 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1442-322C>T single nucleotide variant not provided [RCV001611637] Chr22:45548291 [GRCh38]
Chr22:45944171 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1697+119G>C single nucleotide variant not provided [RCV001639949] Chr22:45550734 [GRCh38]
Chr22:45946614 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1698-11706G>A single nucleotide variant not provided [RCV001652562] Chr22:45562805 [GRCh38]
Chr22:45958685 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.2046C>T (p.Val682=) single nucleotide variant not provided [RCV000909779] Chr22:45600380 [GRCh38]
Chr22:45996260 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1542C>T (p.Tyr514=) single nucleotide variant not provided [RCV000892774] Chr22:45548713 [GRCh38]
Chr22:45944593 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr) single nucleotide variant Synpolydactyly type 2 [RCV002489423]|not provided [RCV000973631] Chr22:45550608 [GRCh38]
Chr22:45946488 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.484+5C>A single nucleotide variant not provided [RCV000955992] Chr22:45528014 [GRCh38]
Chr22:45923894 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.30C>A (p.Val10=) single nucleotide variant not provided [RCV000933969] Chr22:45503015 [GRCh38]
Chr22:45898895 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1066+126C>T single nucleotide variant not provided [RCV001621037] Chr22:45541498 [GRCh38]
Chr22:45937378 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.484+223T>C single nucleotide variant not provided [RCV001637633] Chr22:45528232 [GRCh38]
Chr22:45924112 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.322-102G>C single nucleotide variant not provided [RCV001596686] Chr22:45527745 [GRCh38]
Chr22:45923625 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006486.3(FBLN1):c.1973-77A>G single nucleotide variant not provided [RCV001720620] Chr22:45600230 [GRCh38]
Chr22:45996110 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1841-247G>A single nucleotide variant not provided [RCV001654566] Chr22:45576730 [GRCh38]
Chr22:45972610 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1442-224C>T single nucleotide variant not provided [RCV001720692] Chr22:45548389 [GRCh38]
Chr22:45944269 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1441+208_1441+209del deletion not provided [RCV001695783] Chr22:45547387..45547388 [GRCh38]
Chr22:45943267..45943268 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.484+116dup duplication not provided [RCV001687354] Chr22:45528121..45528122 [GRCh38]
Chr22:45924001..45924002 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.321+325C>T single nucleotide variant not provided [RCV001618733] Chr22:45526003 [GRCh38]
Chr22:45921883 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.544+244G>A single nucleotide variant not provided [RCV001618885] Chr22:45531568 [GRCh38]
Chr22:45927448 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.322-307G>A single nucleotide variant not provided [RCV001657642] Chr22:45527540 [GRCh38]
Chr22:45923420 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1697+7239G>A single nucleotide variant not provided [RCV001657333] Chr22:45557854 [GRCh38]
Chr22:45953734 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.485-100T>C single nucleotide variant not provided [RCV001620084] Chr22:45531165 [GRCh38]
Chr22:45927045 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.484+284T>C single nucleotide variant not provided [RCV001616123] Chr22:45528293 [GRCh38]
Chr22:45924173 [GRCh37]
Chr22:22q13.31		 benign
NC_000022.11:g.45502712G>C single nucleotide variant not provided [RCV001621837] Chr22:45502712 [GRCh38]
Chr22:45898592 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.321+73C>T single nucleotide variant not provided [RCV001539135] Chr22:45525751 [GRCh38]
Chr22:45921631 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.647-44del deletion not provided [RCV001639428] Chr22:45533715 [GRCh38]
Chr22:45929595 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.647-293C>T single nucleotide variant not provided [RCV001596287] Chr22:45533468 [GRCh38]
Chr22:45929348 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.545-102G>A single nucleotide variant not provided [RCV001637523] Chr22:45532961 [GRCh38]
Chr22:45928841 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.784+297dup duplication not provided [RCV001621197] Chr22:45534194..45534195 [GRCh38]
Chr22:45930074..45930075 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1322-239G>T single nucleotide variant not provided [RCV001656663] Chr22:45546846 [GRCh38]
Chr22:45942726 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.545-283T>C single nucleotide variant not provided [RCV001670104] Chr22:45532780 [GRCh38]
Chr22:45928660 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1698-9178C>T single nucleotide variant not provided [RCV001684481] Chr22:45565333 [GRCh38]
Chr22:45961213 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.544+16C>G single nucleotide variant not provided [RCV001667723] Chr22:45531340 [GRCh38]
Chr22:45927220 [GRCh37]
Chr22:22q13.31		 pathogenic|benign
NM_006486.3(FBLN1):c.545-192C>G single nucleotide variant not provided [RCV001614557] Chr22:45532871 [GRCh38]
Chr22:45928751 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1195+175A>G single nucleotide variant not provided [RCV001696272] Chr22:45542458 [GRCh38]
Chr22:45938338 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.185+25T>G single nucleotide variant not provided [RCV001693211] Chr22:45518812 [GRCh38]
Chr22:45914692 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.422A>G (p.Gln141Arg) single nucleotide variant Synpolydactyly type 2 [RCV001702191]|not provided [RCV002073300] Chr22:45527947 [GRCh38]
Chr22:45923827 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.922+45C>T single nucleotide variant not provided [RCV001667110] Chr22:45535382 [GRCh38]
Chr22:45931262 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.484+205C>T single nucleotide variant not provided [RCV001681997] Chr22:45528214 [GRCh38]
Chr22:45924094 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.485-103G>A single nucleotide variant not provided [RCV001649324] Chr22:45531162 [GRCh38]
Chr22:45927042 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.185+300A>G single nucleotide variant not provided [RCV001666155] Chr22:45519087 [GRCh38]
Chr22:45914967 [GRCh37]
Chr22:22q13.31		 benign
NC_000022.11:g.45502794G>C single nucleotide variant not provided [RCV001652453] Chr22:45502794 [GRCh38]
Chr22:45898674 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1441+209dup duplication not provided [RCV001696625] Chr22:45547386..45547387 [GRCh38]
Chr22:45943266..45943267 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1697+7534G>A single nucleotide variant not provided [RCV001683887] Chr22:45558149 [GRCh38]
Chr22:45954029 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1697+7783G>A single nucleotide variant not provided [RCV001709261] Chr22:45558398 [GRCh38]
Chr22:45954278 [GRCh37]
Chr22:22q13.31		 benign
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln) single nucleotide variant Synpolydactyly type 2 [RCV001332774] Chr22:45503017 [GRCh38]
Chr22:45898897 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.483G>A (p.Thr161=) single nucleotide variant not provided [RCV004598799] Chr22:45528008 [GRCh38]
Chr22:45923888 [GRCh37]
Chr22:22q13.31		 likely benign
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006486.3(FBLN1):c.80-101G>A single nucleotide variant not provided [RCV001538713] Chr22:45518581 [GRCh38]
Chr22:45914461 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.545-197A>C single nucleotide variant not provided [RCV001653178] Chr22:45532866 [GRCh38]
Chr22:45928746 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.2079C>T (p.Asn693=) single nucleotide variant not provided [RCV001671035] Chr22:45600413 [GRCh38]
Chr22:45996293 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.923-48G>A single nucleotide variant not provided [RCV001715015] Chr22:45541181 [GRCh38]
Chr22:45937061 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1441+119A>G single nucleotide variant not provided [RCV001679684] Chr22:45547323 [GRCh38]
Chr22:45943203 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.646+156T>C single nucleotide variant not provided [RCV001666903] Chr22:45533320 [GRCh38]
Chr22:45929200 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.647-27C>T single nucleotide variant not provided [RCV001645771] Chr22:45533734 [GRCh38]
Chr22:45929614 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1698-11054C>T single nucleotide variant not provided [RCV001688598] Chr22:45563457 [GRCh38]
Chr22:45959337 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.485-265G>A single nucleotide variant not provided [RCV001687164] Chr22:45531000 [GRCh38]
Chr22:45926880 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.80-21C>T single nucleotide variant not provided [RCV001671359] Chr22:45518661 [GRCh38]
Chr22:45914541 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.647-250G>A single nucleotide variant not provided [RCV001671951] Chr22:45533511 [GRCh38]
Chr22:45929391 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.186-64G>A single nucleotide variant not provided [RCV001691578] Chr22:45525479 [GRCh38]
Chr22:45921359 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1441+209del deletion not provided [RCV001617378] Chr22:45547387 [GRCh38]
Chr22:45943267 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.185+276_185+277insCTCTGCCACAGCTGGGCAGCTG insertion not provided [RCV001539916] Chr22:45519056..45519057 [GRCh38]
Chr22:45914936..45914937 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.647-214A>C single nucleotide variant not provided [RCV001536916] Chr22:45533547 [GRCh38]
Chr22:45929427 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) copy number loss not specified [RCV002052758] Chr22:43451316..46662660 [GRCh37]
Chr22:22q13.2-13.31		 pathogenic
NM_006486.3(FBLN1):c.89A>G (p.Asp30Gly) single nucleotide variant not provided [RCV002039843] Chr22:45518691 [GRCh38]
Chr22:45914571 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.240G>A (p.Thr80=) single nucleotide variant not provided [RCV001903326] Chr22:45525597 [GRCh38]
Chr22:45921477 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.62C>T (p.Ala21Val) single nucleotide variant not provided [RCV002036120] Chr22:45503047 [GRCh38]
Chr22:45898927 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.490A>G (p.Ile164Val) single nucleotide variant FBLN1-related disorder [RCV003948879]|not provided [RCV002049681] Chr22:45531270 [GRCh38]
Chr22:45927150 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_006486.3(FBLN1):c.378C>T (p.Cys126=) single nucleotide variant not provided [RCV002031178] Chr22:45527903 [GRCh38]
Chr22:45923783 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1685G>A (p.Arg562His) single nucleotide variant Synpolydactyly type 2 [RCV003146487]|not provided [RCV002029655] Chr22:45550603 [GRCh38]
Chr22:45946483 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1490G>A (p.Arg497His) single nucleotide variant not provided [RCV001989904]|not specified [RCV004043939] Chr22:45548661 [GRCh38]
Chr22:45944541 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.2047G>A (p.Gly683Arg) single nucleotide variant not provided [RCV001937608] Chr22:45600381 [GRCh38]
Chr22:45996261 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1973-5C>A single nucleotide variant not provided [RCV001937633] Chr22:45600302 [GRCh38]
Chr22:45996182 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.922+14C>T single nucleotide variant not provided [RCV002126662] Chr22:45535351 [GRCh38]
Chr22:45931231 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1011C>T (p.Asn337=) single nucleotide variant not provided [RCV002088194] Chr22:45541317 [GRCh38]
Chr22:45937197 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.422= (p.Gln141=) variation not provided [RCV002170208] Chr22:45527947 [GRCh38]
Chr22:45923827 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1973-5C>T single nucleotide variant FBLN1-related disorder [RCV003923498]|not provided [RCV002185043] Chr22:45600302 [GRCh38]
Chr22:45996182 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.1697C>T (p.Thr566Met) single nucleotide variant FBLN1-related disorder [RCV003911183]|not provided [RCV002087364] Chr22:45550615 [GRCh38]
Chr22:45946495 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.450C>T (p.Thr150=) single nucleotide variant FBLN1-related disorder [RCV003911168]|not provided [RCV002097162] Chr22:45527975 [GRCh38]
Chr22:45923855 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.687T>C (p.Leu229=) single nucleotide variant not provided [RCV002174904] Chr22:45533801 [GRCh38]
Chr22:45929681 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1173C>T (p.Asp391=) single nucleotide variant not provided [RCV002174422] Chr22:45542261 [GRCh38]
Chr22:45938141 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.2025G>A (p.Lys675=) single nucleotide variant not provided [RCV002083352] Chr22:45600359 [GRCh38]
Chr22:45996239 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.185+17C>T single nucleotide variant not provided [RCV002178893] Chr22:45518804 [GRCh38]
Chr22:45914684 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1949G>A (p.Arg650His) single nucleotide variant Synpolydactyly type 2 [RCV004787204] Chr22:45577085 [GRCh38]
Chr22:45972965 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006486.3(FBLN1):c.2080G>A (p.Val694Ile) single nucleotide variant not specified [RCV004079228] Chr22:45600414 [GRCh38]
Chr22:45996294 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.304G>A (p.Glu102Lys) single nucleotide variant not provided [RCV003015397] Chr22:45525661 [GRCh38]
Chr22:45921541 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1856G>A (p.Arg619Gln) single nucleotide variant not specified [RCV004104075] Chr22:45576992 [GRCh38]
Chr22:45972872 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.79+19C>T single nucleotide variant not provided [RCV002755894] Chr22:45503083 [GRCh38]
Chr22:45898963 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1147G>A (p.Glu383Lys) single nucleotide variant not specified [RCV004175011] Chr22:45542235 [GRCh38]
Chr22:45938115 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.604T>A (p.Phe202Ile) single nucleotide variant not specified [RCV004166753] Chr22:45533122 [GRCh38]
Chr22:45929002 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.86C>T (p.Ala29Val) single nucleotide variant not specified [RCV004135080] Chr22:45518688 [GRCh38]
Chr22:45914568 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1202A>G (p.Asn401Ser) single nucleotide variant not provided [RCV002871297] Chr22:45543407 [GRCh38]
Chr22:45939287 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1308C>G (p.Gly436=) single nucleotide variant not provided [RCV002592349] Chr22:45543513 [GRCh38]
Chr22:45939393 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.2018T>C (p.Val673Ala) single nucleotide variant not provided [RCV002695573] Chr22:45600352 [GRCh38]
Chr22:45996232 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1832G>A (p.Arg611His) single nucleotide variant not specified [RCV004082559] Chr22:45574645 [GRCh38]
Chr22:45970525 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1058G>T (p.Arg353Leu) single nucleotide variant not specified [RCV004184348] Chr22:45541364 [GRCh38]
Chr22:45937244 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1978G>A (p.Val660Met) single nucleotide variant not specified [RCV004134440] Chr22:45600312 [GRCh38]
Chr22:45996192 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1103G>T (p.Gly368Val) single nucleotide variant not specified [RCV004105985] Chr22:45542191 [GRCh38]
Chr22:45938071 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1751A>G (p.Asn584Ser) single nucleotide variant not specified [RCV004202359] Chr22:45574564 [GRCh38]
Chr22:45970444 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.322-17T>C single nucleotide variant not provided [RCV002790620] Chr22:45527830 [GRCh38]
Chr22:45923710 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.286G>T (p.Gly96Cys) single nucleotide variant not specified [RCV004159805] Chr22:45525643 [GRCh38]
Chr22:45921523 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1221C>T (p.Pro407=) single nucleotide variant FBLN1-related disorder [RCV003963404]|not provided [RCV002917981] Chr22:45543426 [GRCh38]
Chr22:45939306 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.785-13T>C single nucleotide variant not provided [RCV003041133] Chr22:45535187 [GRCh38]
Chr22:45931067 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1235G>T (p.Gly412Val) single nucleotide variant not specified [RCV004173862] Chr22:45543440 [GRCh38]
Chr22:45939320 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1721C>T (p.Thr574Met) single nucleotide variant not specified [RCV004209682] Chr22:45574534 [GRCh38]
Chr22:45970414 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1322-14G>A single nucleotide variant not provided [RCV002800654] Chr22:45547071 [GRCh38]
Chr22:45942951 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1282G>T (p.Val428Leu) single nucleotide variant FBLN1-related disorder [RCV003926493]|not provided [RCV002917898] Chr22:45543487 [GRCh38]
Chr22:45939367 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_006486.3(FBLN1):c.1642G>T (p.Gly548Cys) single nucleotide variant not provided [RCV003049228] Chr22:45550560 [GRCh38]
Chr22:45946440 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.74C>A (p.Ala25Asp) single nucleotide variant not provided [RCV002599911] Chr22:45503059 [GRCh38]
Chr22:45898939 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1665G>A (p.Glu555=) single nucleotide variant not provided [RCV003028924] Chr22:45550583 [GRCh38]
Chr22:45946463 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.730C>T (p.Arg244Trp) single nucleotide variant not provided [RCV002630187] Chr22:45533844 [GRCh38]
Chr22:45929724 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1563C>T (p.Arg521=) single nucleotide variant not provided [RCV002716873] Chr22:45548734 [GRCh38]
Chr22:45944614 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1819C>T (p.Arg607Cys) single nucleotide variant not specified [RCV004163549] Chr22:45574632 [GRCh38]
Chr22:45970512 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.299G>C (p.Ser100Thr) single nucleotide variant not specified [RCV004168835] Chr22:45525656 [GRCh38]
Chr22:45921536 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1240A>C (p.Lys414Gln) single nucleotide variant not specified [RCV004153169] Chr22:45543445 [GRCh38]
Chr22:45939325 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1891A>G (p.Asn631Asp) single nucleotide variant not specified [RCV004194165] Chr22:45577027 [GRCh38]
Chr22:45972907 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1375G>A (p.Gly459Ser) single nucleotide variant not specified [RCV004101414] Chr22:45547138 [GRCh38]
Chr22:45943018 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.785-6T>C single nucleotide variant not provided [RCV002633851] Chr22:45535194 [GRCh38]
Chr22:45931074 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1703A>G (p.Gln568Arg) single nucleotide variant not specified [RCV004261085] Chr22:45574516 [GRCh38]
Chr22:45970396 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.466G>C (p.Gly156Arg) single nucleotide variant not specified [RCV004276291] Chr22:45527991 [GRCh38]
Chr22:45923871 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.2092G>A (p.Val698Ile) single nucleotide variant not specified [RCV004261346] Chr22:45600426 [GRCh38]
Chr22:45996306 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe) single nucleotide variant not specified [RCV004323972] Chr22:45600430 [GRCh38]
Chr22:45996310 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.113C>T (p.Ala38Val) single nucleotide variant not specified [RCV004331682] Chr22:45518715 [GRCh38]
Chr22:45914595 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.451G>A (p.Gly151Arg) single nucleotide variant Synpolydactyly type 2 [RCV003340712] Chr22:45527976 [GRCh38]
Chr22:45923856 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1957G>A (p.Asp653Asn) single nucleotide variant not provided [RCV003730542]|not specified [RCV004338111] Chr22:45577093 [GRCh38]
Chr22:45972973 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1770C>A (p.Phe590Leu) single nucleotide variant not specified [RCV004359019] Chr22:45574583 [GRCh38]
Chr22:45970463 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.482C>T (p.Thr161Met) single nucleotide variant not specified [RCV004346094] Chr22:45528007 [GRCh38]
Chr22:45923887 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006486.3(FBLN1):c.2100G>A (p.Glu700=) single nucleotide variant not provided [RCV003437648] Chr22:45600434 [GRCh38]
Chr22:45996314 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.79+13C>G single nucleotide variant not provided [RCV003880290] Chr22:45503077 [GRCh38]
Chr22:45898957 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1698-9527G>T single nucleotide variant FBLN1-related disorder [RCV003929121]|not provided [RCV003437647] Chr22:45564984 [GRCh38]
Chr22:45960864 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.1292G>A (p.Arg431Gln) single nucleotide variant not provided [RCV003437645] Chr22:45543497 [GRCh38]
Chr22:45939377 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1321+6G>C single nucleotide variant not provided [RCV003437646] Chr22:45543532 [GRCh38]
Chr22:45939412 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006486.3(FBLN1):c.1698-11349G>A single nucleotide variant not provided [RCV003433292] Chr22:45563162 [GRCh38]
Chr22:45959042 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.321+6A>G single nucleotide variant not provided [RCV003433290] Chr22:45525684 [GRCh38]
Chr22:45921564 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1698-11500G>A single nucleotide variant not provided [RCV003433291] Chr22:45563011 [GRCh38]
Chr22:45958891 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.74C>T (p.Ala25Val) single nucleotide variant not provided [RCV003696178] Chr22:45503059 [GRCh38]
Chr22:45898939 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1449C>T (p.Asp483=) single nucleotide variant not provided [RCV003879972] Chr22:45548620 [GRCh38]
Chr22:45944500 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.784+11C>T single nucleotide variant not provided [RCV003811271] Chr22:45533909 [GRCh38]
Chr22:45929789 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1369G>A (p.Val457Ile) single nucleotide variant FBLN1-related disorder [RCV003939109]|not provided [RCV003579729] Chr22:45547132 [GRCh38]
Chr22:45943012 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.2016C>T (p.Ala672=) single nucleotide variant not provided [RCV003817335] Chr22:45600350 [GRCh38]
Chr22:45996230 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.58C>T (p.Leu20Phe) single nucleotide variant not provided [RCV003836202] Chr22:45503043 [GRCh38]
Chr22:45898923 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1321+12del deletion not provided [RCV003717343] Chr22:45543535 [GRCh38]
Chr22:45939415 [GRCh37]
Chr22:22q13.31		 benign
NM_006486.3(FBLN1):c.1797C>T (p.Thr599=) single nucleotide variant not provided [RCV003717404] Chr22:45574610 [GRCh38]
Chr22:45970490 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1468G>A (p.Gly490Arg) single nucleotide variant not provided [RCV003839729] Chr22:45548639 [GRCh38]
Chr22:45944519 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1119C>T (p.Cys373=) single nucleotide variant not provided [RCV003724334] Chr22:45542207 [GRCh38]
Chr22:45938087 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.152C>T (p.Ser51Leu) single nucleotide variant not provided [RCV003836559]|not specified [RCV004366871] Chr22:45518754 [GRCh38]
Chr22:45914634 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1494C>T (p.Cys498=) single nucleotide variant not provided [RCV003861102] Chr22:45548665 [GRCh38]
Chr22:45944545 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.661A>G (p.Ile221Val) single nucleotide variant not provided [RCV003819459] Chr22:45533775 [GRCh38]
Chr22:45929655 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.975C>T (p.Cys325=) single nucleotide variant not provided [RCV003858873] Chr22:45541281 [GRCh38]
Chr22:45937161 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006486.3(FBLN1):c.1697+7447C>T single nucleotide variant FBLN1-related disorder [RCV003939326] Chr22:45558062 [GRCh38]
Chr22:45953942 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1 copy number loss not specified [RCV003986192] Chr22:43920110..46548382 [GRCh37]
Chr22:22q13.2-13.31		 likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006486.3(FBLN1):c.79+14G>C single nucleotide variant not provided [RCV003872374] Chr22:45503078 [GRCh38]
Chr22:45898958 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NM_006486.3(FBLN1):c.1146C>T (p.Cys382=) single nucleotide variant FBLN1-related disorder [RCV003941365] Chr22:45542234 [GRCh38]
Chr22:45938114 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1467C>T (p.Thr489=) single nucleotide variant not provided [RCV003722933] Chr22:45548638 [GRCh38]
Chr22:45944518 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.465C>T (p.Val155=) single nucleotide variant not provided [RCV003552466] Chr22:45527990 [GRCh38]
Chr22:45923870 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1821C>T (p.Arg607=) single nucleotide variant not provided [RCV003553339] Chr22:45574634 [GRCh38]
Chr22:45970514 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1674G>C (p.Glu558Asp) single nucleotide variant FBLN1-related disorder [RCV003919266]|not provided [RCV003552981] Chr22:45550592 [GRCh38]
Chr22:45946472 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_006486.3(FBLN1):c.1792C>T (p.His598Tyr) single nucleotide variant not provided [RCV003824025] Chr22:45574605 [GRCh38]
Chr22:45970485 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1698-6C>T single nucleotide variant not provided [RCV003562517] Chr22:45574505 [GRCh38]
Chr22:45970385 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1698-11442C>T single nucleotide variant FBLN1-related disorder [RCV003947034] Chr22:45563069 [GRCh38]
Chr22:45958949 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1698-11497C>T single nucleotide variant FBLN1-related disorder [RCV003943861] Chr22:45563014 [GRCh38]
Chr22:45958894 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1698-11532_1698-11531del deletion FBLN1-related disorder [RCV003914004] Chr22:45562979..45562980 [GRCh38]
Chr22:45958859..45958860 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1698-11326C>T single nucleotide variant FBLN1-related disorder [RCV003923954] Chr22:45563185 [GRCh38]
Chr22:45959065 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1827C>T (p.Phe609=) single nucleotide variant FBLN1-related disorder [RCV003954589] Chr22:45574640 [GRCh38]
Chr22:45970520 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1080C>T (p.Cys360=) single nucleotide variant FBLN1-related disorder [RCV003959656] Chr22:45542168 [GRCh38]
Chr22:45938048 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1663G>A (p.Glu555Lys) single nucleotide variant FBLN1-related disorder [RCV003949776] Chr22:45550581 [GRCh38]
Chr22:45946461 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1698-9578G>A single nucleotide variant not provided [RCV004546386] Chr22:45564933 [GRCh38]
Chr22:45960813 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.79+6G>A single nucleotide variant FBLN1-related disorder [RCV003896913] Chr22:45503070 [GRCh38]
Chr22:45898950 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1058G>A (p.Arg353His) single nucleotide variant not specified [RCV004386199] Chr22:45541364 [GRCh38]
Chr22:45937244 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1682G>A (p.Arg561His) single nucleotide variant not specified [RCV004386201] Chr22:45550600 [GRCh38]
Chr22:45946480 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.170A>C (p.Glu57Ala) single nucleotide variant not specified [RCV004386202] Chr22:45518772 [GRCh38]
Chr22:45914652 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1752C>T (p.Asn584=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560272] Chr22:45574565 [GRCh38]
Chr22:45970445 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.1396C>T (p.Arg466Trp) single nucleotide variant not specified [RCV004386200] Chr22:45547159 [GRCh38]
Chr22:45943039 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1910C>T (p.Thr637Met) single nucleotide variant not specified [RCV004386205] Chr22:45577046 [GRCh38]
Chr22:45972926 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.578C>T (p.Thr193Met) single nucleotide variant not specified [RCV004386207] Chr22:45533096 [GRCh38]
Chr22:45928976 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1799T>C (p.Val600Ala) single nucleotide variant not specified [RCV004386204] Chr22:45574612 [GRCh38]
Chr22:45970492 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1943T>C (p.Ile648Thr) single nucleotide variant not specified [RCV004386206] Chr22:45577079 [GRCh38]
Chr22:45972959 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.686T>C (p.Leu229Pro) single nucleotide variant not specified [RCV004386208] Chr22:45533800 [GRCh38]
Chr22:45929680 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1235G>A (p.Gly412Asp) single nucleotide variant not specified [RCV004621025] Chr22:45543440 [GRCh38]
Chr22:45939320 [GRCh37]
Chr22:22q13.31		 uncertain significance
NC_000022.10:g.(?_45958792)_(46971995_?)del deletion not provided [RCV004579284] Chr22:45958792..46971995 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_006486.3(FBLN1):c.1309A>G (p.Arg437Gly) single nucleotide variant not specified [RCV004621027] Chr22:45543514 [GRCh38]
Chr22:45939394 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.620T>C (p.Leu207Pro) single nucleotide variant not specified [RCV004621023] Chr22:45533138 [GRCh38]
Chr22:45929018 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.905C>T (p.Ala302Val) single nucleotide variant not specified [RCV004621024] Chr22:45535320 [GRCh38]
Chr22:45931200 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1489C>T (p.Arg497Cys) single nucleotide variant Synpolydactyly type 2 [RCV004795521] Chr22:45548660 [GRCh38]
Chr22:45944540 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1771G>A (p.Asp591Asn) single nucleotide variant FBLN1-related disorder [RCV004757662] Chr22:45574584 [GRCh38]
Chr22:45970464 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.293A>T (p.Asn98Ile) single nucleotide variant not specified [RCV004702776] Chr22:45525650 [GRCh38]
Chr22:45921530 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006486.3(FBLN1):c.1776C>T (p.Pro592=) single nucleotide variant FBLN1-related disorder [RCV004731743] Chr22:45574589 [GRCh38]
Chr22:45970469 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006486.3(FBLN1):c.769G>A (p.Asp257Asn) single nucleotide variant FBLN1-related disorder [RCV004757861] Chr22:45533883 [GRCh38]
Chr22:45929763 [GRCh37]
Chr22:22q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5497
Count of miRNA genes:1254
Interacting mature miRNAs:1622
Transcripts:ENST00000262722, ENST00000327858, ENST00000340923, ENST00000348697, ENST00000402984, ENST00000411478, ENST00000437711, ENST00000439835, ENST00000442170, ENST00000445110, ENST00000450975, ENST00000451475, ENST00000454279, ENST00000455233, ENST00000460300, ENST00000460538, ENST00000465578, ENST00000476366, ENST00000484531
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597133845GWAS1229919_Hhematocrit QTL GWAS1229919 (human)4e-10hematocrithematocrit (CMO:0000037)224558957745589578Human
597327449GWAS1423523_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1423523 (human)7e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)224560041845600419Human
597197276GWAS1293350_Hhemoglobin measurement QTL GWAS1293350 (human)4e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)224559713545597136Human
596965266GWAS1084785_Hdiet measurement, IGF-1 measurement QTL GWAS1084785 (human)0.000008diet measurement, IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)224557600045576001Human
597257744GWAS1353818_Htotal cholesterol measurement QTL GWAS1353818 (human)5e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)224560041845600419Human
597327635GWAS1423709_Hprostate specific antigen amount QTL GWAS1423709 (human)2e-10prostate specific antigen amount224560041845600419Human
597322833GWAS1418907_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1418907 (human)5e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)224560041845600419Human
597615507GWAS1672367_Hprostate specific antigen amount QTL GWAS1672367 (human)1e-23prostate specific antigen amount224560041845600419Human
597259977GWAS1356051_Htotal cholesterol measurement QTL GWAS1356051 (human)2e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)224560041845600419Human
597604559GWAS1661419_Hheart rate QTL GWAS1661419 (human)1e-12heart rateheart rate (CMO:0000002)224560041845600419Human
407127824GWAS776800_Hbehavior or behavioral disorder measurement, personality trait QTL GWAS776800 (human)2e-08behavior or behavioral disorder measurement, personality trait224556602445566025Human
597040654GWAS1136728_Hlow density lipoprotein cholesterol measurement QTL GWAS1136728 (human)4e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)224560041845600419Human
597617604GWAS1674464_Hprostate specific antigen amount QTL GWAS1674464 (human)1e-27prostate specific antigen amount224560041845600419Human
596965967GWAS1085486_Hprostate specific antigen amount QTL GWAS1085486 (human)2e-10prostate specific antigen amount224560041845600419Human
407128408GWAS777384_Habnormal paneth cell measurement QTL GWAS777384 (human)0.000004abnormal paneth cell measurement224554044045540441Human
597024904GWAS1120978_Herythrocyte count QTL GWAS1120978 (human)3e-14erythrocyte countred blood cell count (CMO:0000025)224559633745596338Human
597321848GWAS1417922_Hlow density lipoprotein cholesterol measurement QTL GWAS1417922 (human)4e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)224560041845600419Human
597350713GWAS1446787_Hbody height QTL GWAS1446787 (human)4e-16body height (VT:0001253)body height (CMO:0000106)224554270445542705Human
597591035GWAS1647895_Hprostate specific antigen amount QTL GWAS1647895 (human)5e-13prostate specific antigen amount224560041845600419Human
407103012GWAS751988_Hobsolete_prostate specific antigen measurement QTL GWAS751988 (human)2e-10obsolete_prostate specific antigen measurement224560041845600419Human
597615734GWAS1672594_Hprostate specific antigen amount QTL GWAS1672594 (human)4e-21prostate specific antigen amount224560041845600419Human
597431285GWAS1527359_Hprotein measurement QTL GWAS1527359 (human)1e-11protein measurement224554559645545597Human
597255411GWAS1351485_Hurate measurement, bone density QTL GWAS1351485 (human)7e-13bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)224557507145575072Human
597593396GWAS1650256_Hprostate specific antigen amount QTL GWAS1650256 (human)5e-28prostate specific antigen amount224560041845600419Human
597604404GWAS1661264_Hprostate specific antigen amount QTL GWAS1661264 (human)1e-31prostate specific antigen amount224560041845600419Human
597075576GWAS1171650_HQT interval QTL GWAS1171650 (human)0.000003QT intervalQT interval (CMO:0000235)224554114145541142Human
597268777GWAS1364851_Hlow density lipoprotein cholesterol measurement QTL GWAS1364851 (human)5e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)224560041845600419Human
597101347GWAS1197421_Hlow density lipoprotein cholesterol measurement QTL GWAS1197421 (human)9e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)224560041845600419Human
597167021GWAS1263095_Hbrain measurement QTL GWAS1263095 (human)9e-13brain measurementbrain measurement (CMO:0000911)224558250845582509Human
597060012GWAS1156086_HFEV/FVC ratio QTL GWAS1156086 (human)1e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)224553332045533321Human
597051501GWAS1147575_Hglucagon measurement QTL GWAS1147575 (human)0.000004glucagon measurementblood glucagon level (CMO:0001294)224558949145589492Human
597604834GWAS1661694_Hprostate specific antigen amount QTL GWAS1661694 (human)1e-36prostate specific antigen amount224560041845600419Human
597199781GWAS1295855_Hpregnancy disorder QTL GWAS1295855 (human)0.000007pregnancy disorder224552157145521572Human
597178661GWAS1274735_Hhemoglobin measurement QTL GWAS1274735 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)224558802145588022Human
597151593GWAS1247667_Hdiet measurement, IGF-1 measurement QTL GWAS1247667 (human)0.000008diet measurement, IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)224557600045576001Human

Markers in Region
D22S444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,961,526 - 45,961,647UniSTSGRCh37
Build 362244,340,190 - 44,340,311RGDNCBI36
Celera2229,872,497 - 29,872,622RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,922 - 28,907,047UniSTS
Marshfield Genetic Map2251.54RGD
Marshfield Genetic Map2251.54UniSTS
deCODE Assembly Map2258.85UniSTS
Stanford-G3 RH Map221538.0UniSTS
Whitehead-RH Map22174.1UniSTS
NCBI RH Map22220.4UniSTS
SHGC-11380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,809 - 45,996,962UniSTSGRCh37
Build 362244,375,473 - 44,375,626RGDNCBI36
Celera2229,909,439 - 29,909,592RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,942,207 - 28,942,360UniSTS
Stanford-G3 RH Map221548.0UniSTS
GeneMap99-G3 RH Map221548.0UniSTS
RH15754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,916,481 - 45,916,627UniSTSGRCh37
Build 362244,295,145 - 44,295,291RGDNCBI36
Celera2229,827,452 - 29,827,598RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,861,875 - 28,862,021UniSTS
WIAF-1606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,960,872 - 45,961,370UniSTSGRCh37
Build 362244,339,536 - 44,340,034RGDNCBI36
Celera2229,871,843 - 29,872,341RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,268 - 28,906,766UniSTS
G49289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,971,728 - 45,972,039UniSTSGRCh37
Build 362244,350,392 - 44,350,703RGDNCBI36
Celera2229,884,354 - 29,884,665RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,917,126 - 28,917,437UniSTS
G49290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,971,826 - 45,972,182UniSTSGRCh37
Build 362244,350,490 - 44,350,846RGDNCBI36
Celera2229,884,452 - 29,884,808RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,917,224 - 28,917,580UniSTS
G59664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,960,878 - 45,961,125UniSTSGRCh37
Build 362244,339,542 - 44,339,789RGDNCBI36
Celera2229,871,849 - 29,872,096RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,274 - 28,906,521UniSTS
G60177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,960,878 - 45,961,151UniSTSGRCh37
Build 362244,339,542 - 44,339,815RGDNCBI36
Celera2229,871,849 - 29,872,122RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,274 - 28,906,547UniSTS
G62037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,748 - 45,996,856UniSTSGRCh37
Build 362244,375,412 - 44,375,520RGDNCBI36
Celera2229,909,378 - 29,909,486RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,942,146 - 28,942,254UniSTS
G65370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,922,681 - 45,923,031UniSTSGRCh37
Build 362244,301,345 - 44,301,695RGDNCBI36
Celera2229,833,653 - 29,834,003RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,868,076 - 28,868,426UniSTS
G65371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,930,392 - 45,930,743UniSTSGRCh37
Build 362244,309,056 - 44,309,407RGDNCBI36
Celera2229,841,363 - 29,841,714RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,875,785 - 28,876,136UniSTS
G65372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,934,244 - 45,934,595UniSTSGRCh37
Build 362244,312,908 - 44,313,259RGDNCBI36
Celera2229,845,214 - 29,845,565RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,879,636 - 28,879,987UniSTS
G65373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,937,190 - 45,937,542UniSTSGRCh37
Build 362244,315,854 - 44,316,206RGDNCBI36
Celera2229,848,160 - 29,848,512RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,882,582 - 28,882,934UniSTS
G65369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,907,760 - 45,908,119UniSTSGRCh37
Build 362244,286,424 - 44,286,783RGDNCBI36
Celera2229,818,729 - 29,819,088RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,853,151 - 28,853,510UniSTS
AL021648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,937,685 - 45,937,867UniSTSGRCh37
Build 362244,316,349 - 44,316,531RGDNCBI36
Celera2229,848,655 - 29,848,837RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,883,077 - 28,883,259UniSTS
D22S1238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,961,062 - 45,961,170UniSTSGRCh37
Build 362244,339,726 - 44,339,834RGDNCBI36
Celera2229,872,033 - 29,872,141RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,458 - 28,906,566UniSTS
Stanford-G3 RH Map221542.0UniSTS
GeneMap99-G3 RH Map221542.0UniSTS
PMC115182P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,939,806 - 45,940,392UniSTSGRCh37
Build 362244,318,470 - 44,319,056RGDNCBI36
Celera2229,850,776 - 29,851,362RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,885,198 - 28,885,784UniSTS
D22S1237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,369 - 45,996,533UniSTSGRCh37
Build 362244,375,033 - 44,375,197RGDNCBI36
Celera2229,908,999 - 29,909,163RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,941,767 - 28,941,931UniSTS
Stanford-G3 RH Map221545.0UniSTS
NCBI RH Map22230.8UniSTS
GeneMap99-G3 RH Map221545.0UniSTS
D22S1102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,789 - 45,997,014UniSTSGRCh37
Build 362244,375,453 - 44,375,678RGDNCBI36
Celera2229,909,419 - 29,909,644RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,942,187 - 28,942,412UniSTS
GeneMap99-GB4 RH Map22154.59UniSTS
Whitehead-RH Map22176.3UniSTS
NCBI RH Map22220.4UniSTS
G06348  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2428 2788 2249 4954 1724 2350 5 622 1554 465 2269 6898 6074 53 3715 851 1743 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF126110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI092723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX403501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX424750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX443677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB852401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC700999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC701000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U01244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262722   ⟹   ENSP00000262722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,883 - 45,563,362 (+)Ensembl
Ensembl Acc Id: ENST00000327858   ⟹   ENSP00000331544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,883 - 45,601,135 (+)Ensembl
Ensembl Acc Id: ENST00000340923   ⟹   ENSP00000342212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,976 - 45,558,711 (+)Ensembl
Ensembl Acc Id: ENST00000402984   ⟹   ENSP00000385521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,883 - 45,563,352 (+)Ensembl
Ensembl Acc Id: ENST00000411478   ⟹   ENSP00000415289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,238 - 45,531,324 (+)Ensembl
Ensembl Acc Id: ENST00000437711   ⟹   ENSP00000401077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,525,675 - 45,542,214 (+)Ensembl
Ensembl Acc Id: ENST00000439835   ⟹   ENSP00000395329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,503,046 - 45,525,563 (+)Ensembl
Ensembl Acc Id: ENST00000442170   ⟹   ENSP00000393812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,970 - 45,565,701 (+)Ensembl
Ensembl Acc Id: ENST00000445110   ⟹   ENSP00000404024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,277 - 45,525,678 (+)Ensembl
Ensembl Acc Id: ENST00000450975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,517,345 - 45,518,786 (+)Ensembl
Ensembl Acc Id: ENST00000451475   ⟹   ENSP00000415160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,518,783 - 45,533,898 (+)Ensembl
Ensembl Acc Id: ENST00000454279   ⟹   ENSP00000414584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,518,582 - 45,531,324 (+)Ensembl
Ensembl Acc Id: ENST00000455233   ⟹   ENSP00000402963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,502,832 - 45,533,095 (+)Ensembl
Ensembl Acc Id: ENST00000460300   ⟹   ENSP00000489422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,577,039 - 45,578,434 (+)Ensembl
Ensembl Acc Id: ENST00000460538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,532,893 - 45,541,279 (+)Ensembl
Ensembl Acc Id: ENST00000465578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,533,151 - 45,535,584 (+)Ensembl
Ensembl Acc Id: ENST00000476366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,541,229 - 45,551,129 (+)Ensembl
Ensembl Acc Id: ENST00000484531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,533,781 - 45,535,431 (+)Ensembl
RefSeq Acc Id: NM_001996   ⟹   NP_001987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,563,362 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,337,906 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,918,000 (+)NCBI
T2T-CHM13v2.02245,987,730 - 46,048,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006485   ⟹   NP_006476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,565,706 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,340,245 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,920,339 (+)NCBI
T2T-CHM13v2.02245,987,730 - 46,050,571 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006486   ⟹   NP_006477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,601,135 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,375,678 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,955,744 (+)NCBI
T2T-CHM13v2.02245,987,730 - 46,085,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006487   ⟹   NP_006478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,558,712 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,333,255 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,913,349 (+)NCBI
T2T-CHM13v2.02245,987,730 - 46,043,577 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001987 (Get FASTA)   NCBI Sequence Viewer  
  NP_006476 (Get FASTA)   NCBI Sequence Viewer  
  NP_006477 (Get FASTA)   NCBI Sequence Viewer  
  NP_006478 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17099 (Get FASTA)   NCBI Sequence Viewer  
  AAG17241 (Get FASTA)   NCBI Sequence Viewer  
  AAH22497 (Get FASTA)   NCBI Sequence Viewer  
  AAK37822 (Get FASTA)   NCBI Sequence Viewer  
  AAK82945 (Get FASTA)   NCBI Sequence Viewer  
  BAC11705 (Get FASTA)   NCBI Sequence Viewer  
  BAG62463 (Get FASTA)   NCBI Sequence Viewer  
  BAH14662 (Get FASTA)   NCBI Sequence Viewer  
  BDH02287 (Get FASTA)   NCBI Sequence Viewer  
  BDH02288 (Get FASTA)   NCBI Sequence Viewer  
  CAA37770 (Get FASTA)   NCBI Sequence Viewer  
  CAA37771 (Get FASTA)   NCBI Sequence Viewer  
  CAA37772 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30871 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30872 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30873 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30874 (Get FASTA)   NCBI Sequence Viewer  
  CAJ44949 (Get FASTA)   NCBI Sequence Viewer  
  CBF57602 (Get FASTA)   NCBI Sequence Viewer  
  EAW73385 (Get FASTA)   NCBI Sequence Viewer  
  EAW73386 (Get FASTA)   NCBI Sequence Viewer  
  EAW73387 (Get FASTA)   NCBI Sequence Viewer  
  EAW73388 (Get FASTA)   NCBI Sequence Viewer  
  EAW73389 (Get FASTA)   NCBI Sequence Viewer  
  EAW73390 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262722
  ENSP00000262722.7
  ENSP00000331544
  ENSP00000331544.6
  ENSP00000342212
  ENSP00000342212.5
  ENSP00000385521.3
  ENSP00000393812
  ENSP00000393812.2
  ENSP00000395329.2
  ENSP00000401077.1
  ENSP00000402963.1
  ENSP00000404024.1
  ENSP00000414584.1
  ENSP00000415160.1
  ENSP00000415289.1
  ENSP00000489422.1
GenBank Protein P23142 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006477   ⟸   NM_006486
- Peptide Label: isoform D precursor
- UniProtKB: Q9UGR4 (UniProtKB/Swiss-Prot),   Q9UC21 (UniProtKB/Swiss-Prot),   Q9HBQ5 (UniProtKB/Swiss-Prot),   Q8TBH8 (UniProtKB/Swiss-Prot),   Q5TIC4 (UniProtKB/Swiss-Prot),   P37888 (UniProtKB/Swiss-Prot),   P23144 (UniProtKB/Swiss-Prot),   P23143 (UniProtKB/Swiss-Prot),   P23142 (UniProtKB/Swiss-Prot),   B1AHL4 (UniProtKB/Swiss-Prot),   B0QY42 (UniProtKB/Swiss-Prot),   Q9UH41 (UniProtKB/Swiss-Prot),   Q8NBH6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006476   ⟸   NM_006485
- Peptide Label: isoform B precursor
- UniProtKB: A0A8S0MAG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001987   ⟸   NM_001996
- Peptide Label: isoform C precursor
- UniProtKB: A0A8S0LWY1 (UniProtKB/TrEMBL),   A0A8S0MAG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006478   ⟸   NM_006487
- Peptide Label: isoform A precursor
- UniProtKB: A0A8S0MAG0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000401077   ⟸   ENST00000437711
Ensembl Acc Id: ENSP00000395329   ⟸   ENST00000439835
Ensembl Acc Id: ENSP00000415289   ⟸   ENST00000411478
Ensembl Acc Id: ENSP00000415160   ⟸   ENST00000451475
Ensembl Acc Id: ENSP00000414584   ⟸   ENST00000454279
Ensembl Acc Id: ENSP00000402963   ⟸   ENST00000455233
Ensembl Acc Id: ENSP00000385521   ⟸   ENST00000402984
Ensembl Acc Id: ENSP00000393812   ⟸   ENST00000442170
Ensembl Acc Id: ENSP00000331544   ⟸   ENST00000327858
Ensembl Acc Id: ENSP00000404024   ⟸   ENST00000445110
Ensembl Acc Id: ENSP00000342212   ⟸   ENST00000340923
Ensembl Acc Id: ENSP00000262722   ⟸   ENST00000262722
Ensembl Acc Id: ENSP00000489422   ⟸   ENST00000460300
Protein Domains
Anaphylatoxin-like   EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23142-F1-model_v2 AlphaFold P23142 1-703 view protein structure

Promoters
RGD ID:6799982
Promoter ID:HG_KWN:43216
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000348697,   NM_001996,   NM_006485,   NM_006487,   OTTHUMT00000322287,   OTTHUMT00000322291,   OTTHUMT00000322292,   OTTHUMT00000322293,   OTTHUMT00000322294,   UC010GZZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362244,277,021 - 44,277,522 (+)MPROMDB
RGD ID:13604418
Promoter ID:EPDNEW_H28393
Type:initiation region
Name:FBLN1_1
Description:fibulin 1
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
GRCh382245,502,883 - 45,502,943EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3600 AgrOrtholog
COSMIC FBLN1 COSMIC
Ensembl Genes ENSG00000077942 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262722 ENTREZGENE
  ENST00000262722.11 UniProtKB/Swiss-Prot
  ENST00000327858 ENTREZGENE
  ENST00000327858.11 UniProtKB/Swiss-Prot
  ENST00000340923 ENTREZGENE
  ENST00000340923.9 UniProtKB/Swiss-Prot
  ENST00000402984.7 UniProtKB/TrEMBL
  ENST00000411478.5 UniProtKB/TrEMBL
  ENST00000437711.1 UniProtKB/TrEMBL
  ENST00000439835.1 UniProtKB/TrEMBL
  ENST00000442170 ENTREZGENE
  ENST00000442170.6 UniProtKB/Swiss-Prot
  ENST00000445110.5 UniProtKB/TrEMBL
  ENST00000451475.5 UniProtKB/TrEMBL
  ENST00000454279.5 UniProtKB/TrEMBL
  ENST00000455233.5 UniProtKB/TrEMBL
  ENST00000460300.2 UniProtKB/TrEMBL
Gene3D-CATH Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000077942 GTEx
HGNC ID HGNC:3600 ENTREZGENE
Human Proteome Map FBLN1 Human Proteome Map
InterPro Anaphylatoxin/fibulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibulin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nephronectin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOTCH1_EGF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2192 ENTREZGENE
OMIM 135820 OMIM
PANTHER FIBRILLIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FIBULIN-1 UniProtKB/TrEMBL
  PA14 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28013 PharmGKB
PIRSF Fibulin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANAPHYLATOXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAPHYLATOXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RRA4_HUMAN UniProtKB/TrEMBL
  A0A8S0LWY1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8S0MAG0 ENTREZGENE, UniProtKB/TrEMBL
  B0QY42 ENTREZGENE
  B1AHL2_HUMAN UniProtKB/TrEMBL
  B1AHL4 ENTREZGENE
  B1AHM5_HUMAN UniProtKB/TrEMBL
  B1AHM6_HUMAN UniProtKB/TrEMBL
  B1AHM7_HUMAN UniProtKB/TrEMBL
  B1AHM8_HUMAN UniProtKB/TrEMBL
  B1AHM9_HUMAN UniProtKB/TrEMBL
  B1AHN3_HUMAN UniProtKB/TrEMBL
  FBLN1_HUMAN UniProtKB/Swiss-Prot
  H7C1M6_HUMAN UniProtKB/TrEMBL
  P23142 ENTREZGENE
  P23143 ENTREZGENE
  P23144 ENTREZGENE
  P37888 ENTREZGENE
  Q5TIC4 ENTREZGENE
  Q8NBH6 ENTREZGENE, UniProtKB/TrEMBL
  Q8TBH8 ENTREZGENE
  Q9HBQ5 ENTREZGENE
  Q9UC21 ENTREZGENE
  Q9UGR4 ENTREZGENE
  Q9UH41 ENTREZGENE
UniProt Secondary B0QY42 UniProtKB/Swiss-Prot
  B1AHL4 UniProtKB/Swiss-Prot
  C9JMQ3 UniProtKB/TrEMBL
  P23143 UniProtKB/Swiss-Prot
  P23144 UniProtKB/Swiss-Prot
  P37888 UniProtKB/Swiss-Prot
  Q5TIC4 UniProtKB/Swiss-Prot
  Q8TBH8 UniProtKB/Swiss-Prot
  Q9HBQ5 UniProtKB/Swiss-Prot
  Q9UC21 UniProtKB/Swiss-Prot
  Q9UGR4 UniProtKB/Swiss-Prot
  Q9UH41 UniProtKB/Swiss-Prot