FBLN5 (fibulin 5) - Rat Genome Database

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Gene: FBLN5 (fibulin 5) Homo sapiens
Analyze
Symbol: FBLN5
Name: fibulin 5
RGD ID: 736145
HGNC Page HGNC:3602
Description: Enables protein homodimerization activity. Involved in elastic fiber assembly and secretion. Located in collagen-containing extracellular matrix. Implicated in Charcot-Marie-Tooth disease; age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; developmental arteries and neural crest EGF-like protein; developmental arteries and neural crest epidermal growth factor-like; EVEC; FIBL-5; fibulin-5; FLJ90059; HNARMD; testis tissue sperm-binding protein Li 75n; UP50; urine p50 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381491,869,411 - 91,947,694 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1491,869,411 - 91,947,987 (-)EnsemblGRCh38hg38GRCh38
GRCh371492,335,755 - 92,414,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361491,405,508 - 91,483,788 (-)NCBINCBI36Build 36hg18NCBI36
Build 341491,405,508 - 91,483,788NCBI
Celera1472,388,374 - 72,466,655 (-)NCBICelera
Cytogenetic Map14q32.12NCBI
HuRef1472,516,509 - 72,594,687 (-)NCBIHuRef
CHM1_11492,273,834 - 92,352,362 (-)NCBICHM1_1
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-Nitrobenzanthrone  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-Hydroxybenzophenone  (ISO)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
carmustine  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
furan  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
methapyrilene  (EXP)
methotrexate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
phosgene  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP)
propanal  (EXP)
pyrethrins  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (ISO)
thioacetamide  (ISO)
tioguanine  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac ventricular function  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cheek morphology  (IAGP)
Abnormal curvature of the vertebral column  (IAGP)
Abnormal cutaneous elastic fiber morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal systemic arterial morphology  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the thoracic cavity  (IAGP)
Absent patellar reflexes  (IAGP)
Adducted thumb  (IAGP)
Adult onset  (IAGP)
Aortic aneurysm  (IAGP)
Aortic regurgitation  (IAGP)
Arachnodactyly  (IAGP)
Ascending tubular aorta aneurysm  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bladder diverticulum  (IAGP)
Brisk reflexes  (IAGP)
Broad forehead  (IAGP)
Bronchiectasis  (IAGP)
Bronchiolitis  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Choroidal neovascularization  (IAGP)
Coarctation of aorta  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Corneal opacity  (IAGP)
Cutis laxa  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased patellar reflex  (IAGP)
Delayed cranial suture closure  (IAGP)
Dermal translucency  (IAGP)
Dermatochalasis  (IAGP)
Developmental cataract  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb amyotrophy  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drusen  (IAGP)
Dystonia  (IAGP)
Emphysema  (IAGP)
Feeding difficulties  (IAGP)
Fragmented elastic fibers in the dermis  (IAGP)
Genu recurvatum  (IAGP)
Global developmental delay  (IAGP)
Hernia  (IAGP)
Hip dislocation  (IAGP)
Hyperextensible skin  (IAGP)
Hypotonia  (IAGP)
Increased number of skin folds  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Joint subluxation  (IAGP)
Lack of skin elasticity  (IAGP)
Late onset  (IAGP)
Low-set ears  (IAGP)
Macular degeneration  (IAGP)
Microcephaly  (IAGP)
Middle age onset  (IAGP)
Mitral regurgitation  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Motor delay  (IAGP)
Multiple bladder diverticula  (IAGP)
Oligohydramnios  (IAGP)
Osteopenia  (IAGP)
Overgrowth  (IAGP)
Pathologic fracture  (IAGP)
Pectus excavatum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Poor wound healing  (IAGP)
Postnatal growth retardation  (IAGP)
Premature skin wrinkling  (IAGP)
Prematurely aged appearance  (IAGP)
Prominent forehead  (IAGP)
Protruding ear  (IAGP)
Proximal spinal muscular atrophy  (IAGP)
Ptosis  (IAGP)
Pyelonephritis  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant neck skin  (IAGP)
Redundant skin  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dystrophy  (IAGP)
Scoliosis  (IAGP)
Severe short stature  (IAGP)
Small bowel diverticula  (IAGP)
Small foramen magnum  (IAGP)
Strabismus  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Talipes calcaneovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Tip-toe gait  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Unilateral renal agenesis  (IAGP)
Urethral diverticulum  (IAGP)
Vascular dilatation  (IAGP)
Vascular tortuosity  (IAGP)
Vesicoureteral reflux  (IAGP)
Vomiting  (IAGP)
Wide anterior fontanel  (IAGP)
Wormian bones  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Loeys B, etal., Hum Mol Genet 2002 Sep 1;11(18):2113-8.
3. DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. Nakamura T, etal., J Biol Chem 1999 Aug 6;274(32):22476-83.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. Yanagisawa H, etal., Nature 2002 Jan 10;415(6868):168-71.
Additional References at PubMed
PMID:10640802   PMID:11549288   PMID:11805835   PMID:12111551   PMID:12477932   PMID:12618961   PMID:12975309   PMID:14702039   PMID:14745449   PMID:15269314   PMID:15342556   PMID:15489334  
PMID:15528465   PMID:15790312   PMID:16153447   PMID:16303743   PMID:16344560   PMID:16374472   PMID:16691202   PMID:16713569   PMID:16837650   PMID:16904068   PMID:17035250   PMID:17255108  
PMID:17371835   PMID:17472576   PMID:17581631   PMID:18029348   PMID:18185537   PMID:18222970   PMID:18341572   PMID:18391951   PMID:18985028   PMID:18989607   PMID:19015224   PMID:19167375  
PMID:19194475   PMID:19251763   PMID:19349279   PMID:19450918   PMID:19570982   PMID:19617354   PMID:19767220   PMID:19862539   PMID:19948975   PMID:19957551   PMID:20007835   PMID:20133342  
PMID:20201926   PMID:20301756   PMID:20379614   PMID:20546612   PMID:20551380   PMID:20599547   PMID:20599731   PMID:21122382   PMID:21193390   PMID:21290250   PMID:21301993   PMID:21454378  
PMID:21519142   PMID:21576112   PMID:21653829   PMID:21873635   PMID:22280367   PMID:22487196   PMID:22685266   PMID:22790990   PMID:22829427   PMID:22990118   PMID:23376485   PMID:23443559  
PMID:23533145   PMID:23782690   PMID:24148803   PMID:24917111   PMID:24990664   PMID:25037231   PMID:25118846   PMID:25429064   PMID:25494879   PMID:25684523   PMID:25792650   PMID:25807371  
PMID:25845228   PMID:25891043   PMID:25909283   PMID:25910212   PMID:26095157   PMID:26251522   PMID:26494967   PMID:26506560   PMID:26577699   PMID:26891749   PMID:27068509   PMID:27089918  
PMID:27106135   PMID:27304216   PMID:27692634   PMID:28332470   PMID:28514442   PMID:28675934   PMID:28942149   PMID:29479873   PMID:29729708   PMID:30305430   PMID:30640789   PMID:31148262  
PMID:31267705   PMID:31270287   PMID:31270553   PMID:31358954   PMID:31489966   PMID:31663514   PMID:32296183   PMID:32353859   PMID:32495858   PMID:32513696   PMID:32638975   PMID:32757322  
PMID:32814053   PMID:32901854   PMID:33060197   PMID:33961781   PMID:34274450   PMID:34736163   PMID:35312591   PMID:35543375   PMID:35696571   PMID:36794549   PMID:37608663   PMID:37864183  


Genomics

Comparative Map Data
FBLN5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381491,869,411 - 91,947,694 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1491,869,411 - 91,947,987 (-)EnsemblGRCh38hg38GRCh38
GRCh371492,335,755 - 92,414,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361491,405,508 - 91,483,788 (-)NCBINCBI36Build 36hg18NCBI36
Build 341491,405,508 - 91,483,788NCBI
Celera1472,388,374 - 72,466,655 (-)NCBICelera
Cytogenetic Map14q32.12NCBI
HuRef1472,516,509 - 72,594,687 (-)NCBIHuRef
CHM1_11492,273,834 - 92,352,362 (-)NCBICHM1_1
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBIT2T-CHM13v2.0
Fbln5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912101,712,820 - 101,785,541 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12101,712,824 - 101,785,314 (-)EnsemblGRCm39 Ensembl
GRCm3812101,746,565 - 101,819,119 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12101,746,565 - 101,819,055 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712102,984,775 - 103,057,265 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612102,147,615 - 102,228,101 (-)NCBIMGSCv36mm8
Celera12102,955,562 - 103,028,678 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1251.29NCBI
Fbln5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86126,664,100 - 126,742,847 (-)NCBIGRCr8
mRatBN7.26120,899,219 - 120,977,829 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6120,899,224 - 120,977,755 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6121,049,874 - 121,128,342 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06121,346,562 - 121,425,038 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06120,681,448 - 120,759,930 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06125,644,797 - 125,723,957 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6125,644,804 - 125,723,944 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06134,856,694 - 134,935,853 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46126,018,541 - 126,098,234 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16126,022,288 - 126,102,052 (-)NCBI
Celera6118,399,373 - 118,476,665 (-)NCBICelera
Cytogenetic Map6q32NCBI
Fbln5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543814,071,410 - 14,145,070 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543814,073,927 - 14,144,644 (-)NCBIChiLan1.0ChiLan1.0
FBLN5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21593,027,865 - 93,106,837 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11492,244,375 - 92,323,347 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01472,504,240 - 72,583,160 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11491,848,430 - 91,927,470 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1491,848,430 - 91,927,304 (-)Ensemblpanpan1.1panPan2
FBLN5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.181,162,203 - 1,231,809 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl81,162,923 - 1,231,719 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha81,181,396 - 1,250,913 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.081,211,329 - 1,280,901 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl81,211,330 - 1,280,859 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.181,149,346 - 1,218,919 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.081,105,810 - 1,175,344 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.081,226,613 - 1,296,196 (-)NCBIUU_Cfam_GSD_1.0
Fbln5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864013,257,820 - 13,330,662 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936733137,207 - 209,473 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936733136,374 - 200,106 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBLN5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7113,423,632 - 113,512,198 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17113,423,629 - 113,526,412 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27120,031,698 - 120,120,256 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FBLN5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12469,626,498 - 69,703,146 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2469,626,339 - 69,703,108 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605356,876,363 - 56,952,959 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbln5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473410,768,751 - 10,843,654 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473410,768,920 - 10,840,740 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBLN5
402 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FBLN5, 483-BP DUP duplication Cutis laxa, autosomal dominant 2 [RCV000005810] Chr14:14q32.1 pathogenic
NM_006329.4(FBLN5):c.620-7del deletion not provided [RCV001571787] Chr14:91887319 [GRCh38]
Chr14:92353663 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) single nucleotide variant Cutis laxa, autosomal dominant [RCV003447068]|Cutis laxa, autosomal recessive, type 1A [RCV000005809] Chr14:91887253 [GRCh38]
Chr14:92353597 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu) single nucleotide variant Age-related macular degeneration [RCV003447069]|Macular degeneration, age-related, 3 [RCV000005811]|not provided [RCV001851678] Chr14:91937148 [GRCh38]
Chr14:92403492 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) single nucleotide variant Age-related macular degeneration [RCV003447070]|Macular degeneration, age-related, 3 [RCV000005812]|not provided [RCV001851679] Chr14:91937114 [GRCh38]
Chr14:92403458 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser) single nucleotide variant Age-related macular degeneration [RCV003447071]|Macular degeneration, age-related, 3 [RCV000005813] Chr14:91937067 [GRCh38]
Chr14:92403411 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr) single nucleotide variant Age-related macular degeneration [RCV003447072]|Macular degeneration, age-related, 3 [RCV000005814] Chr14:91891334 [GRCh38]
Chr14:92357678 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) single nucleotide variant Age-related macular degeneration [RCV003447073]|Cutis laxa [RCV001119789]|Macular degeneration, age-related, 3 [RCV000005815]|Macular degeneration, age-related, 3 [RCV002490323]|See cases [RCV002251883]|not provided [RCV001577844] Chr14:91877621 [GRCh38]
Chr14:92343965 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) single nucleotide variant Age-related macular degeneration [RCV003447074]|Macular degeneration, age-related, 3 [RCV000005816]|not provided [RCV001851680] Chr14:91877585 [GRCh38]
Chr14:92343929 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu) single nucleotide variant Age-related macular degeneration [RCV003447075]|Macular degeneration, age-related, 3 [RCV000005817]|not provided [RCV002512815] Chr14:91870336 [GRCh38]
Chr14:92336680 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000020638] Chr14:91877582 [GRCh38]
Chr14:92343926 [GRCh37]
Chr14:14q32.12
benign|not provided
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) single nucleotide variant Cutis laxa, autosomal dominant [RCV003447087]|Cutis laxa, autosomal recessive, type 1A [RCV000020639] Chr14:91877501 [GRCh38]
Chr14:92343845 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.3(FBLN5):c.380-9061_873dup duplication Cutis laxa, autosomal dominant 2 [RCV000005810] Chr14:91881408..91904133 [GRCh38]
Chr14:92347752..92370477 [GRCh37]
Chr14:14q32.12
pathogenic
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) single nucleotide variant Cutis laxa [RCV000375520]|Cutis laxa, autosomal dominant [RCV003447088]|Cutis laxa, autosomal recessive, type 1A [RCV000020641]|Macular degeneration, age-related, 3 [RCV000316304]|not provided [RCV000427840] Chr14:91891236 [GRCh38]
Chr14:92357580 [GRCh37]
Chr14:14q32.12
pathogenic|likely benign|uncertain significance|not provided
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) single nucleotide variant Cutis laxa, autosomal dominant [RCV003447089]|Cutis laxa, autosomal recessive, type 1A [RCV000020642] Chr14:91887283 [GRCh38]
Chr14:92353627 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 copy number loss See cases [RCV000051551] Chr14:90255156..95274696 [GRCh38]
Chr14:90721500..95741033 [GRCh37]
Chr14:89791253..94810786 [NCBI36]
Chr14:14q32.11-32.13
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
NM_006329.3(FBLN5):c.1158G>A (p.Gly386=) single nucleotide variant Malignant melanoma [RCV000070654] Chr14:91877514 [GRCh38]
Chr14:92343858 [GRCh37]
Chr14:91413611 [NCBI36]
Chr14:14q32.12
not provided
NM_006329.3(FBLN5):c.1098C>T (p.Phe366=) single nucleotide variant Malignant melanoma [RCV000070655] Chr14:91877574 [GRCh38]
Chr14:92343918 [GRCh37]
Chr14:91413671 [NCBI36]
Chr14:14q32.12
not provided
NM_006329.4(FBLN5):c.731A>G (p.His244Arg) single nucleotide variant not provided [RCV001813047] Chr14:91887201 [GRCh38]
Chr14:92353545 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) single nucleotide variant Age-related macular degeneration [RCV003447321]|Cutis laxa, autosomal dominant 2 [RCV001331565]|not provided [RCV001865743] Chr14:91937183 [GRCh38]
Chr14:92403527 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843304]|Cutis laxa [RCV000405354]|Macular degeneration, age-related, 3 [RCV000202603]|not provided [RCV000584853] Chr14:91936950 [GRCh38]
Chr14:92403294 [GRCh37]
Chr14:14q32.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843303]|Cutis laxa [RCV001121879]|Cutis laxa, autosomal recessive, type 1A [RCV001249315]|Hereditary sensorimotor neuropathy with hyperelastic skin [RCV003447125]|Macular degeneration, age-related, 3 [RCV000202614]|not provided [RCV000521928] Chr14:91937058 [GRCh38]
Chr14:92403402 [GRCh37]
Chr14:14q32.12
pathogenic|benign|likely benign|uncertain significance|not provided
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843302]|Hereditary sensorimotor neuropathy with hyperelastic skin [RCV003447124]|not provided [RCV000756132] Chr14:91877555 [GRCh38]
Chr14:92343899 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) single nucleotide variant Cutis laxa [RCV000403489]|Cutis laxa, autosomal dominant 2 [RCV001701769]|Cutis laxa, autosomal recessive, type 1A [RCV001701618]|Macular degeneration, age-related, 3 [RCV000336959]|not provided [RCV002055972]|not specified [RCV000150685] Chr14:91881336 [GRCh38]
Chr14:92347680 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.989+13G>A single nucleotide variant Cutis laxa [RCV000335950]|Macular degeneration, age-related, 3 [RCV000285676]|not provided [RCV001812121]|not specified [RCV000150690] Chr14:91881279 [GRCh38]
Chr14:92347623 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.863-13C>T single nucleotide variant Cutis laxa [RCV000351829]|Macular degeneration, age-related, 3 [RCV000292240]|not provided [RCV001812122]|not specified [RCV000150691] Chr14:91881431 [GRCh38]
Chr14:92347775 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) single nucleotide variant Cutis laxa [RCV000264837]|Macular degeneration, age-related, 3 [RCV000324728]|not provided [RCV000390841] Chr14:91887311 [GRCh38]
Chr14:92353655 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006329.4(FBLN5):c.620-8T>C single nucleotide variant Cutis laxa [RCV000261122]|Macular degeneration, age-related, 3 [RCV000360743]|not provided [RCV000883402]|not specified [RCV000218744] Chr14:91887320 [GRCh38]
Chr14:92353664 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_006329.4(FBLN5):c.989+9C>T single nucleotide variant Cutis laxa [RCV000371742]|Macular degeneration, age-related, 3 [RCV000281897]|not provided [RCV000980663] Chr14:91881283 [GRCh38]
Chr14:92347627 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) single nucleotide variant Cutis Laxa, Dominant/Recessive [RCV000361075]|Inborn genetic diseases [RCV002522340]|Macular degeneration [RCV000303754]|not provided [RCV001555554]|not specified [RCV000611423] Chr14:91937102 [GRCh38]
Chr14:92403446 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) single nucleotide variant Cutis laxa [RCV000325555]|Macular degeneration, age-related, 3 [RCV000270558]|not provided [RCV000910443] Chr14:91870380 [GRCh38]
Chr14:92336724 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) single nucleotide variant Cutis laxa [RCV000384748]|Macular degeneration, age-related, 3 [RCV000271644]|not provided [RCV001705473]|not specified [RCV000440919] Chr14:91877550 [GRCh38]
Chr14:92343894 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.-458G>A single nucleotide variant Cutis laxa [RCV000368378]|Macular degeneration, age-related, 3 [RCV000275772] Chr14:91947687 [GRCh38]
Chr14:92414031 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.-152C>T single nucleotide variant Cutis laxa [RCV000333368]|Macular degeneration, age-related, 3 [RCV000273619] Chr14:91947381 [GRCh38]
Chr14:92413725 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.*326G>A single nucleotide variant Cutis laxa [RCV000273686]|Macular degeneration, age-related, 3 [RCV000368274] Chr14:91869898 [GRCh38]
Chr14:92336242 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.-411A>G single nucleotide variant Cutis laxa [RCV000291673]|Macular degeneration, age-related, 3 [RCV000339513] Chr14:91947640 [GRCh38]
Chr14:92413984 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.*514A>G single nucleotide variant Cutis laxa [RCV000346873]|Macular degeneration, age-related, 3 [RCV000291918]|not provided [RCV001785560] Chr14:91869710 [GRCh38]
Chr14:92336054 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.*648G>A single nucleotide variant Cutis laxa [RCV000330737]|Macular degeneration, age-related, 3 [RCV000275616] Chr14:91869576 [GRCh38]
Chr14:92335920 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_006329.4(FBLN5):c.*647C>T single nucleotide variant Cutis laxa [RCV000389826]|Macular degeneration, age-related, 3 [RCV000276799] Chr14:91869577 [GRCh38]
Chr14:92335921 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.*363C>T single nucleotide variant Cutis laxa [RCV000298242]|Macular degeneration, age-related, 3 [RCV000334552] Chr14:91869861 [GRCh38]
Chr14:92336205 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.-9G>T single nucleotide variant Cutis Laxa, Dominant/Recessive [RCV000394112]|Macular degeneration [RCV000298039] Chr14:91947238 [GRCh38]
Chr14:92413582 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.-57G>A single nucleotide variant Cutis laxa [RCV000352947]|Macular degeneration, age-related, 3 [RCV000262943] Chr14:91947286 [GRCh38]
Chr14:92413630 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.*329T>C single nucleotide variant Cutis laxa [RCV000395898]|Macular degeneration, age-related, 3 [RCV000299436] Chr14:91869895 [GRCh38]
Chr14:92336239 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.502+15G>C single nucleotide variant Cutis laxa [RCV000280970]|Macular degeneration, age-related, 3 [RCV000331384]|not provided [RCV001812822]|not specified [RCV000616517] Chr14:91894935 [GRCh38]
Chr14:92361279 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) single nucleotide variant Cutis laxa [RCV000380081]|Macular degeneration, age-related, 3 [RCV000320794]|not provided [RCV000964339] Chr14:91877559 [GRCh38]
Chr14:92343903 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.*423T>C single nucleotide variant Cutis laxa [RCV000342425]|Macular degeneration, age-related, 3 [RCV000404688] Chr14:91869801 [GRCh38]
Chr14:92336145 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.-414C>T single nucleotide variant Cutis laxa [RCV000404509]|Macular degeneration, age-related, 3 [RCV000342843]|not provided [RCV000839553] Chr14:91947643 [GRCh38]
Chr14:92413987 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.*775A>C single nucleotide variant Cutis laxa [RCV000355089]|Macular degeneration, age-related, 3 [RCV000259888] Chr14:91869449 [GRCh38]
Chr14:92335793 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.*458T>C single nucleotide variant Cutis laxa [RCV000282805]|Macular degeneration, age-related, 3 [RCV000377373] Chr14:91869766 [GRCh38]
Chr14:92336110 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.*623A>T single nucleotide variant Cutis laxa [RCV000381559]|Macular degeneration, age-related, 3 [RCV000326978]|not provided [RCV001690047] Chr14:91869601 [GRCh38]
Chr14:92335945 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.862+12C>T single nucleotide variant Cutis laxa [RCV000307466]|Macular degeneration, age-related, 3 [RCV000395579]|not provided [RCV002061169] Chr14:91882942 [GRCh38]
Chr14:92349286 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) single nucleotide variant Cutis laxa [RCV000308840]|Macular degeneration, age-related, 3 [RCV000358898]|not provided [RCV001850661] Chr14:91887256 [GRCh38]
Chr14:92353600 [GRCh37]
Chr14:14q32.12
benign|uncertain significance
NM_006329.4(FBLN5):c.-441del deletion Cutis Laxa, Dominant/Recessive [RCV000311405]|Macular degeneration [RCV000397499]|not provided [RCV001533948] Chr14:91947670 [GRCh38]
Chr14:92414014 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.*98G>A single nucleotide variant Cutis laxa [RCV000369502]|Macular degeneration, age-related, 3 [RCV000314777] Chr14:91870126 [GRCh38]
Chr14:92336470 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) single nucleotide variant Cutis laxa [RCV000362359]|Macular degeneration, age-related, 3 [RCV000395642]|not provided [RCV000916009] Chr14:91887218 [GRCh38]
Chr14:92353562 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.-139C>T single nucleotide variant Cutis laxa [RCV000318082]|Macular degeneration, age-related, 3 [RCV000368194] Chr14:91947368 [GRCh38]
Chr14:92413712 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.1341A>G (p.Pro447=) single nucleotide variant not provided [RCV000917495]|not specified [RCV001729659] Chr14:91870230 [GRCh38]
Chr14:92336574 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys) single nucleotide variant Cutis laxa [RCV000348011]|Macular degeneration, age-related, 3 [RCV000394125] Chr14:91937075 [GRCh38]
Chr14:92403419 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.-413C>T single nucleotide variant Cutis laxa [RCV000285594]|Macular degeneration, age-related, 3 [RCV000377849] Chr14:91947642 [GRCh38]
Chr14:92413986 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys) single nucleotide variant Cutis laxa [RCV000386387]|Macular degeneration, age-related, 3 [RCV000296650] Chr14:91895064 [GRCh38]
Chr14:92361408 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.-428G>C single nucleotide variant Cutis laxa [RCV000298567]|Macular degeneration, age-related, 3 [RCV000336918] Chr14:91947657 [GRCh38]
Chr14:92414001 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.129T>C (p.Ile43=) single nucleotide variant not specified [RCV000605106] Chr14:91937197 [GRCh38]
Chr14:92403541 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.-382C>G single nucleotide variant Cutis laxa [RCV000387952]|Macular degeneration, age-related, 3 [RCV000288201] Chr14:91947611 [GRCh38]
Chr14:92413955 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.-389C>A single nucleotide variant Cutis laxa [RCV000383684]|Macular degeneration, age-related, 3 [RCV000326798] Chr14:91947618 [GRCh38]
Chr14:92413962 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.*653G>A single nucleotide variant Cutis laxa [RCV000300990]|Macular degeneration, age-related, 3 [RCV000355807] Chr14:91869571 [GRCh38]
Chr14:92335915 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.195G>C (p.Gly65=) single nucleotide variant not provided [RCV002531563]|not specified [RCV000607018] Chr14:91937131 [GRCh38]
Chr14:92403475 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.255_266del (p.Thr86_Ser89del) deletion not provided [RCV002524659]|not specified [RCV000413803] Chr14:91937060..91937071 [GRCh38]
Chr14:92403404..92403415 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_006329.4(FBLN5):c.1185+18G>A single nucleotide variant not specified [RCV000427998] Chr14:91877469 [GRCh38]
Chr14:92343813 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1086C>T (p.Pro362=) single nucleotide variant not provided [RCV002059978]|not specified [RCV000434996] Chr14:91877586 [GRCh38]
Chr14:92343930 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1228A>G (p.Ile410Val) single nucleotide variant Inborn genetic diseases [RCV003168677]|not provided [RCV002522387]|not specified [RCV000442080] Chr14:91870343 [GRCh38]
Chr14:92336687 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.1062C>T (p.Asp354=) single nucleotide variant not provided [RCV001696838] Chr14:91877610 [GRCh38]
Chr14:92343954 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) single nucleotide variant Macular degeneration, age-related, 3 [RCV000477790]|not provided [RCV002525743] Chr14:91877489 [GRCh38]
Chr14:92343833 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_006329.4(FBLN5):c.277C>A (p.Pro93Thr) single nucleotide variant Inborn genetic diseases [RCV003277300] Chr14:91937049 [GRCh38]
Chr14:92403393 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.502+14G>T single nucleotide variant not provided [RCV002529655]|not specified [RCV000607590] Chr14:91894936 [GRCh38]
Chr14:92361280 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1116C>A (p.Thr372=) single nucleotide variant not provided [RCV002528659]|not specified [RCV000612471] Chr14:91877556 [GRCh38]
Chr14:92343900 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 copy number loss not provided [RCV003312295] Chr14:88401076..94725706 [GRCh37]
Chr14:14q31.3-32.13
pathogenic
NM_006329.4(FBLN5):c.862+16G>C single nucleotide variant not provided [RCV002529423]|not specified [RCV000611144] Chr14:91882938 [GRCh38]
Chr14:92349282 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.-12C>T single nucleotide variant not specified [RCV000611308] Chr14:91947241 [GRCh38]
Chr14:92413585 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.546G>A (p.Ala182=) single nucleotide variant not provided [RCV002528644]|not specified [RCV000614071] Chr14:91891294 [GRCh38]
Chr14:92357638 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.747C>T (p.Asp249=) single nucleotide variant not provided [RCV001697881] Chr14:91883069 [GRCh38]
Chr14:92349413 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.799G>A (p.Gly267Ser) single nucleotide variant Age-related macular degeneration [RCV003447149]|not provided [RCV000592441] Chr14:91883017 [GRCh38]
Chr14:92349361 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_006329.4(FBLN5):c.605G>T (p.Gly202Val) single nucleotide variant Proximal spinal muscular atrophy [RCV000664245] Chr14:91891235 [GRCh38]
Chr14:92357579 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_006329.4(FBLN5):c.1del (p.Met1fs) deletion not provided [RCV000722994] Chr14:91947229 [GRCh38]
Chr14:92413573 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33
pathogenic
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) deletion Macular degeneration, age-related, 3 [RCV000850551] Chr14:91870369..91870370 [GRCh38]
Chr14:92336713..92336714 [GRCh37]
Chr14:14q32.12
pathogenic
NM_006329.4(FBLN5):c.1186-46A>G single nucleotide variant not provided [RCV001609102] Chr14:91870431 [GRCh38]
Chr14:92336775 [GRCh37]
Chr14:14q32.12
benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_006329.4(FBLN5):c.894G>A (p.Thr298=) single nucleotide variant not provided [RCV000761892] Chr14:91881387 [GRCh38]
Chr14:92347731 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006329.4(FBLN5):c.862+276G>T single nucleotide variant not provided [RCV001574338] Chr14:91882678 [GRCh38]
Chr14:92349022 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.72+308T>C single nucleotide variant not provided [RCV001582025] Chr14:91942599 [GRCh38]
Chr14:92408943 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.726C>G (p.Gly242=) single nucleotide variant Cutis laxa [RCV001115208]|Macular degeneration, age-related, 3 [RCV001115209] Chr14:91887206 [GRCh38]
Chr14:92353550 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1334A>T (p.Gln445Leu) single nucleotide variant Retinal dystrophy [RCV001074926] Chr14:91870237 [GRCh38]
Chr14:92336581 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.619+10G>A single nucleotide variant not provided [RCV000827357] Chr14:91891211 [GRCh38]
Chr14:92357555 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.739+125C>G single nucleotide variant not provided [RCV000837410] Chr14:91887068 [GRCh38]
Chr14:92353412 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-151A>G single nucleotide variant not provided [RCV000839541] Chr14:91937352 [GRCh38]
Chr14:92403696 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-145_125-144insA insertion not provided [RCV000839542] Chr14:91937345..91937346 [GRCh38]
Chr14:92403689..92403690 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-45G>C single nucleotide variant not provided [RCV000839543] Chr14:91937246 [GRCh38]
Chr14:92403590 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.438T>C (p.Asn146=) single nucleotide variant not provided [RCV000842315] Chr14:91895014 [GRCh38]
Chr14:92361358 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.740-52C>T single nucleotide variant not provided [RCV000838333] Chr14:91883128 [GRCh38]
Chr14:92349472 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.620-306G>C single nucleotide variant not provided [RCV000843687] Chr14:91887618 [GRCh38]
Chr14:92353962 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.1318C>T (p.Arg440Trp) single nucleotide variant Inborn genetic diseases [RCV002538235]|not provided [RCV001759629]|not specified [RCV000825926] Chr14:91870253 [GRCh38]
Chr14:92336597 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.620-239T>C single nucleotide variant not provided [RCV000838723] Chr14:91887551 [GRCh38]
Chr14:92353895 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.3(FBLN5):c.-596T>G single nucleotide variant not provided [RCV000830462] Chr14:91947825 [GRCh38]
Chr14:92414169 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.646C>G (p.Pro216Ala) single nucleotide variant not provided [RCV000788255] Chr14:91887286 [GRCh38]
Chr14:92353630 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.18-87G>A single nucleotide variant not provided [RCV000839337] Chr14:91943048 [GRCh38]
Chr14:92409392 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.740-336C>T single nucleotide variant not provided [RCV000832166] Chr14:91883412 [GRCh38]
Chr14:92349756 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.3(FBLN5):c.-807A>G single nucleotide variant not provided [RCV000833316] Chr14:91948036 [GRCh38]
Chr14:92414380 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.-172del deletion not provided [RCV000837462] Chr14:91947401 [GRCh38]
Chr14:92413745 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.468C>T (p.Thr156=) single nucleotide variant not provided [RCV000827548] Chr14:91894984 [GRCh38]
Chr14:92361328 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.*426C>T single nucleotide variant Cutis laxa [RCV001119684]|Macular degeneration, age-related, 3 [RCV001119685] Chr14:91869798 [GRCh38]
Chr14:92336142 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu) single nucleotide variant Cutis laxa [RCV001118252]|Macular degeneration, age-related, 3 [RCV001118251] Chr14:91877609 [GRCh38]
Chr14:92343953 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.*121C>T single nucleotide variant Cutis laxa [RCV001116794]|Macular degeneration, age-related, 3 [RCV001116793] Chr14:91870103 [GRCh38]
Chr14:92336447 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.*77T>A single nucleotide variant Cutis laxa [RCV001116796]|Macular degeneration, age-related, 3 [RCV001116795] Chr14:91870147 [GRCh38]
Chr14:92336491 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.379+275A>G single nucleotide variant not provided [RCV000828881] Chr14:91936672 [GRCh38]
Chr14:92403016 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-274A>G single nucleotide variant not provided [RCV000843678] Chr14:91937475 [GRCh38]
Chr14:92403819 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.862+323T>C single nucleotide variant not provided [RCV000843682] Chr14:91882631 [GRCh38]
Chr14:92348975 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.989+291G>T single nucleotide variant not provided [RCV000843684] Chr14:91881001 [GRCh38]
Chr14:92347345 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.619+328G>C single nucleotide variant not provided [RCV000843685] Chr14:91890893 [GRCh38]
Chr14:92357237 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.990-274T>C single nucleotide variant not provided [RCV000843686] Chr14:91877956 [GRCh38]
Chr14:92344300 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.1186-260G>A single nucleotide variant not provided [RCV000844052] Chr14:91870645 [GRCh38]
Chr14:92336989 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.72+26T>A single nucleotide variant not provided [RCV000839315] Chr14:91942881 [GRCh38]
Chr14:92409225 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.273G>A (p.Pro91=) single nucleotide variant Cutis laxa [RCV001119892]|Macular degeneration, age-related, 3 [RCV001119893]|not provided [RCV001574532] Chr14:91937053 [GRCh38]
Chr14:92403397 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.978G>T (p.Arg326Ser) single nucleotide variant not provided [RCV001090628] Chr14:91881303 [GRCh38]
Chr14:92347647 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.-77C>G single nucleotide variant Cutis laxa [RCV001115305]|Macular degeneration, age-related, 3 [RCV001115304] Chr14:91947306 [GRCh38]
Chr14:92413650 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.-1C>T single nucleotide variant not provided [RCV000995241] Chr14:91947230 [GRCh38]
Chr14:92413574 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.739+14G>A single nucleotide variant Cutis laxa, autosomal dominant 2 [RCV001196331]|not provided [RCV002560220] Chr14:91887179 [GRCh38]
Chr14:92353523 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.314C>T (p.Pro105Leu) single nucleotide variant Inborn genetic diseases [RCV003273852] Chr14:91937012 [GRCh38]
Chr14:92403356 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.573A>G (p.Thr191=) single nucleotide variant Cutis laxa [RCV001118353]|Macular degeneration, age-related, 3 [RCV001118352]|not provided [RCV002069913] Chr14:91891267 [GRCh38]
Chr14:92357611 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val) single nucleotide variant Cutis laxa, autosomal dominant 2 [RCV001195769] Chr14:91877542 [GRCh38]
Chr14:92343886 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) single nucleotide variant Cutis laxa [RCV001116798]|Macular degeneration, age-related, 3 [RCV001116797]|not provided [RCV001856533] Chr14:91870330 [GRCh38]
Chr14:92336674 [GRCh37]
Chr14:14q32.12
benign|uncertain significance
NM_006329.4(FBLN5):c.1331C>T (p.Ser444Leu) single nucleotide variant not provided [RCV001090627] Chr14:91870240 [GRCh38]
Chr14:92336584 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.843T>G (p.Asp281Glu) single nucleotide variant Inborn genetic diseases [RCV003290966] Chr14:91882973 [GRCh38]
Chr14:92349317 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.502+280G>A single nucleotide variant not provided [RCV001566755] Chr14:91894670 [GRCh38]
Chr14:92361014 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.990-218A>G single nucleotide variant not provided [RCV001666228] Chr14:91877900 [GRCh38]
Chr14:92344244 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.502+45G>A single nucleotide variant not provided [RCV001554882] Chr14:91894905 [GRCh38]
Chr14:92361249 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.124+250G>C single nucleotide variant not provided [RCV001561539] Chr14:91940315 [GRCh38]
Chr14:92406659 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.619+330A>G single nucleotide variant not provided [RCV001556810] Chr14:91890891 [GRCh38]
Chr14:92357235 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+138GT[15] microsatellite not provided [RCV001620174] Chr14:91881121..91881124 [GRCh38]
Chr14:92347465..92347468 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.727G>A (p.Val243Ile) single nucleotide variant not provided [RCV001557673] Chr14:91887205 [GRCh38]
Chr14:92353549 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.380-138del deletion not provided [RCV001562955] Chr14:91895210 [GRCh38]
Chr14:92361554 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1093A>G (p.Ile365Val) single nucleotide variant not provided [RCV001557879] Chr14:91877579 [GRCh38]
Chr14:92343923 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.125-138C>G single nucleotide variant not provided [RCV001558476] Chr14:91937339 [GRCh38]
Chr14:92403683 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.851G>A (p.Arg284Gln) single nucleotide variant not provided [RCV001541352] Chr14:91882965 [GRCh38]
Chr14:92349309 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.990-6C>T single nucleotide variant not provided [RCV000900286] Chr14:91877688 [GRCh38]
Chr14:92344032 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.124+123T>C single nucleotide variant not provided [RCV001561941] Chr14:91940442 [GRCh38]
Chr14:92406786 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.17+158T>A single nucleotide variant not provided [RCV001541020] Chr14:91947055 [GRCh38]
Chr14:92413399 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.989+138GT[20] microsatellite not provided [RCV001556806] Chr14:91881120..91881121 [GRCh38]
Chr14:92347464..92347465 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.471C>T (p.Asp157=) single nucleotide variant not provided [RCV001557520] Chr14:91894981 [GRCh38]
Chr14:92361325 [GRCh37]
Chr14:14q32.12
likely benign
NC_000014.9:g.91947959C>A single nucleotide variant not provided [RCV001575571] Chr14:91947959 [GRCh38]
Chr14:92414303 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp) single nucleotide variant Cutis laxa, autosomal dominant [RCV003447332]|Cutis laxa, autosomal recessive, type 1A [RCV002470173] Chr14:91895020 [GRCh38]
Chr14:92361364 [GRCh37]
Chr14:14q32.12
uncertain significance|not provided
NM_006329.4(FBLN5):c.989+138GT[11] microsatellite not provided [RCV001560115] Chr14:91881121..91881132 [GRCh38]
Chr14:92347465..92347476 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-32C>T single nucleotide variant not provided [RCV001549761] Chr14:91937233 [GRCh38]
Chr14:92403577 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+157_989+158insTA insertion not provided [RCV001678317] Chr14:91881134..91881135 [GRCh38]
Chr14:92347478..92347479 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.502+66G>A single nucleotide variant not provided [RCV001576201] Chr14:91894884 [GRCh38]
Chr14:92361228 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+159_989+165del deletion not provided [RCV001636532] Chr14:91881127..91881133 [GRCh38]
Chr14:92347471..92347477 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.18-28A>G single nucleotide variant not provided [RCV001608301] Chr14:91942989 [GRCh38]
Chr14:92409333 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.18-219A>G single nucleotide variant not provided [RCV001717621] Chr14:91943180 [GRCh38]
Chr14:92409524 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.989+165del deletion not provided [RCV001621771] Chr14:91881127 [GRCh38]
Chr14:92347471 [GRCh37]
Chr14:14q32.12
benign
NC_000014.9:g.91947760GGGGC[4] microsatellite not provided [RCV001593594] Chr14:91947759..91947760 [GRCh38]
Chr14:92414103..92414104 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+138GT[16] microsatellite not provided [RCV001536832] Chr14:91881121..91881122 [GRCh38]
Chr14:92347465..92347466 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.863-209del deletion not provided [RCV001678140] Chr14:91881627 [GRCh38]
Chr14:92347971 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.72+148A>G single nucleotide variant not provided [RCV001717622] Chr14:91942759 [GRCh38]
Chr14:92409103 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.1185+67G>A single nucleotide variant not provided [RCV001718258] Chr14:91877420 [GRCh38]
Chr14:92343764 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.989+146G>A single nucleotide variant not provided [RCV001717577] Chr14:91881146 [GRCh38]
Chr14:92347490 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.990-223A>C single nucleotide variant not provided [RCV001658565] Chr14:91877905 [GRCh38]
Chr14:92344249 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.889C>G (p.His297Asp) single nucleotide variant Peripheral axonal neuropathy [RCV001007475]|not provided [RCV001860575] Chr14:91881392 [GRCh38]
Chr14:92347736 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) single nucleotide variant Cutis laxa [RCV001121773]|Cutis laxa, autosomal dominant [RCV003447317]|Macular degeneration, age-related, 3 [RCV001121772]|not provided [RCV001562423] Chr14:91881380 [GRCh38]
Chr14:92347724 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.*419G>C single nucleotide variant Cutis laxa [RCV001121669]|Macular degeneration, age-related, 3 [RCV001121670] Chr14:91869805 [GRCh38]
Chr14:92336149 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.989+167del deletion not provided [RCV001680712] Chr14:91881125 [GRCh38]
Chr14:92347469 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.620-135C>T single nucleotide variant not provided [RCV001537087] Chr14:91887447 [GRCh38]
Chr14:92353791 [GRCh37]
Chr14:14q32.12
likely benign
NC_000014.9:g.91947724dup duplication not provided [RCV001589785] Chr14:91947719..91947720 [GRCh38]
Chr14:92414063..92414064 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met) single nucleotide variant Cutis laxa [RCV001119890]|Macular degeneration, age-related, 3 [RCV001119891] Chr14:91936990 [GRCh38]
Chr14:92403334 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.124+8C>A single nucleotide variant Cutis laxa [RCV001121880]|Macular degeneration, age-related, 3 [RCV001121881] Chr14:91940557 [GRCh38]
Chr14:92406901 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.893C>G (p.Thr298Arg) single nucleotide variant not provided [RCV001090629] Chr14:91881388 [GRCh38]
Chr14:92347732 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) single nucleotide variant Cutis laxa, autosomal dominant 2 [RCV001262892] Chr14:91895030 [GRCh38]
Chr14:92361374 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.379+1G>C single nucleotide variant Cutis laxa, autosomal dominant 2 [RCV001334533] Chr14:91936946 [GRCh38]
Chr14:92403290 [GRCh37]
Chr14:14q32.12
pathogenic
NM_006329.4(FBLN5):c.735C>T (p.Cys245=) single nucleotide variant not provided [RCV001310716] Chr14:91887197 [GRCh38]
Chr14:92353541 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu) single nucleotide variant Cutis laxa, autosomal dominant 2 [RCV001334532]|not provided [RCV002546686] Chr14:91870264 [GRCh38]
Chr14:92336608 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV001290131] Chr14:91877538 [GRCh38]
Chr14:92343882 [GRCh37]
Chr14:14q32.12
pathogenic
NM_006329.4(FBLN5):c.652G>A (p.Val218Met) single nucleotide variant Inborn genetic diseases [RCV002564217]|not provided [RCV001507852] Chr14:91887280 [GRCh38]
Chr14:92353624 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) single nucleotide variant Macular degeneration, age-related, 3 [RCV001526878]|Macular degeneration, age-related, 3 [RCV002476839] Chr14:91937081 [GRCh38]
Chr14:92403425 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter) single nucleotide variant Cutis laxa, autosomal dominant [RCV003447324]|not provided [RCV001507851] Chr14:91882966 [GRCh38]
Chr14:92349310 [GRCh37]
Chr14:14q32.12
likely pathogenic|uncertain significance
NM_006329.4(FBLN5):c.127A>G (p.Ile43Val) single nucleotide variant Inborn genetic diseases [RCV002567979]|not provided [RCV001507853] Chr14:91937199 [GRCh38]
Chr14:92403543 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.-2A>T single nucleotide variant not provided [RCV001586154] Chr14:91947231 [GRCh38]
Chr14:92413575 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.692G>A (p.Arg231His) single nucleotide variant not provided [RCV001593537] Chr14:91887240 [GRCh38]
Chr14:92353584 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.125-115A>G single nucleotide variant not provided [RCV001643953] Chr14:91937316 [GRCh38]
Chr14:92403660 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.990-3C>T single nucleotide variant not provided [RCV001588092] Chr14:91877685 [GRCh38]
Chr14:92344029 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity
NM_006329.4(FBLN5):c.229C>T (p.Arg77Ter) single nucleotide variant not provided [RCV001755278] Chr14:91937097 [GRCh38]
Chr14:92403441 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1084C>T (p.Pro362Ser) single nucleotide variant not provided [RCV001755270] Chr14:91877588 [GRCh38]
Chr14:92343932 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.167A>C (p.Asp56Ala) single nucleotide variant not provided [RCV001768207] Chr14:91937159 [GRCh38]
Chr14:92403503 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.341G>A (p.Arg114His) single nucleotide variant Inborn genetic diseases [RCV002540644]|not provided [RCV001774858] Chr14:91936985 [GRCh38]
Chr14:92403329 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1174T>C (p.Phe392Leu) single nucleotide variant not provided [RCV001776370] Chr14:91877498 [GRCh38]
Chr14:92343842 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.882C>G (p.His294Gln) single nucleotide variant not provided [RCV001776513] Chr14:91881399 [GRCh38]
Chr14:92347743 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1090G>A (p.Asp364Asn) single nucleotide variant not provided [RCV001759051] Chr14:91877582 [GRCh38]
Chr14:92343926 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1002T>C (p.Cys334=) single nucleotide variant not provided [RCV001815768] Chr14:91877670 [GRCh38]
Chr14:92344014 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1256A>G (p.Asp419Gly) single nucleotide variant not provided [RCV001888910] Chr14:91870315 [GRCh38]
Chr14:92336659 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.707A>T (p.Tyr236Phe) single nucleotide variant not provided [RCV001964091] Chr14:91887225 [GRCh38]
Chr14:92353569 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.16A>T (p.Arg6Trp) single nucleotide variant not provided [RCV001896048] Chr14:91947214 [GRCh38]
Chr14:92413558 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.545C>T (p.Ala182Val) single nucleotide variant not provided [RCV001967960] Chr14:91891295 [GRCh38]
Chr14:92357639 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1323A>G (p.Ile441Met) single nucleotide variant not provided [RCV002024827] Chr14:91870248 [GRCh38]
Chr14:92336592 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1076G>C (p.Arg359Pro) single nucleotide variant not provided [RCV001913980] Chr14:91877596 [GRCh38]
Chr14:92343940 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.736A>G (p.Ser246Gly) single nucleotide variant not provided [RCV001970950] Chr14:91887196 [GRCh38]
Chr14:92353540 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.87T>A (p.Asn29Lys) single nucleotide variant not provided [RCV001929819] Chr14:91940602 [GRCh38]
Chr14:92406946 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.532C>G (p.Gln178Glu) single nucleotide variant not provided [RCV001987556] Chr14:91891308 [GRCh38]
Chr14:92357652 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1067T>C (p.Val356Ala) single nucleotide variant not provided [RCV001893369] Chr14:91877605 [GRCh38]
Chr14:92343949 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.664G>A (p.Val222Ile) single nucleotide variant not provided [RCV001965642] Chr14:91887268 [GRCh38]
Chr14:92353612 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1262A>C (p.Glu421Ala) single nucleotide variant not provided [RCV002021788] Chr14:91870309 [GRCh38]
Chr14:92336653 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.313C>A (p.Pro105Thr) single nucleotide variant not provided [RCV001909800] Chr14:91937013 [GRCh38]
Chr14:92403357 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.985G>A (p.Asp329Asn) single nucleotide variant not provided [RCV001894050] Chr14:91881296 [GRCh38]
Chr14:92347640 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.317C>T (p.Thr106Met) single nucleotide variant not provided [RCV001893422] Chr14:91937009 [GRCh38]
Chr14:92403353 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1040C>T (p.Thr347Ile) single nucleotide variant not provided [RCV001892053] Chr14:91877632 [GRCh38]
Chr14:92343976 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.956G>A (p.Arg319His) single nucleotide variant not provided [RCV002039546] Chr14:91881325 [GRCh38]
Chr14:92347669 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.646C>T (p.Pro216Ser) single nucleotide variant Inborn genetic diseases [RCV003250435]|not provided [RCV002024056] Chr14:91887286 [GRCh38]
Chr14:92353630 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) copy number loss not specified [RCV002053117] Chr14:88345625..94773741 [GRCh37]
Chr14:14q31.3-32.13
pathogenic
NM_006329.4(FBLN5):c.1016C>G (p.Pro339Arg) single nucleotide variant not provided [RCV001966520] Chr14:91877656 [GRCh38]
Chr14:92344000 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.74C>G (p.Ala25Gly) single nucleotide variant not provided [RCV002004337] Chr14:91940615 [GRCh38]
Chr14:92406959 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.58C>T (p.Pro20Ser) single nucleotide variant not provided [RCV001928636] Chr14:91942921 [GRCh38]
Chr14:92409265 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.992G>A (p.Arg331His) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843340]|Macular degeneration, age-related, 3 [RCV002290773]|not provided [RCV002034713] Chr14:91877680 [GRCh38]
Chr14:92344024 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_006329.4(FBLN5):c.1229T>C (p.Ile410Thr) single nucleotide variant not provided [RCV001968524] Chr14:91870342 [GRCh38]
Chr14:92336686 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.491G>A (p.Gly164Asp) single nucleotide variant not provided [RCV002021656] Chr14:91894961 [GRCh38]
Chr14:92361305 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.911C>T (p.Thr304Met) single nucleotide variant not provided [RCV001948347] Chr14:91881370 [GRCh38]
Chr14:92347714 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.242C>T (p.Ser81Leu) single nucleotide variant Inborn genetic diseases [RCV002571227]|not provided [RCV001968788] Chr14:91937084 [GRCh38]
Chr14:92403428 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.986A>T (p.Asp329Val) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843339] Chr14:91881295 [GRCh38]
Chr14:92347639 [GRCh37]
Chr14:14q32.12
pathogenic
NM_006329.4(FBLN5):c.161G>A (p.Arg54Gln) single nucleotide variant Tip-toe gait [RCV001837614]|not provided [RCV002545213] Chr14:91937165 [GRCh38]
Chr14:92403509 [GRCh37]
Chr14:14q32.12
likely pathogenic|uncertain significance
NM_006329.4(FBLN5):c.1342T>C (p.Phe448Leu) single nucleotide variant not provided [RCV001930477] Chr14:91870229 [GRCh38]
Chr14:92336573 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.211C>T (p.Arg71Trp) single nucleotide variant not provided [RCV001942921] Chr14:91937115 [GRCh38]
Chr14:92403459 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1160A>C (p.Asn387Thr) single nucleotide variant not provided [RCV002001040] Chr14:91877512 [GRCh38]
Chr14:92343856 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.834C>G (p.Ile278Met) single nucleotide variant not provided [RCV002038373] Chr14:91882982 [GRCh38]
Chr14:92349326 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1076G>A (p.Arg359His) single nucleotide variant not provided [RCV001960915] Chr14:91877596 [GRCh38]
Chr14:92343940 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.445G>C (p.Gly149Arg) single nucleotide variant not provided [RCV002000712] Chr14:91895007 [GRCh38]
Chr14:92361351 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1204G>A (p.Ala402Thr) single nucleotide variant not provided [RCV001990868] Chr14:91870367 [GRCh38]
Chr14:92336711 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1286T>C (p.Ile429Thr) single nucleotide variant not provided [RCV001900426] Chr14:91870285 [GRCh38]
Chr14:92336629 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1246A>G (p.Ile416Val) single nucleotide variant not provided [RCV001954423] Chr14:91870325 [GRCh38]
Chr14:92336669 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1185+6_1185+12del deletion not provided [RCV001978685] Chr14:91877475..91877481 [GRCh38]
Chr14:92343819..92343825 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.755G>C (p.Ser252Thr) single nucleotide variant not provided [RCV001973601] Chr14:91883061 [GRCh38]
Chr14:92349405 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1252C>G (p.Leu418Val) single nucleotide variant not provided [RCV001991971] Chr14:91870319 [GRCh38]
Chr14:92336663 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.862+18G>T single nucleotide variant not provided [RCV002034998] Chr14:91882936 [GRCh38]
Chr14:92349280 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_006329.4(FBLN5):c.508G>A (p.Asp170Asn) single nucleotide variant not provided [RCV001916847] Chr14:91891332 [GRCh38]
Chr14:92357676 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1223G>A (p.Arg408His) single nucleotide variant not provided [RCV001995971] Chr14:91870348 [GRCh38]
Chr14:92336692 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.266C>T (p.Ser89Leu) single nucleotide variant not provided [RCV001998662] Chr14:91937060 [GRCh38]
Chr14:92403404 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.416A>G (p.Asn139Ser) single nucleotide variant not provided [RCV001898990] Chr14:91895036 [GRCh38]
Chr14:92361380 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.245_256del (p.Asn82_Ser85del) deletion not provided [RCV001957296] Chr14:91937070..91937081 [GRCh38]
Chr14:92403414..92403425 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1025G>C (p.Arg342Thr) single nucleotide variant not provided [RCV002046849] Chr14:91877647 [GRCh38]
Chr14:92343991 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.335T>C (p.Ile112Thr) single nucleotide variant Inborn genetic diseases [RCV003170452]|not provided [RCV001981208] Chr14:91936991 [GRCh38]
Chr14:92403335 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.503-35_509dup duplication not provided [RCV002036133] Chr14:91891330..91891331 [GRCh38]
Chr14:92357674..92357675 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1081G>A (p.Val361Ile) single nucleotide variant not provided [RCV002035092] Chr14:91877591 [GRCh38]
Chr14:92343935 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1319G>A (p.Arg440Gln) single nucleotide variant not provided [RCV002036171] Chr14:91870252 [GRCh38]
Chr14:92336596 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.869A>G (p.Asn290Ser) single nucleotide variant not provided [RCV001931567] Chr14:91881412 [GRCh38]
Chr14:92347756 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.652G>T (p.Val218Leu) single nucleotide variant Inborn genetic diseases [RCV003250416]|not provided [RCV002029052] Chr14:91887280 [GRCh38]
Chr14:92353624 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.571A>G (p.Thr191Ala) single nucleotide variant not provided [RCV002012661] Chr14:91891269 [GRCh38]
Chr14:92357613 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.103C>T (p.Arg35Cys) single nucleotide variant not provided [RCV001879401] Chr14:91940586 [GRCh38]
Chr14:92406930 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1327G>A (p.Val443Met) single nucleotide variant not provided [RCV002050223] Chr14:91870244 [GRCh38]
Chr14:92336588 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1052G>A (p.Arg351Gln) single nucleotide variant not provided [RCV002049271] Chr14:91877620 [GRCh38]
Chr14:92343964 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.990-17del deletion not provided [RCV002206068] Chr14:91877699 [GRCh38]
Chr14:92344043 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.825A>C (p.Pro275=) single nucleotide variant not provided [RCV002105481] Chr14:91882991 [GRCh38]
Chr14:92349335 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.639C>T (p.Thr213=) single nucleotide variant not provided [RCV002168677] Chr14:91887293 [GRCh38]
Chr14:92353637 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.552T>C (p.Val184=) single nucleotide variant not provided [RCV002186820] Chr14:91891288 [GRCh38]
Chr14:92357632 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1134T>C (p.Tyr378=) single nucleotide variant not provided [RCV002186768] Chr14:91877538 [GRCh38]
Chr14:92343882 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.651C>T (p.Cys217=) single nucleotide variant not provided [RCV002170290] Chr14:91887281 [GRCh38]
Chr14:92353625 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.739+8G>A single nucleotide variant not provided [RCV002147795] Chr14:91887185 [GRCh38]
Chr14:92353529 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.862+12C>A single nucleotide variant not provided [RCV002144774] Chr14:91882942 [GRCh38]
Chr14:92349286 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1186-18C>A single nucleotide variant not provided [RCV002169938] Chr14:91870403 [GRCh38]
Chr14:92336747 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.144C>A (p.Thr48=) single nucleotide variant not provided [RCV002148770] Chr14:91937182 [GRCh38]
Chr14:92403526 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1332G>T (p.Ser444=) single nucleotide variant not provided [RCV002167210] Chr14:91870239 [GRCh38]
Chr14:92336583 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.739+15C>T single nucleotide variant not provided [RCV002127603] Chr14:91887178 [GRCh38]
Chr14:92353522 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.739+13C>T single nucleotide variant not provided [RCV002146495] Chr14:91887180 [GRCh38]
Chr14:92353524 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-8C>T single nucleotide variant not provided [RCV002208372] Chr14:91937209 [GRCh38]
Chr14:92403553 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1194C>T (p.Gly398=) single nucleotide variant not provided [RCV002128855] Chr14:91870377 [GRCh38]
Chr14:92336721 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.966G>A (p.Glu322=) single nucleotide variant not provided [RCV002151964] Chr14:91881315 [GRCh38]
Chr14:92347659 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.740-5C>T single nucleotide variant not provided [RCV002078643] Chr14:91883081 [GRCh38]
Chr14:92349425 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+17C>T single nucleotide variant not provided [RCV002071043] Chr14:91881275 [GRCh38]
Chr14:92347619 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.379+13G>T single nucleotide variant not provided [RCV002116607] Chr14:91936934 [GRCh38]
Chr14:92403278 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.484C>T (p.Leu162=) single nucleotide variant not provided [RCV002112894] Chr14:91894968 [GRCh38]
Chr14:92361312 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.264C>T (p.Tyr88=) single nucleotide variant not provided [RCV002195090] Chr14:91937062 [GRCh38]
Chr14:92403406 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.862+19G>A single nucleotide variant not provided [RCV002168898] Chr14:91882935 [GRCh38]
Chr14:92349279 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.503-15C>T single nucleotide variant not provided [RCV002206594] Chr14:91891352 [GRCh38]
Chr14:92357696 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.379+11C>T single nucleotide variant not provided [RCV002150854] Chr14:91936936 [GRCh38]
Chr14:92403280 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.204C>T (p.Cys68=) single nucleotide variant not provided [RCV002188839] Chr14:91937122 [GRCh38]
Chr14:92403466 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.502+13T>C single nucleotide variant not provided [RCV002146831] Chr14:91894937 [GRCh38]
Chr14:92361281 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.84G>A (p.Thr28=) single nucleotide variant not provided [RCV002194919] Chr14:91940605 [GRCh38]
Chr14:92406949 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1185+14G>A single nucleotide variant not provided [RCV002150094] Chr14:91877473 [GRCh38]
Chr14:92343817 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.862+12C>G single nucleotide variant not provided [RCV002227377] Chr14:91882942 [GRCh38]
Chr14:92349286 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+16C>A single nucleotide variant not provided [RCV002175696] Chr14:91881276 [GRCh38]
Chr14:92347620 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1080C>T (p.Ser360=) single nucleotide variant not provided [RCV002156554] Chr14:91877592 [GRCh38]
Chr14:92343936 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1320G>A (p.Arg440=) single nucleotide variant not provided [RCV002220876] Chr14:91870251 [GRCh38]
Chr14:92336595 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.380-7A>G single nucleotide variant not provided [RCV002220910] Chr14:91895079 [GRCh38]
Chr14:92361423 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1065G>A (p.Val355=) single nucleotide variant not provided [RCV002140020] Chr14:91877607 [GRCh38]
Chr14:92343951 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.619+9C>T single nucleotide variant not provided [RCV002138225] Chr14:91891212 [GRCh38]
Chr14:92357556 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.486G>A (p.Leu162=) single nucleotide variant not provided [RCV002083317] Chr14:91894966 [GRCh38]
Chr14:92361310 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.675C>T (p.Tyr225=) single nucleotide variant not provided [RCV002163327] Chr14:91887257 [GRCh38]
Chr14:92353601 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.387C>T (p.Asp129=) single nucleotide variant not provided [RCV002143303] Chr14:91895065 [GRCh38]
Chr14:92361409 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+9C>G single nucleotide variant not provided [RCV002155629] Chr14:91881283 [GRCh38]
Chr14:92347627 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1212G>C (p.Leu404=) single nucleotide variant not provided [RCV002083711] Chr14:91870359 [GRCh38]
Chr14:92336703 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.990-19G>C single nucleotide variant not provided [RCV002217115] Chr14:91877701 [GRCh38]
Chr14:92344045 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.1239C>G (p.Pro413=) single nucleotide variant not provided [RCV002203890] Chr14:91870332 [GRCh38]
Chr14:92336676 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.750G>A (p.Glu250=) single nucleotide variant not provided [RCV002179930] Chr14:91883066 [GRCh38]
Chr14:92349410 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.502+20del deletion not provided [RCV002122985] Chr14:91894930 [GRCh38]
Chr14:92361274 [GRCh37]
Chr14:14q32.12
benign
NM_006329.4(FBLN5):c.1186-19T>C single nucleotide variant not provided [RCV002138470] Chr14:91870404 [GRCh38]
Chr14:92336748 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.503-20G>A single nucleotide variant not provided [RCV002199401] Chr14:91891357 [GRCh38]
Chr14:92357701 [GRCh37]
Chr14:14q32.12
likely benign
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2
uncertain significance
NM_006329.4(FBLN5):c.989+138GT[18] microsatellite not provided [RCV003110013] Chr14:91881120..91881121 [GRCh38]
Chr14:92347464..92347465 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.963G>A (p.Glu321=) single nucleotide variant not provided [RCV003116917] Chr14:91881318 [GRCh38]
Chr14:92347662 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.372A>G (p.Gln124=) single nucleotide variant not provided [RCV003116078] Chr14:91936954 [GRCh38]
Chr14:92403298 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.912G>A (p.Thr304=) single nucleotide variant not provided [RCV003116087] Chr14:91881369 [GRCh38]
Chr14:92347713 [GRCh37]
Chr14:14q32.12
likely benign
NC_000014.8:g.(?_90429459)_(94856914_?)dup duplication Achondrogenesis, type IA [RCV003113413] Chr14:90429459..94856914 [GRCh37]
Chr14:14q32.11-32.13
uncertain significance
NM_006329.4(FBLN5):c.627C>T (p.Asn209=) single nucleotide variant not provided [RCV003121947] Chr14:91887305 [GRCh38]
Chr14:92353649 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.64A>G (p.Asn22Asp) single nucleotide variant not provided [RCV003122042] Chr14:91942915 [GRCh38]
Chr14:92409259 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.505A>G (p.Ile169Val) single nucleotide variant not provided [RCV003118947] Chr14:91891335 [GRCh38]
Chr14:92357679 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_006329.4(FBLN5):c.724G>A (p.Gly242Ser) single nucleotide variant not provided [RCV002297804] Chr14:91887208 [GRCh38]
Chr14:92353552 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33
pathogenic
NM_006329.4(FBLN5):c.265T>G (p.Ser89Ala) single nucleotide variant not provided [RCV002296052] Chr14:91937061 [GRCh38]
Chr14:92403405 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2
likely pathogenic
NM_006329.4(FBLN5):c.251A>T (p.Tyr84Phe) single nucleotide variant not provided [RCV002297993] Chr14:91937075 [GRCh38]
Chr14:92403419 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1034C>G (p.Pro345Arg) single nucleotide variant not provided [RCV002302046] Chr14:91877638 [GRCh38]
Chr14:92343982 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1066G>T (p.Val356Leu) single nucleotide variant not provided [RCV002300523] Chr14:91877606 [GRCh38]
Chr14:92343950 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.43C>G (p.Leu15Val) single nucleotide variant not provided [RCV002297969] Chr14:91942936 [GRCh38]
Chr14:92409280 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV002301654] Chr14:91895034 [GRCh38]
Chr14:92361378 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1185+15G>A single nucleotide variant not provided [RCV002730307] Chr14:91877472 [GRCh38]
Chr14:92343816 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.605G>A (p.Gly202Glu) single nucleotide variant not provided [RCV002685434] Chr14:91891235 [GRCh38]
Chr14:92357579 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.570T>C (p.Cys190=) single nucleotide variant not provided [RCV002815893] Chr14:91891270 [GRCh38]
Chr14:92357614 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.380-2A>G single nucleotide variant not provided [RCV003017711] Chr14:91895074 [GRCh38]
Chr14:92361418 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.989+13G>T single nucleotide variant not provided [RCV002881109] Chr14:91881279 [GRCh38]
Chr14:92347623 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.698A>C (p.Asp233Ala) single nucleotide variant not provided [RCV002756584] Chr14:91887234 [GRCh38]
Chr14:92353578 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1112C>T (p.Thr371Met) single nucleotide variant not provided [RCV003095408] Chr14:91877560 [GRCh38]
Chr14:92343904 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.456C>G (p.Thr152=) single nucleotide variant not provided [RCV003035147] Chr14:91894996 [GRCh38]
Chr14:92361340 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.722A>G (p.Asp241Gly) single nucleotide variant not provided [RCV002819767] Chr14:91887210 [GRCh38]
Chr14:92353554 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1161T>C (p.Asn387=) single nucleotide variant not provided [RCV002681411] Chr14:91877511 [GRCh38]
Chr14:92343855 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+15C>T single nucleotide variant not provided [RCV003016491] Chr14:91881277 [GRCh38]
Chr14:92347621 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.740-3C>T single nucleotide variant not provided [RCV002774831] Chr14:91883079 [GRCh38]
Chr14:92349423 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1101A>G (p.Gln367=) single nucleotide variant not provided [RCV002681784] Chr14:91877571 [GRCh38]
Chr14:92343915 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.218A>T (p.Asn73Ile) single nucleotide variant not provided [RCV002615054] Chr14:91937108 [GRCh38]
Chr14:92403452 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.255_266dup (p.Ser89_Gly90insThrProTyrSer) duplication not provided [RCV002614443] Chr14:91937059..91937060 [GRCh38]
Chr14:92403403..92403404 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1240C>T (p.Arg414Trp) single nucleotide variant not provided [RCV002462399] Chr14:91870331 [GRCh38]
Chr14:92336675 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.139C>T (p.Arg47Ter) single nucleotide variant not provided [RCV003014439] Chr14:91937187 [GRCh38]
Chr14:92403531 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.990-20C>T single nucleotide variant not provided [RCV002617826] Chr14:91877702 [GRCh38]
Chr14:92344046 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.638C>T (p.Thr213Ile) single nucleotide variant not provided [RCV002994699] Chr14:91887294 [GRCh38]
Chr14:92353638 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.619+11del deletion not provided [RCV003038960] Chr14:91891210 [GRCh38]
Chr14:92357554 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.453C>T (p.Tyr151=) single nucleotide variant not provided [RCV002914314] Chr14:91894999 [GRCh38]
Chr14:92361343 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1186-13G>A single nucleotide variant not provided [RCV002914397] Chr14:91870398 [GRCh38]
Chr14:92336742 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1226C>T (p.Pro409Leu) single nucleotide variant not provided [RCV002619095] Chr14:91870345 [GRCh38]
Chr14:92336689 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.989+2T>C single nucleotide variant not provided [RCV002690993] Chr14:91881290 [GRCh38]
Chr14:92347634 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.104G>A (p.Arg35His) single nucleotide variant not provided [RCV002621730] Chr14:91940585 [GRCh38]
Chr14:92406929 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.18-20T>G single nucleotide variant not provided [RCV002796662] Chr14:91942981 [GRCh38]
Chr14:92409325 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1232A>G (p.Lys411Arg) single nucleotide variant not provided [RCV002705945] Chr14:91870339 [GRCh38]
Chr14:92336683 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.528C>T (p.Tyr176=) single nucleotide variant not provided [RCV002735937] Chr14:91891312 [GRCh38]
Chr14:92357656 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.379+15C>G single nucleotide variant not provided [RCV002659378] Chr14:91936932 [GRCh38]
Chr14:92403276 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.726C>T (p.Gly242=) single nucleotide variant not provided [RCV002756851] Chr14:91887206 [GRCh38]
Chr14:92353550 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1063G>A (p.Val355Met) single nucleotide variant not provided [RCV002979013] Chr14:91877609 [GRCh38]
Chr14:92343953 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1260G>A (p.Leu420=) single nucleotide variant not provided [RCV002795762] Chr14:91870311 [GRCh38]
Chr14:92336655 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.544G>A (p.Ala182Thr) single nucleotide variant not provided [RCV002705824] Chr14:91891296 [GRCh38]
Chr14:92357640 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.73G>C (p.Ala25Pro) single nucleotide variant not provided [RCV002781516] Chr14:91940616 [GRCh38]
Chr14:92406960 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.739+11T>C single nucleotide variant not provided [RCV002871058] Chr14:91887182 [GRCh38]
Chr14:92353526 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1185+18_1185+24del microsatellite not provided [RCV002795368] Chr14:91877463..91877469 [GRCh38]
Chr14:92343807..92343813 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.380-9_380-8del deletion not provided [RCV003019382] Chr14:91895080..91895081 [GRCh38]
Chr14:92361424..92361425 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1313G>A (p.Arg438Gln) single nucleotide variant not provided [RCV002780439] Chr14:91870258 [GRCh38]
Chr14:92336602 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1191G>T (p.Thr397=) single nucleotide variant not provided [RCV003036266] Chr14:91870380 [GRCh38]
Chr14:92336724 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.54A>G (p.Pro18=) single nucleotide variant not provided [RCV002867258] Chr14:91942925 [GRCh38]
Chr14:92409269 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.945_946inv (p.Asp316Asn) inversion not provided [RCV002886219] Chr14:91881335..91881336 [GRCh38]
Chr14:92347679..92347680 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.229C>A (p.Arg77=) single nucleotide variant not provided [RCV002797095] Chr14:91937097 [GRCh38]
Chr14:92403441 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.619+14A>T single nucleotide variant not provided [RCV002570226] Chr14:91891207 [GRCh38]
Chr14:92357551 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+14T>G single nucleotide variant not provided [RCV002569551] Chr14:91881278 [GRCh38]
Chr14:92347622 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.379+12G>A single nucleotide variant not provided [RCV002590796] Chr14:91936935 [GRCh38]
Chr14:92403279 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.666C>T (p.Val222=) single nucleotide variant not provided [RCV003038276] Chr14:91887266 [GRCh38]
Chr14:92353610 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.903G>A (p.Leu301=) single nucleotide variant not provided [RCV002926912] Chr14:91881378 [GRCh38]
Chr14:92347722 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.739+6G>A single nucleotide variant not provided [RCV003002083] Chr14:91887187 [GRCh38]
Chr14:92353531 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.265T>C (p.Ser89Pro) single nucleotide variant not provided [RCV002636318] Chr14:91937061 [GRCh38]
Chr14:92403405 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1112C>A (p.Thr371Lys) single nucleotide variant not provided [RCV002640020] Chr14:91877560 [GRCh38]
Chr14:92343904 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.72+12A>G single nucleotide variant not provided [RCV002575751] Chr14:91942895 [GRCh38]
Chr14:92409239 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.863-12C>G single nucleotide variant not provided [RCV002700684] Chr14:91881430 [GRCh38]
Chr14:92347774 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.72+5G>T single nucleotide variant not provided [RCV002667558] Chr14:91942902 [GRCh38]
Chr14:92409246 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1042A>C (p.Ile348Leu) single nucleotide variant not provided [RCV002741330] Chr14:91877630 [GRCh38]
Chr14:92343974 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.863-19T>G single nucleotide variant not provided [RCV002642449] Chr14:91881437 [GRCh38]
Chr14:92347781 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1230C>T (p.Ile410=) single nucleotide variant not provided [RCV003023582] Chr14:91870341 [GRCh38]
Chr14:92336685 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.862+17G>C single nucleotide variant not provided [RCV002765824] Chr14:91882937 [GRCh38]
Chr14:92349281 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.243G>A (p.Ser81=) single nucleotide variant not provided [RCV002710619] Chr14:91937083 [GRCh38]
Chr14:92403427 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.990-19G>A single nucleotide variant not provided [RCV002597001] Chr14:91877701 [GRCh38]
Chr14:92344045 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.154G>T (p.Ala52Ser) single nucleotide variant not provided [RCV002595186] Chr14:91937172 [GRCh38]
Chr14:92403516 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.314C>A (p.Pro105His) single nucleotide variant not provided [RCV002928336] Chr14:91937012 [GRCh38]
Chr14:92403356 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.863-14C>A single nucleotide variant not provided [RCV002829303] Chr14:91881432 [GRCh38]
Chr14:92347776 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1222C>T (p.Arg408Cys) single nucleotide variant not provided [RCV002667837] Chr14:91870349 [GRCh38]
Chr14:92336693 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.502+19G>A single nucleotide variant not provided [RCV002982682] Chr14:91894931 [GRCh38]
Chr14:92361275 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1231A>T (p.Lys411Ter) single nucleotide variant not provided [RCV002851895] Chr14:91870340 [GRCh38]
Chr14:92336684 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1227C>T (p.Pro409=) single nucleotide variant not provided [RCV002711058] Chr14:91870344 [GRCh38]
Chr14:92336688 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.292C>T (p.Pro98Ser) single nucleotide variant not provided [RCV002790366] Chr14:91937034 [GRCh38]
Chr14:92403378 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1251G>T (p.Gln417His) single nucleotide variant not provided [RCV002917457] Chr14:91870320 [GRCh38]
Chr14:92336664 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.862+13G>A single nucleotide variant not provided [RCV002626304] Chr14:91882941 [GRCh38]
Chr14:92349285 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.73-18C>T single nucleotide variant not provided [RCV002626492] Chr14:91940634 [GRCh38]
Chr14:92406978 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.619+14A>G single nucleotide variant not provided [RCV002594609] Chr14:91891207 [GRCh38]
Chr14:92357551 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1118G>A (p.Arg373His) single nucleotide variant not provided [RCV002572483] Chr14:91877554 [GRCh38]
Chr14:92343898 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.502+15G>T single nucleotide variant not provided [RCV003059220] Chr14:91894935 [GRCh38]
Chr14:92361279 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.905A>G (p.Gln302Arg) single nucleotide variant not provided [RCV002701412] Chr14:91881376 [GRCh38]
Chr14:92347720 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.83C>T (p.Thr28Met) single nucleotide variant not provided [RCV002745394] Chr14:91940606 [GRCh38]
Chr14:92406950 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.622G>T (p.Val208Leu) single nucleotide variant not provided [RCV002593906] Chr14:91887310 [GRCh38]
Chr14:92353654 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.213G>A (p.Arg71=) single nucleotide variant not provided [RCV002625987] Chr14:91937113 [GRCh38]
Chr14:92403457 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1335G>C (p.Gln445His) single nucleotide variant Inborn genetic diseases [RCV002650640]|not provided [RCV002650639] Chr14:91870236 [GRCh38]
Chr14:92336580 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.73-15T>A single nucleotide variant not provided [RCV002676576] Chr14:91940631 [GRCh38]
Chr14:92406975 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.502+19G>C single nucleotide variant not provided [RCV002602185] Chr14:91894931 [GRCh38]
Chr14:92361275 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.863-19T>C single nucleotide variant not provided [RCV003045263] Chr14:91881437 [GRCh38]
Chr14:92347781 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.22C>T (p.Leu8Phe) single nucleotide variant not provided [RCV002578854] Chr14:91942957 [GRCh38]
Chr14:92409301 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.125-20G>A single nucleotide variant not provided [RCV003011547] Chr14:91937221 [GRCh38]
Chr14:92403565 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1310T>C (p.Ile437Thr) single nucleotide variant not provided [RCV003009436] Chr14:91870261 [GRCh38]
Chr14:92336605 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.450G>A (p.Gly150=) single nucleotide variant not provided [RCV003044210] Chr14:91895002 [GRCh38]
Chr14:92361346 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.837G>C (p.Leu279=) single nucleotide variant not provided [RCV002576986] Chr14:91882979 [GRCh38]
Chr14:92349323 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1285A>G (p.Ile429Val) single nucleotide variant not provided [RCV002671991] Chr14:91870286 [GRCh38]
Chr14:92336630 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1237C>T (p.Pro413Ser) single nucleotide variant not provided [RCV002962232] Chr14:91870334 [GRCh38]
Chr14:92336678 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.863-18G>T single nucleotide variant not provided [RCV002645910] Chr14:91881436 [GRCh38]
Chr14:92347780 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.142A>G (p.Thr48Ala) single nucleotide variant not provided [RCV003027659] Chr14:91937184 [GRCh38]
Chr14:92403528 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1190C>T (p.Thr397Met) single nucleotide variant not provided [RCV003087532] Chr14:91870381 [GRCh38]
Chr14:92336725 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.295C>T (p.Leu99Phe) single nucleotide variant not provided [RCV002650486] Chr14:91937031 [GRCh38]
Chr14:92403375 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.257C>G (p.Thr86Ser) single nucleotide variant FBLN5-related condition [RCV003410068]|not provided [RCV003061604] Chr14:91937069 [GRCh38]
Chr14:92403413 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.357G>A (p.Met119Ile) single nucleotide variant not provided [RCV002715277] Chr14:91936969 [GRCh38]
Chr14:92403313 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.663C>A (p.Cys221Ter) single nucleotide variant not provided [RCV002877019] Chr14:91887269 [GRCh38]
Chr14:92353613 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.798C>T (p.Pro266=) single nucleotide variant not provided [RCV002806090] Chr14:91883018 [GRCh38]
Chr14:92349362 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.990-4A>C single nucleotide variant not provided [RCV002646515] Chr14:91877686 [GRCh38]
Chr14:92344030 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.561C>T (p.Ser187=) single nucleotide variant not provided [RCV002578360] Chr14:91891279 [GRCh38]
Chr14:92357623 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.967C>G (p.Pro323Ala) single nucleotide variant not provided [RCV002649291] Chr14:91881314 [GRCh38]
Chr14:92347658 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.502+15G>A single nucleotide variant not provided [RCV002716409] Chr14:91894935 [GRCh38]
Chr14:92361279 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.165A>G (p.Gly55=) single nucleotide variant not provided [RCV002635931] Chr14:91937161 [GRCh38]
Chr14:92403505 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.502+17G>A single nucleotide variant not provided [RCV002653255] Chr14:91894933 [GRCh38]
Chr14:92361277 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.837G>T (p.Leu279=) single nucleotide variant not provided [RCV002815012] Chr14:91882979 [GRCh38]
Chr14:92349323 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1332G>A (p.Ser444=) single nucleotide variant not provided [RCV002633189] Chr14:91870239 [GRCh38]
Chr14:92336583 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.862+18G>A single nucleotide variant not provided [RCV002585749] Chr14:91882936 [GRCh38]
Chr14:92349280 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1305C>T (p.Ser435=) single nucleotide variant not provided [RCV002653521] Chr14:91870266 [GRCh38]
Chr14:92336610 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.831C>T (p.Tyr277=) single nucleotide variant not provided [RCV002657778] Chr14:91882985 [GRCh38]
Chr14:92349329 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.659C>A (p.Thr220Asn) single nucleotide variant not provided [RCV002608750] Chr14:91887273 [GRCh38]
Chr14:92353617 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1179C>T (p.Tyr393=) single nucleotide variant not provided [RCV002634420] Chr14:91877493 [GRCh38]
Chr14:92343837 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.51T>G (p.Leu17=) single nucleotide variant not provided [RCV002588208] Chr14:91942928 [GRCh38]
Chr14:92409272 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.840G>A (p.Leu280=) single nucleotide variant not provided [RCV002590154] Chr14:91882976 [GRCh38]
Chr14:92349320 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.447C>T (p.Gly149=) single nucleotide variant not provided [RCV002721760] Chr14:91895005 [GRCh38]
Chr14:92361349 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.990-6C>G single nucleotide variant not provided [RCV002721924] Chr14:91877688 [GRCh38]
Chr14:92344032 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1186-17C>T single nucleotide variant not provided [RCV002680843] Chr14:91870402 [GRCh38]
Chr14:92336746 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.989+12C>T single nucleotide variant not provided [RCV002584268] Chr14:91881280 [GRCh38]
Chr14:92347624 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.128T>C (p.Ile43Thr) single nucleotide variant not provided [RCV002610076] Chr14:91937198 [GRCh38]
Chr14:92403542 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.67G>A (p.Ala23Thr) single nucleotide variant Inborn genetic diseases [RCV002723206] Chr14:91942912 [GRCh38]
Chr14:92409256 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.208C>G (p.Pro70Ala) single nucleotide variant Inborn genetic diseases [RCV003068984]|not provided [RCV003068983] Chr14:91937118 [GRCh38]
Chr14:92403462 [GRCh37]
Chr14:14q32.12
uncertain significance
NG_008254.1:g.48570_71295dup22726 indel Cutis laxa, autosomal recessive, type 1A [RCV003224772]   not provided
NM_006329.4(FBLN5):c.1161T>G (p.Asn387Lys) single nucleotide variant Inborn genetic diseases [RCV003194625] Chr14:91877511 [GRCh38]
Chr14:92343855 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.910A>G (p.Thr304Ala) single nucleotide variant Inborn genetic diseases [RCV003357525] Chr14:91881371 [GRCh38]
Chr14:92347715 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.863-4T>G single nucleotide variant not provided [RCV003570401] Chr14:91881422 [GRCh38]
Chr14:92347766 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.209C>T (p.Pro70Leu) single nucleotide variant not provided [RCV003569150] Chr14:91937117 [GRCh38]
Chr14:92403461 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.414C>T (p.Cys138=) single nucleotide variant not provided [RCV003543783] Chr14:91895038 [GRCh38]
Chr14:92361382 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33
pathogenic
NM_006329.4(FBLN5):c.323C>A (p.Ser108Tyr) single nucleotide variant not provided [RCV003872734] Chr14:91937003 [GRCh38]
Chr14:92403347 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
NM_006329.4(FBLN5):c.371A>C (p.Gln124Pro) single nucleotide variant Age-related macular degeneration [RCV003447396] Chr14:91936955 [GRCh38]
Chr14:92403299 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1312C>T (p.Arg438Ter) single nucleotide variant not provided [RCV003393561] Chr14:91870259 [GRCh38]
Chr14:92336603 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.116A>G (p.Gln39Arg) single nucleotide variant FBLN5-related condition [RCV003412050] Chr14:91940573 [GRCh38]
Chr14:92406917 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.955C>T (p.Arg319Cys) single nucleotide variant not provided [RCV003400624] Chr14:91881326 [GRCh38]
Chr14:92347670 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.125-1242C>T single nucleotide variant not provided [RCV003393563] Chr14:91938443 [GRCh38]
Chr14:92404787 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1075C>T (p.Arg359Cys) single nucleotide variant not provided [RCV003393562] Chr14:91877597 [GRCh38]
Chr14:92343941 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.247_248insACTACTCGACCC (p.Asn82_Pro83insHisTyrSerThr) insertion not provided [RCV003390437] Chr14:91937078..91937079 [GRCh38]
Chr14:92403422..92403423 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.101A>T (p.Asp34Val) single nucleotide variant not provided [RCV003544838] Chr14:91940588 [GRCh38]
Chr14:92406932 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.299C>T (p.Ser100Leu) single nucleotide variant not provided [RCV003660694] Chr14:91937027 [GRCh38]
Chr14:92403371 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.17+11G>A single nucleotide variant not provided [RCV003662279] Chr14:91947202 [GRCh38]
Chr14:92413546 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.852A>T (p.Arg284=) single nucleotide variant not provided [RCV003572132] Chr14:91882964 [GRCh38]
Chr14:92349308 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.564T>C (p.Tyr188=) single nucleotide variant not provided [RCV003547385] Chr14:91891276 [GRCh38]
Chr14:92357620 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.125-17C>T single nucleotide variant not provided [RCV003716236] Chr14:91937218 [GRCh38]
Chr14:92403562 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1046T>G (p.Leu349Trp) single nucleotide variant not provided [RCV003574302] Chr14:91877626 [GRCh38]
Chr14:92343970 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1010A>T (p.Glu337Val) single nucleotide variant not provided [RCV003544907] Chr14:91877662 [GRCh38]
Chr14:92344006 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.949C>A (p.Pro317Thr) single nucleotide variant not provided [RCV003689217] Chr14:91881332 [GRCh38]
Chr14:92347676 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.844G>A (p.Asp282Asn) single nucleotide variant not provided [RCV003661545] Chr14:91882972 [GRCh38]
Chr14:92349316 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.252C>T (p.Tyr84=) single nucleotide variant not provided [RCV003713320] Chr14:91937074 [GRCh38]
Chr14:92403418 [GRCh37]
Chr14:14q32.12
likely benign
NM_006329.4(FBLN5):c.1015C>T (p.Pro339Ser) single nucleotide variant not provided [RCV003660181] Chr14:91877657 [GRCh38]
Chr14:92344001 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1004C>T (p.Pro335Leu) single nucleotide variant not provided [RCV003877858] Chr14:91877668 [GRCh38]
Chr14:92344012 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.254C>G (p.Ser85Trp) single nucleotide variant not provided [RCV003663159] Chr14:91937072 [GRCh38]
Chr14:92403416 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.1283T>G (p.Val428Gly) single nucleotide variant not provided [RCV003661844] Chr14:91870288 [GRCh38]
Chr14:92336632 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_006329.4(FBLN5):c.124+6A>G single nucleotide variant not provided [RCV003663453] Chr14:91940559 [GRCh38]
Chr14:92406903 [GRCh37]
Chr14:14q32.12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2227
Count of miRNA genes:853
Interacting mature miRNAs:994
Transcripts:ENST00000267620, ENST00000342058, ENST00000554121, ENST00000554468, ENST00000556154, ENST00000556961, ENST00000557088, ENST00000557462, ENST00000557570
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.

Markers in Region
RH120630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,335,571 - 92,335,844UniSTSGRCh37
Build 361491,405,324 - 91,405,597RGDNCBI36
Celera1472,388,190 - 72,388,463RGD
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map14q32.12UniSTS
HuRef1472,516,325 - 72,516,598UniSTS
TNG Radiation Hybrid Map1436368.0UniSTS
SHGC-107516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,356,571 - 92,356,915UniSTSGRCh37
Build 361491,426,324 - 91,426,668RGDNCBI36
Celera1472,409,198 - 72,409,542RGD
Cytogenetic Map14q32.1UniSTS
HuRef1472,537,222 - 72,537,566UniSTS
TNG Radiation Hybrid Map1436394.0UniSTS
FBLN5_9125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,335,809 - 92,336,654UniSTSGRCh37
Build 361491,405,562 - 91,406,407RGDNCBI36
Celera1472,388,428 - 72,389,273RGD
HuRef1472,516,563 - 72,517,408UniSTS
D14S1304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,335,784 - 92,335,918UniSTSGRCh37
Build 361491,405,537 - 91,405,671RGDNCBI36
Celera1472,388,403 - 72,388,537RGD
Cytogenetic Map14q32.1UniSTS
HuRef1472,516,538 - 72,516,672UniSTS
MARC_6365-6366:996689692:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,347,729 - 92,349,386UniSTSGRCh37
Build 361491,417,482 - 91,419,139RGDNCBI36
Celera1472,400,349 - 72,402,006RGD
HuRef1472,528,385 - 72,530,042UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 67 1
Medium 2209 2118 1316 339 477 179 3646 1697 1238 273 1317 1342 160 1204 2358 1
Low 151 555 397 278 868 276 685 486 2414 111 117 160 8 1 430 4 2
Below cutoff 57 251 12 7 531 10 21 11 61 22 22 88 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA812956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF093118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL546863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP338841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB263961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000267620   ⟹   ENSP00000267620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,441 - 91,947,399 (-)Ensembl
RefSeq Acc Id: ENST00000342058   ⟹   ENSP00000345008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,411 - 91,947,694 (-)Ensembl
RefSeq Acc Id: ENST00000554121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,870,227 - 91,878,042 (-)Ensembl
RefSeq Acc Id: ENST00000554468   ⟹   ENSP00000451486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,937,053 - 91,947,987 (-)Ensembl
RefSeq Acc Id: ENST00000556154   ⟹   ENSP00000451982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,870,043 - 91,947,074 (-)Ensembl
RefSeq Acc Id: ENST00000556961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,412 - 91,874,816 (-)Ensembl
RefSeq Acc Id: ENST00000557088   ⟹   ENSP00000451002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,431 - 91,947,694 (-)Ensembl
RefSeq Acc Id: ENST00000557462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,937,011 - 91,947,236 (-)Ensembl
RefSeq Acc Id: ENST00000557570   ⟹   ENSP00000450787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,431 - 91,947,566 (-)Ensembl
RefSeq Acc Id: ENST00000706675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,424 - 91,883,630 (-)Ensembl
RefSeq Acc Id: ENST00000706676   ⟹   ENSP00000516492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,424 - 91,947,014 (-)Ensembl
RefSeq Acc Id: ENST00000706677   ⟹   ENSP00000516493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,424 - 91,947,683 (-)Ensembl
RefSeq Acc Id: ENST00000706678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,431 - 91,891,991 (-)Ensembl
RefSeq Acc Id: ENST00000706679   ⟹   ENSP00000516494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,431 - 91,945,885 (-)Ensembl
RefSeq Acc Id: ENST00000706680   ⟹   ENSP00000516495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,431 - 91,947,683 (-)Ensembl
RefSeq Acc Id: ENST00000706681   ⟹   ENSP00000516496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,869,431 - 91,947,683 (-)Ensembl
RefSeq Acc Id: NM_001384158   ⟹   NP_001371087
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,694 (-)NCBI
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001384159   ⟹   NP_001371088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,032 (-)NCBI
T2T-CHM13v2.01486,098,901 - 86,176,492 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001384160   ⟹   NP_001371089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,694 (-)NCBI
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001384161   ⟹   NP_001371090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,694 (-)NCBI
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001384162   ⟹   NP_001371091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,694 (-)NCBI
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006329   ⟹   NP_006320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,694 (-)NCBI
GRCh371492,335,755 - 92,414,046 (-)ENTREZGENE
GRCh371492,335,755 - 92,414,046 (-)NCBI
Build 361491,405,508 - 91,483,788 (-)NCBI Archive
HuRef1472,516,509 - 72,594,687 (-)ENTREZGENE
CHM1_11492,273,834 - 92,352,362 (-)NCBI
T2T-CHM13v2.01486,098,901 - 86,177,154 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536356   ⟹   XP_011534658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,869,411 - 91,947,032 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054375274   ⟹   XP_054231249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01486,098,901 - 86,176,492 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001371087 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371088 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371089 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371090 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371091 (Get FASTA)   NCBI Sequence Viewer  
  NP_006320 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534658 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231249 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC62107 (Get FASTA)   NCBI Sequence Viewer  
  AAD41768 (Get FASTA)   NCBI Sequence Viewer  
  AAH22280 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89257 (Get FASTA)   NCBI Sequence Viewer  
  AEE61295 (Get FASTA)   NCBI Sequence Viewer  
  BAG51970 (Get FASTA)   NCBI Sequence Viewer  
  BAG52073 (Get FASTA)   NCBI Sequence Viewer  
  CAB38568 (Get FASTA)   NCBI Sequence Viewer  
  CAD62618 (Get FASTA)   NCBI Sequence Viewer  
  CAF86416 (Get FASTA)   NCBI Sequence Viewer  
  CAG33421 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30879 (Get FASTA)   NCBI Sequence Viewer  
  EAW81465 (Get FASTA)   NCBI Sequence Viewer  
  EAW81466 (Get FASTA)   NCBI Sequence Viewer  
  EAW81467 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000267620
  ENSP00000267620.10
  ENSP00000345008
  ENSP00000345008.4
  ENSP00000450787
  ENSP00000450787.2
  ENSP00000451002.1
  ENSP00000451486.1
  ENSP00000451982
  ENSP00000451982.2
  ENSP00000516492.1
  ENSP00000516493
  ENSP00000516493.1
  ENSP00000516494.1
  ENSP00000516495.1
  ENSP00000516496.1
GenBank Protein Q9UBX5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006320   ⟸   NM_006329
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IAL4 (UniProtKB/Swiss-Prot),   O75966 (UniProtKB/Swiss-Prot),   Q6UWA3 (UniProtKB/Swiss-Prot),   Q9UBX5 (UniProtKB/Swiss-Prot),   A0A024R6G3 (UniProtKB/TrEMBL),   A0A9L9PY85 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534658   ⟸   XM_011536356
- Peptide Label: isoform X1
- UniProtKB: A0A9L9PY85 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451982   ⟸   ENST00000556154
RefSeq Acc Id: ENSP00000267620   ⟸   ENST00000267620
RefSeq Acc Id: ENSP00000451002   ⟸   ENST00000557088
RefSeq Acc Id: ENSP00000450787   ⟸   ENST00000557570
RefSeq Acc Id: ENSP00000345008   ⟸   ENST00000342058
RefSeq Acc Id: ENSP00000451486   ⟸   ENST00000554468
RefSeq Acc Id: NP_001371089   ⟸   NM_001384160
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A9L9PXD9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371087   ⟸   NM_001384158
- Peptide Label: isoform 2 precursor
- UniProtKB: G3XA98 (UniProtKB/TrEMBL),   A0A9L9PY85 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371091   ⟸   NM_001384162
- Peptide Label: isoform 6
- UniProtKB: G3V2P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371090   ⟸   NM_001384161
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001371088   ⟸   NM_001384159
- Peptide Label: isoform 3 precursor
- UniProtKB: G3V4U0 (UniProtKB/TrEMBL),   A0A9L9PY85 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000516492   ⟸   ENST00000706676
RefSeq Acc Id: ENSP00000516496   ⟸   ENST00000706681
RefSeq Acc Id: ENSP00000516495   ⟸   ENST00000706680
RefSeq Acc Id: ENSP00000516494   ⟸   ENST00000706679
RefSeq Acc Id: ENSP00000516493   ⟸   ENST00000706677
RefSeq Acc Id: XP_054231249   ⟸   XM_054375274
- Peptide Label: isoform X1
- UniProtKB: A0A9L9PY85 (UniProtKB/TrEMBL)
Protein Domains
EGF-like   EGF-like calcium-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBX5-F1-model_v2 AlphaFold Q9UBX5 1-448 view protein structure

Promoters
RGD ID:6791586
Promoter ID:HG_KWN:20019
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:UC001XZW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361491,409,589 - 91,410,089 (-)MPROMDB
RGD ID:6791576
Promoter ID:HG_KWN:20020
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_006329,   UC010AUD.1,   UC010AUE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361491,483,501 - 91,484,001 (-)MPROMDB
RGD ID:7228403
Promoter ID:EPDNEW_H19948
Type:initiation region
Name:FBLN5_2
Description:fibulin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19949  EPDNEW_H19950  EPDNEW_H19951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,947,032 - 91,947,092EPDNEW
RGD ID:7228407
Promoter ID:EPDNEW_H19949
Type:initiation region
Name:FBLN5_1
Description:fibulin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19948  EPDNEW_H19950  EPDNEW_H19951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,947,412 - 91,947,472EPDNEW
RGD ID:7228409
Promoter ID:EPDNEW_H19950
Type:initiation region
Name:FBLN5_3
Description:fibulin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19948  EPDNEW_H19949  EPDNEW_H19951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,947,692 - 91,947,752EPDNEW
RGD ID:7228411
Promoter ID:EPDNEW_H19951
Type:initiation region
Name:FBLN5_4
Description:fibulin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19948  EPDNEW_H19949  EPDNEW_H19950  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,947,990 - 91,948,050EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3602 AgrOrtholog
COSMIC FBLN5 COSMIC
Ensembl Genes ENSG00000140092 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000267620 ENTREZGENE
  ENST00000267620.14 UniProtKB/TrEMBL
  ENST00000342058 ENTREZGENE
  ENST00000342058.9 UniProtKB/Swiss-Prot
  ENST00000554468.5 UniProtKB/TrEMBL
  ENST00000556154 ENTREZGENE
  ENST00000556154.5 UniProtKB/TrEMBL
  ENST00000557088.6 UniProtKB/TrEMBL
  ENST00000557570 ENTREZGENE
  ENST00000557570.2 UniProtKB/TrEMBL
  ENST00000706676.1 UniProtKB/TrEMBL
  ENST00000706677 ENTREZGENE
  ENST00000706677.1 UniProtKB/TrEMBL
  ENST00000706679.1 UniProtKB/TrEMBL
  ENST00000706680.1 UniProtKB/TrEMBL
  ENST00000706681.1 UniProtKB/TrEMBL
Gene3D-CATH Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140092 GTEx
HGNC ID HGNC:3602 ENTREZGENE
Human Proteome Map FBLN5 Human Proteome Map
InterPro 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
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10516 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10516 ENTREZGENE
OMIM 604580 OMIM
PANTHER EGF-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FIBULIN-5 UniProtKB/TrEMBL
  PTHR24034:SF177 UniProtKB/TrEMBL
  VACUOLAR-SORTING RECEPTOR 3-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28015 PharmGKB
PRINTS THRMBOMODULN UniProtKB/TrEMBL
PROSITE 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 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 A0A024R6G3 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PX66_HUMAN UniProtKB/TrEMBL
  A0A9L9PXD9 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PY85 ENTREZGENE, UniProtKB/TrEMBL
  FBLN5_HUMAN UniProtKB/Swiss-Prot
  G3V2P8 ENTREZGENE, UniProtKB/TrEMBL
  G3V329_HUMAN UniProtKB/TrEMBL
  G3V3Y2_HUMAN UniProtKB/TrEMBL
  G3V4U0 ENTREZGENE, UniProtKB/TrEMBL
  G3XA98 ENTREZGENE, UniProtKB/TrEMBL
  O75966 ENTREZGENE
  Q6IAL4 ENTREZGENE
  Q6UWA3 ENTREZGENE
  Q9UBX5 ENTREZGENE
UniProt Secondary O75966 UniProtKB/Swiss-Prot
  Q6IAL4 UniProtKB/Swiss-Prot
  Q6UWA3 UniProtKB/Swiss-Prot