FTL (ferritin light chain) - Rat Genome Database

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Gene: FTL (ferritin light chain) Homo sapiens
Analyze
Symbol: FTL
Name: ferritin light chain
RGD ID: 1346340
HGNC Page HGNC:3999
Description: Enables identical protein binding activity and iron ion binding activity. Predicted to be involved in intracellular iron ion homeostasis. Located in autolysosome. Part of ferritin complex. Implicated in basal ganglia disease; hyperferritinemia-cataract syndrome; neurodegeneration with brain iron accumulation 3; and neurodegenerative disease. Biomarker of COVID-19.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ferritin L subunit; ferritin L-chain; ferritin light polypeptide-like 3; ferritin, light polypeptide; FTL1; LFTD; MGC71996; NBIA3; neurodegeneration with brain iron accumulation 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FTLP1   FTLP10   FTLP11   FTLP12   FTLP13   FTLP14   FTLP15   FTLP16   FTLP17   FTLP18   FTLP19   FTLP2   FTLP20   FTLP3   FTLP4   FTLP5   FTLP6   FTLP7   FTLP8   FTLP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,965,309 - 48,966,879 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1948,965,309 - 48,967,896 (+)EnsemblGRCh38hg38GRCh38
GRCh371949,468,566 - 49,470,136 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,160,378 - 54,161,948 (+)NCBINCBI36Build 36hg18NCBI36
Build 341954,160,377 - 54,161,947NCBI
Celera1946,335,916 - 46,337,486 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,845,481 - 45,847,051 (+)NCBIHuRef
CHM1_11949,470,772 - 49,472,342 (+)NCBICHM1_1
T2T-CHM13v2.01951,960,189 - 51,961,759 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
(1->4)-beta-D-glucan  (ISO)
(E)-cinnamyl alcohol  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1-aminobenzotriazole  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (EXP)
2,4-diaminotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-phenylprop-2-enal  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
5-(hydroxymethyl)cytosine  (EXP)
5-azacytidine  (ISO)
5-Hydroxythalidomide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7beta-aminocephalosporanic acid  (EXP)
[6]-Shogaol  (EXP)
acrolein  (EXP,ISO)
acrylamide  (EXP)
alcohol  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-hexylcinnamaldehyde  (EXP)
alpha-phellandrene  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
aniline  (ISO)
antimonite  (EXP)
antimycin A  (EXP)
apigenin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
bafilomycin A1  (EXP)
Bandrowski's base  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoic acid  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
cadmium acetate  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
chloroquine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cinnamyl alcohol  (EXP)
cisplatin  (EXP)
citraconic acid  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclophosphamide  (ISO)
D-glucose  (EXP,ISO)
deguelin  (EXP)
desferrioxamine B  (EXP,ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dicyclanil  (ISO)
dimethyl fumarate  (EXP)
dimethylarsinic acid  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (EXP,ISO)
disulfiram  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
elesclomol  (EXP)
ellipticine  (EXP)
endosulfan  (ISO)
epichlorohydrin  (EXP)
erastin  (EXP)
ethanol  (EXP,ISO)
Ethyl maltol  (EXP)
etoposide  (EXP)
eugenol  (EXP)
fenpyroximate  (EXP)
ferric ammonium citrate  (EXP,ISO)
ferrostatin-1  (EXP,ISO)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fumonisin B1  (ISO)
gallium nitrate  (EXP)
gentamycin  (ISO)
ginkgetin  (EXP,ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
hemin  (EXP,ISO)
hexamethylene diisocyanate  (EXP)
hexane  (EXP)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
inulin  (ISO)
iron atom  (EXP,ISO)
iron dichloride  (EXP)
iron(0)  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (EXP,ISO)
iron(III) citrate  (EXP)
isoeugenol  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
lithocholic acid  (EXP)
manganese(II) chloride  (ISO)
menadione  (EXP)
mercaptopurine  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methyl salicylate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methylnicotinate  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitric oxide  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenacetin  (ISO)
phenethyl caffeate  (ISO)
phenethyl isothiocyanate  (EXP)
phenylhydrazine  (ISO)
phenylmercury acetate  (EXP)
phosphorus atom  (EXP,ISO)
phosphorus(.)  (EXP,ISO)
picoxystrobin  (EXP)
potassium dichromate  (ISO)
potassium nitrate  (EXP)
propan-2-ol  (EXP)
purine-6-thiol  (ISO)
quercetin  (ISO)
rac-1,2-dichloropropane  (ISO)
rac-lactic acid  (EXP)
razoxane  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salinomycin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloro-1,4-benzoquinone  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
thiram  (EXP)
trans-isoeugenol  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal basal ganglia morphology  (IAGP)
Abnormal caudate nucleus morphology  (IAGP)
Abnormal circulating iron concentration  (IAGP)
Abnormal dentate nucleus morphology  (IAGP)
Abnormal putamen morphology  (IAGP)
Abnormal thalamic MRI signal intensity  (IAGP)
Abnormal transferrin saturation  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Adult onset  (IAGP)
Alopecia  (IAGP)
Anarthria  (IAGP)
Anterior subcapsular cataract  (IAGP)
Arm dystonia  (IAGP)
Arthralgia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blepharospasm  (IAGP)
Bradykinesia  (IAGP)
Brisk reflexes  (IAGP)
Cataract  (IAGP)
Caudate atrophy  (IAGP)
Cavitation of the basal ganglia  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cognitive impairment  (IAGP)
Decreased circulating ferritin concentration  (IAGP)
Decreased transferrin saturation  (IAGP)
Dementia  (IAGP)
Disinhibition  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dystonia  (IAGP)
Elevated hepatic iron concentration  (IAGP)
Emotional lability  (IAGP)
Eye of the tiger anomaly of globus pallidus  (IAGP)
Fatigue  (IAGP)
Focal dystonia  (IAGP)
Fragile nails  (IAGP)
Frontal lobe dementia  (IAGP)
Gait disturbance  (IAGP)
Generalized-onset seizure  (IAGP)
Hyperreflexia  (IAGP)
Hypomimic face  (IAGP)
Impaired smooth pursuit  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased CSF protein concentration  (IAGP)
Involuntary movements  (IAGP)
Iron accumulation in brain  (IAGP)
Iron accumulation in substantia nigra  (IAGP)
Juvenile onset  (IAGP)
Laryngeal dystonia  (IAGP)
Leg dystonia  (IAGP)
Loss of voice  (IAGP)
Lower limb hyperreflexia  (IAGP)
Micrographia  (IAGP)
Middle age onset  (IAGP)
Mutism  (IAGP)
Neurodegeneration  (IAGP)
Nuclear cataract  (IAGP)
Orofacial dyskinesia  (IAGP)
Palatal tremor  (IAGP)
Parkinsonism  (IAGP)
Progressive  (IAGP)
Psychosis  (IAGP)
Pulverulent cataract  (IAGP)
Resting tremor  (IAGP)
Restless legs  (IAGP)
Rigidity  (IAGP)
Spasticity  (IAGP)
Subcortical dementia  (IAGP)
T2 hypointense thalamus  (IAGP)
Tremor  (IAGP)
Upgaze palsy  (IAGP)
Upper limb hyperreflexia  (IAGP)
Weak voice  (IAGP)
Writer's cramp  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene. Barbeito AG, etal., J Neurochem. 2009 May;109(4):1067-78. Epub 2009 Mar 30.
2. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Chinnery PF, etal., Brain. 2007 Jan;130(Pt 1):110-9. Epub 2006 Dec 2.
3. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Curtis AR, etal., Nat Genet. 2001 Aug;28(4):350-4.
4. Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Devos D, etal., Brain. 2009 Jun;132(Pt 6):e109. Epub 2008 Oct 14.
5. Biology of ferritin in mammals: an update on iron storage, oxidative damage and neurodegeneration. Finazzi D and Arosio P, Arch Toxicol. 2014 Oct;88(10):1787-802. doi: 10.1007/s00204-014-1329-0. Epub 2014 Aug 15.
6. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Girelli D, etal., Blood. 1997 Sep 1;90(5):2084-8.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Using IL-2R/lymphocytes for predicting the clinical progression of patients with COVID-19. Hou H, etal., Clin Exp Immunol. 2020 Jul;201(1):76-84. doi: 10.1111/cei.13450. Epub 2020 May 15.
9. A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. Kubota A, etal., Mov Disord. 2009 Feb 15;24(3):441-5.
10. Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease. Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
11. Hereditary Hyperferritinemia Cataract Syndrome: Clinical, Genetic, and Laboratory Findings in 5 Families. Nonnenmacher L, etal., Klin Padiatr. 2011 Oct 21.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. Vidal R, etal., J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80.
18. The clinical characteristics and outcomes of patients with diabetes and secondary hyperglycaemia with coronavirus disease 2019: A single-centre, retrospective, observational study in Wuhan. Zhang Y, etal., Diabetes Obes Metab. 2020 May 14. doi: 10.1111/dom.14086.
Additional References at PubMed
PMID:659425   PMID:2821803   PMID:3000916   PMID:3023856   PMID:3291676   PMID:3754330   PMID:3840162   PMID:3857215   PMID:3858810   PMID:6572903   PMID:6653779   PMID:7492760  
PMID:7493028   PMID:7575610   PMID:8041631   PMID:8554925   PMID:8630420   PMID:8636399   PMID:8706699   PMID:8764614   PMID:8781450   PMID:8864140   PMID:9119260   PMID:9169099  
PMID:9196065   PMID:9226182   PMID:9414300   PMID:9414313   PMID:9457670   PMID:9526618   PMID:10491119   PMID:10753629   PMID:10759702   PMID:10828006   PMID:11031247   PMID:11252894  
PMID:11591653   PMID:11783942   PMID:11849230   PMID:12071855   PMID:12199804   PMID:12200611   PMID:12387819   PMID:12459518   PMID:12477932   PMID:12646258   PMID:12746423   PMID:14615048  
PMID:15231747   PMID:15231748   PMID:15390032   PMID:15489334   PMID:15727900   PMID:15835264   PMID:16116125   PMID:16169070   PMID:16189514   PMID:16217041   PMID:16222695   PMID:16252260  
PMID:16289162   PMID:16790936   PMID:16822677   PMID:16858508   PMID:17116749   PMID:17143515   PMID:17459943   PMID:17601350   PMID:17660802   PMID:17761032   PMID:17970701   PMID:18061976  
PMID:18160403   PMID:18407958   PMID:18413574   PMID:18486613   PMID:18586377   PMID:18621011   PMID:18624398   PMID:18665827   PMID:18755684   PMID:18977241   PMID:19056867   PMID:19176363  
PMID:19254706   PMID:19318681   PMID:19781644   PMID:19787796   PMID:19923220   PMID:19946888   PMID:20088381   PMID:20159981   PMID:20301320   PMID:20301334   PMID:20345975   PMID:20381070  
PMID:20471030   PMID:20689807   PMID:21029774   PMID:21103663   PMID:21139976   PMID:21516116   PMID:21541272   PMID:21555518   PMID:21696736   PMID:21800051   PMID:21873635   PMID:21907119  
PMID:22117997   PMID:22248276   PMID:22348978   PMID:22359459   PMID:22535864   PMID:22760008   PMID:22863883   PMID:22871034   PMID:22939629   PMID:23029420   PMID:23080069   PMID:23119080  
PMID:23275563   PMID:23300545   PMID:23376485   PMID:23381919   PMID:23421845   PMID:23443559   PMID:23447832   PMID:23463506   PMID:23533145   PMID:23592921   PMID:23685131   PMID:23699174  
PMID:23874603   PMID:23892696   PMID:23969999   PMID:24022025   PMID:24195075   PMID:24306042   PMID:24512320   PMID:24705354   PMID:24821637   PMID:24825732   PMID:24983587   PMID:25162662  
PMID:25327288   PMID:25416956   PMID:25447222   PMID:25476789   PMID:25502805   PMID:25720123   PMID:25910212   PMID:25976471   PMID:26186194   PMID:26209609   PMID:26514267   PMID:26518749  
PMID:26602884   PMID:26611853   PMID:26871431   PMID:26994418   PMID:27096259   PMID:27107014   PMID:27170377   PMID:27372204   PMID:27390880   PMID:27611581   PMID:27804118   PMID:28202724  
PMID:28289076   PMID:28514442   PMID:28585071   PMID:28597972   PMID:28636169   PMID:28636371   PMID:28862225   PMID:28993630   PMID:29046127   PMID:29229926   PMID:29452533   PMID:29729700  
PMID:29771443   PMID:30325535   PMID:30391537   PMID:30552136   PMID:30610587   PMID:30720039   PMID:30986045   PMID:31178527   PMID:31211687   PMID:31232044   PMID:31414986   PMID:31513212  
PMID:31515488   PMID:31536960   PMID:31675755   PMID:32203223   PMID:32240239   PMID:32241646   PMID:32296183   PMID:32513696   PMID:32608971   PMID:32625166   PMID:32645077   PMID:32677981  
PMID:32681031   PMID:32694731   PMID:32700561   PMID:32705249   PMID:32814053   PMID:32877424   PMID:32989298   PMID:33249617   PMID:33545068   PMID:33548513   PMID:33595184   PMID:33731140  
PMID:33864445   PMID:33961781   PMID:34080727   PMID:34155536   PMID:34265052   PMID:34535730   PMID:34789084   PMID:35013218   PMID:35140242   PMID:35831314   PMID:36215168   PMID:36244648  
PMID:36446230   PMID:37118836   PMID:38334954   PMID:38803224  


Genomics

Comparative Map Data
FTL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,965,309 - 48,966,879 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1948,965,309 - 48,967,896 (+)EnsemblGRCh38hg38GRCh38
GRCh371949,468,566 - 49,470,136 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,160,378 - 54,161,948 (+)NCBINCBI36Build 36hg18NCBI36
Build 341954,160,377 - 54,161,947NCBI
Celera1946,335,916 - 46,337,486 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,845,481 - 45,847,051 (+)NCBIHuRef
CHM1_11949,470,772 - 49,472,342 (+)NCBICHM1_1
T2T-CHM13v2.01951,960,189 - 51,961,759 (+)NCBIT2T-CHM13v2.0
Ftl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,107,368 - 45,109,310 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,107,368 - 45,109,308 (-)EnsemblGRCm39 Ensembl
GRCm38745,457,944 - 45,459,886 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,457,944 - 45,459,884 (-)EnsemblGRCm38mm10GRCm38
MGSCv37752,713,314 - 52,715,256 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36745,325,990 - 45,327,877 (-)NCBIMGSCv36mm8
Celera740,913,993 - 40,915,936 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.32NCBI
Ftl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,072,858 - 105,074,705 (-)NCBIGRCr8
mRatBN7.2195,936,387 - 95,938,234 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1044,257,727 - 44,258,273 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl195,936,387 - 95,939,725 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl261,543,323 - 61,578,556 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1101,321,817 - 101,323,664 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,794,493 - 109,796,340 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,084,890 - 103,086,737 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,448,190 - 101,450,034 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01102,527,136 - 102,528,980 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,929,248 - 95,931,092 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1196,007,368 - 96,009,121 (-)NCBI
Celera190,192,302 - 90,194,146 (-)NCBICelera
Cytogenetic Map1q22NCBI
Ftl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555591,691,722 - 1,693,381 (-)NCBIChiLan1.0ChiLan1.0
FTL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,069,027 - 55,071,900 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11956,996,423 - 56,998,031 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01945,966,431 - 45,968,015 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11954,788,853 - 54,790,466 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1954,788,854 - 54,790,465 (-)Ensemblpanpan1.1panPan2
FTL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,418,457 - 107,419,923 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,418,458 - 107,419,923 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,941,044 - 106,942,510 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01107,943,144 - 107,944,610 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,943,145 - 107,944,610 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11107,610,673 - 107,612,136 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,257,026 - 107,258,492 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01108,092,628 - 108,094,094 (-)NCBIUU_Cfam_GSD_1.0
Ftl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,358,130 - 21,359,683 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366642,976,314 - 2,977,877 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366642,976,325 - 2,977,878 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FTL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,231,172 - 54,232,750 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,231,121 - 54,232,756 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,095,907 - 50,097,543 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FTL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,196,682 - 42,198,575 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,196,538 - 42,199,614 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607322,081,812 - 22,099,843 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ftl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248325,046,208 - 5,047,828 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248325,046,207 - 5,047,828 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FTL
150 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) single nucleotide variant FTL-related disorder [RCV004751285]|Hereditary hyperferritinemia with congenital cataracts [RCV000395171]|Hereditary hyperferritinemia with congenital cataracts [RCV003103735]|Neuroferritinopathy [RCV000311515]|not provided [RCV000861621]|not specified [RCV003323416]|sporadic abdominal aortic aneurysm [RCV000144502] Chr19:48965836 [GRCh38]
Chr19:49469093 [GRCh37]
Chr19:19q13.33		 likely pathogenic|benign|likely benign|uncertain significance
NM_000146.4(FTL):c.163T>C (p.Leu55=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000370536]|Hereditary hyperferritinemia with congenital cataracts [RCV000369896]|Hereditary hyperferritinemia with congenital cataracts [RCV001516688]|L-ferritin deficiency [RCV001701526]|Neuroferritinopathy [RCV000315169]|not provided [RCV000839535]|not specified [RCV000146000]|sporadic abdominal aortic aneurysm [RCV000144503] Chr19:48965830 [GRCh38]
Chr19:49469087 [GRCh37]
Chr19:19q13.33		 likely pathogenic|benign
NM_000146.4(FTL):c.-182C>T single nucleotide variant not specified [RCV003479167] Chr19:48965326 [GRCh38]
Chr19:49468583 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
FTL, 1-BP INS, 460A insertion Neuroferritinopathy [RCV000017947] Chr19:19q13.3-q13.4 pathogenic
NM_000146.4(FTL):c.498_499dup (p.Phe167fs) microsatellite Neuroferritinopathy [RCV000017951] Chr19:48966701..48966702 [GRCh38]
Chr19:49469958..49469959 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-160A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000017938]|Hereditary hyperferritinemia with congenital cataracts [RCV001061778]|not provided [RCV002274882] Chr19:48965348 [GRCh38]
Chr19:49468605 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-159G>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000017939] Chr19:48965349 [GRCh38]
Chr19:49468606 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-168G>A single nucleotide variant FTL-related disorder [RCV004751214]|Hereditary hyperferritinemia with congenital cataracts [RCV000017940]|Hereditary hyperferritinemia with congenital cataracts [RCV001380757]|not provided [RCV001723575] Chr19:48965340 [GRCh38]
Chr19:49468597 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-189_-161del deletion Hereditary hyperferritinemia with congenital cataracts [RCV000017942] Chr19:48965318..48965346 [GRCh38]
Chr19:49468575..49468603 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-168G>T single nucleotide variant FTL-related disorder [RCV003398536]|Hereditary hyperferritinemia with congenital cataracts [RCV000017943]|Hereditary hyperferritinemia with congenital cataracts [RCV001386171]|not provided [RCV001093251] Chr19:48965340 [GRCh38]
Chr19:49468597 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-161C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000017944]|Hereditary hyperferritinemia with congenital cataracts [RCV001036071]|Hereditary hyperferritinemia with congenital cataracts [RCV002482882]|not provided [RCV004597729] Chr19:48965347 [GRCh38]
Chr19:49468604 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.-164C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000017945]|Hereditary hyperferritinemia with congenital cataracts [RCV000817309] Chr19:48965344 [GRCh38]
Chr19:49468601 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.-149G>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000017946]|Hereditary hyperferritinemia with congenital cataracts [RCV002482883]|Hereditary hyperferritinemia with congenital cataracts [RCV003764586] Chr19:48965359 [GRCh38]
Chr19:49468616 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.-175_-170del deletion Hereditary hyperferritinemia with congenital cataracts [RCV000017948] Chr19:48965330..48965335 [GRCh38]
Chr19:49468587..49468592 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-168G>C single nucleotide variant FTL-related disorder [RCV004751215]|Hereditary hyperferritinemia with congenital cataracts [RCV000017949]|Hereditary hyperferritinemia with congenital cataracts [RCV002513089]|not provided [RCV003231107] Chr19:48965340 [GRCh38]
Chr19:49468597 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.286G>A (p.Ala96Thr) single nucleotide variant Neuroferritinopathy [RCV000017950] Chr19:48966317 [GRCh38]
Chr19:49469574 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.469_484dup (p.Leu162fs) duplication Neuroferritinopathy [RCV000017952] Chr19:48966675..48966676 [GRCh38]
Chr19:49469932..49469933 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.458dup (p.His153fs) duplication Neuroferritinopathy [RCV000017953] Chr19:48966664..48966665 [GRCh38]
Chr19:49469921..49469922 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.89C>T (p.Thr30Ile) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000032783] Chr19:48965596 [GRCh38]
Chr19:49468853 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_000146.4(FTL):c.1A>G (p.Met1Val) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001857397]|L-ferritin deficiency [RCV000082857]|not provided [RCV003884347]|not specified [RCV004586545] Chr19:48965508 [GRCh38]
Chr19:49468765 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000146.4(FTL):c.310G>T (p.Glu104Ter) single nucleotide variant Inborn genetic diseases [RCV002513857]|L-ferritin deficiency, autosomal recessive [RCV000082858] Chr19:48966341 [GRCh38]
Chr19:49469598 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-164C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000082859] Chr19:48965344 [GRCh38]
Chr19:49468601 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.*8C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000327111]|Neuroferritinopathy [RCV000145999] Chr19:48966743 [GRCh38]
Chr19:49470000 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000146.4(FTL):c.-46C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000405174]|Hereditary hyperferritinemia with congenital cataracts [RCV001859952]|Neuroferritinopathy [RCV000280711] Chr19:48965462 [GRCh38]
Chr19:49468719 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.522C>T (p.His174=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000271711]|Hereditary hyperferritinemia with congenital cataracts [RCV000860900]|Neuroferritinopathy [RCV000366284]|not provided [RCV001200237]|not specified [RCV001723916] Chr19:48966729 [GRCh38]
Chr19:49469986 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_000146.4(FTL):c.*131A>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000283858]|Neuroferritinopathy [RCV000378331] Chr19:48966866 [GRCh38]
Chr19:49470123 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.73C>T (p.Leu25=) single nucleotide variant FTL-related disorder [RCV003940317]|Hereditary hyperferritinemia with congenital cataracts [RCV000395341]|Hereditary hyperferritinemia with congenital cataracts [RCV002523072]|Neuroferritinopathy [RCV000336294]|not provided [RCV000861279] Chr19:48965580 [GRCh38]
Chr19:49468837 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_000146.4(FTL):c.*24C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000323478]|Neuroferritinopathy [RCV000268371] Chr19:48966759 [GRCh38]
Chr19:49470016 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_000146.4(FTL):c.92A>G (p.Tyr31Cys) single nucleotide variant not provided [RCV000585013] Chr19:48965599 [GRCh38]
Chr19:49468856 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.250-6A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001130968]|Hereditary hyperferritinemia with congenital cataracts [RCV001453279]|Neuroferritinopathy [RCV001130967]|not provided [RCV000488041] Chr19:48966275 [GRCh38]
Chr19:49469532 [GRCh37]
Chr19:19q13.33		 benign|likely benign|uncertain significance
NM_002103.5(GYS1):c.*301G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000304771]|Hereditary hyperferritinemia with congenital cataracts [RCV000308508]|Neuroferritinopathy [RCV000390061] Chr19:48968987 [GRCh38]
Chr19:49472244 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.*370A>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394546]|Hereditary hyperferritinemia with congenital cataracts [RCV000312141]|Neuroferritinopathy [RCV000366661] Chr19:48968918 [GRCh38]
Chr19:49472175 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.*868A>G single nucleotide variant FTL-related disorder [RCV003897755]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000351727]|Hereditary hyperferritinemia with congenital cataracts [RCV000359249]|Neuroferritinopathy [RCV000320960] Chr19:48968420 [GRCh38]
Chr19:49471677 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) single nucleotide variant GYS1-related disorder [RCV003950317]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000963024]|Hereditary hyperferritinemia with congenital cataracts [RCV000359703]|Neuroferritinopathy [RCV000323667]|not provided [RCV003409562]|not specified [RCV000417882] Chr19:48969459 [GRCh38]
Chr19:49472716 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002103.5(GYS1):c.*659C>T single nucleotide variant FTL-related disorder [RCV003897756]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394568]|Hereditary hyperferritinemia with congenital cataracts [RCV000384998]|Neuroferritinopathy [RCV000328102] Chr19:48968629 [GRCh38]
Chr19:49471886 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_000146.4(FTL):c.-92T>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000339129]|Hereditary hyperferritinemia with congenital cataracts [RCV003765907]|Neuroferritinopathy [RCV000284053] Chr19:48965416 [GRCh38]
Chr19:49468673 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*421A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130379]|Hereditary hyperferritinemia with congenital cataracts [RCV000394121]|Neuroferritinopathy [RCV000351852] Chr19:48968867 [GRCh38]
Chr19:49472124 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.*908G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000278073]|Hereditary hyperferritinemia with congenital cataracts [RCV000263403]|Neuroferritinopathy [RCV000355645]|not provided [RCV001785575] Chr19:48968380 [GRCh38]
Chr19:49471637 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000355806]|Hereditary hyperferritinemia with congenital cataracts [RCV000264999]|Neuroferritinopathy [RCV000319738]|not provided [RCV001705495] Chr19:48969489 [GRCh38]
Chr19:49472746 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.*841A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000387720]|Hereditary hyperferritinemia with congenital cataracts [RCV000266955]|Neuroferritinopathy [RCV000324564]|not provided [RCV001778920] Chr19:48968447 [GRCh38]
Chr19:49471704 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) single nucleotide variant GYS1-related disorder [RCV004751472]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000303344]|Hereditary hyperferritinemia with congenital cataracts [RCV000268611]|Neuroferritinopathy [RCV000363216] Chr19:48969295 [GRCh38]
Chr19:49472552 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_000146.4(FTL):c.370_373del (p.Pro124fs) deletion not provided [RCV000522692] Chr19:48966400..48966403 [GRCh38]
Chr19:49469657..49469660 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.*450G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000344476]|Hereditary hyperferritinemia with congenital cataracts [RCV000394131]|Neuroferritinopathy [RCV000278136]|not provided [RCV002051841] Chr19:48968838 [GRCh38]
Chr19:49472095 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000276081]|Hereditary hyperferritinemia with congenital cataracts [RCV000389587]|Neuroferritinopathy [RCV000316270]|not provided [RCV001706535] Chr19:48969817 [GRCh38]
Chr19:49473074 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1926G>A (p.Val642=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000373018]|Hereditary hyperferritinemia with congenital cataracts [RCV000374442]|Neuroferritinopathy [RCV000279916]|not provided [RCV004703797]|not specified [RCV000421901] Chr19:48969576 [GRCh38]
Chr19:49472833 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.*611C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130377]|Hereditary hyperferritinemia with congenital cataracts [RCV000281817]|Neuroferritinopathy [RCV000336803] Chr19:48968677 [GRCh38]
Chr19:49471934 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.*725C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000348400]|Hereditary hyperferritinemia with congenital cataracts [RCV000381402]|Neuroferritinopathy [RCV000289397]|not provided [RCV001672557] Chr19:48968563 [GRCh38]
Chr19:49471820 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) single nucleotide variant GYS1-related disorder [RCV003940318]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000333417]|Hereditary hyperferritinemia with congenital cataracts [RCV000386131]|Neuroferritinopathy [RCV000291234]|not provided [RCV001706536] Chr19:48970958 [GRCh38]
Chr19:49474215 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000645191]|Hereditary hyperferritinemia with congenital cataracts [RCV000350253]|Neuroferritinopathy [RCV000295273]|not provided [RCV004703913]|not specified [RCV000424879] Chr19:48970606 [GRCh38]
Chr19:49473863 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.*1113_*1116del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000320078]|Hereditary hyperferritinemia with congenital cataracts [RCV000400213]|Neuroferritinopathy [RCV000298481]|not provided [RCV001859953] Chr19:48968172..48968175 [GRCh38]
Chr19:49471429..49471432 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
GRCh37/hg19 19q13.33(chr19:49447713-49470073)x1 copy number loss not provided [RCV000752724] Chr19:49447713..49470073 [GRCh37]
Chr19:19q13.33		 benign
FTL, -182C-T AND -178T-G single nucleotide variant Hyperferritinemia cataract syndrome [RCV000017941] Chr19:19q13.33 pathogenic
NM_000146.4(FTL):c.207G>A (p.Met69Ile) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002524039]|not provided [RCV000493330] Chr19:48965874 [GRCh38]
Chr19:49469131 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.194G>A (p.Arg65His) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000641706] Chr19:48965861 [GRCh38]
Chr19:49469118 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_000146.4(FTL):c.254C>T (p.Pro85Leu) single nucleotide variant Inborn genetic diseases [RCV003281357] Chr19:48966285 [GRCh38]
Chr19:49469542 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000146.4(FTL):c.96C>T (p.Leu32=) single nucleotide variant not provided [RCV000513104] Chr19:48965603 [GRCh38]
Chr19:49468860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.436G>A (p.Gly146Ser) single nucleotide variant not provided [RCV000658847] Chr19:48966643 [GRCh38]
Chr19:49469900 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.502G>T (p.Glu168Ter) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000685530] Chr19:48966709 [GRCh38]
Chr19:49469966 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49389934-49477474)x1 copy number loss not provided [RCV000752723] Chr19:49389934..49477474 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000146.4(FTL):c.250-126G>A single nucleotide variant not provided [RCV001565852] Chr19:48966155 [GRCh38]
Chr19:49469412 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.103-14A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001135292]|Neuroferritinopathy [RCV001135293] Chr19:48965756 [GRCh38]
Chr19:49469013 [GRCh37]
Chr19:19q13.33		 benign
NM_000146.4(FTL):c.520C>T (p.His174Tyr) single nucleotide variant FTL-related disorder [RCV004751848]|Hereditary hyperferritinemia with congenital cataracts [RCV002068707]|Inborn genetic diseases [RCV002549620] Chr19:48966727 [GRCh38]
Chr19:49469984 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.249+3A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001066371] Chr19:48965919 [GRCh38]
Chr19:49469176 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.87C>T (p.Tyr29=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001425532] Chr19:48965594 [GRCh38]
Chr19:49468851 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.376C>G (p.Leu126Val) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000811916] Chr19:48966583 [GRCh38]
Chr19:49469840 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.(?_48966261)_(48966755_?)del deletion Hereditary hyperferritinemia with congenital cataracts [RCV000816613] Chr19:48966261..48966755 [GRCh38]
Chr19:49469518..49470012 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003768460]|not provided [RCV003411724]|not specified [RCV000784897] Chr19:48965857 [GRCh38]
Chr19:49469114 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-86C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001133800]|Neuroferritinopathy [RCV001133801] Chr19:48965422 [GRCh38]
Chr19:49468679 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.*76G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001133927]|Neuroferritinopathy [RCV001133928] Chr19:48966811 [GRCh38]
Chr19:49470068 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-157G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV000802043] Chr19:48965351 [GRCh38]
Chr19:49468608 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_000146.4(FTL):c.103-14A>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001135291]|Neuroferritinopathy [RCV001135290] Chr19:48965756 [GRCh38]
Chr19:49469013 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001130255]|Neuroferritinopathy [RCV001130256] Chr19:48965848 [GRCh38]
Chr19:49469105 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001130258]|Neuroferritinopathy [RCV001130257] Chr19:48965899 [GRCh38]
Chr19:49469156 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.324C>T (p.Asn108=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001130970]|Neuroferritinopathy [RCV001130969] Chr19:48966355 [GRCh38]
Chr19:49469612 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_000146.4(FTL):c.-167C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001238029]|Hereditary hyperferritinemia with congenital cataracts [RCV002290654] Chr19:48965341 [GRCh38]
Chr19:49468598 [GRCh37]
Chr19:19q13.33		 pathogenic
NC_000019.10:g.48965095C>A single nucleotide variant FTL-related disorder [RCV003980818]|not provided [RCV001639481] Chr19:48965095 [GRCh38]
Chr19:49468352 [GRCh37]
Chr19:19q13.33		 benign
NM_000146.4(FTL):c.12G>C (p.Gln4His) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001210349] Chr19:48965519 [GRCh38]
Chr19:49468776 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_000146.4(FTL):c.234C>T (p.Leu78=) single nucleotide variant FTL-related disorder [RCV003898130]|Hereditary hyperferritinemia with congenital cataracts [RCV001130965]|Hereditary hyperferritinemia with congenital cataracts [RCV003769242]|Neuroferritinopathy [RCV001130966]|not provided [RCV004717753] Chr19:48965901 [GRCh38]
Chr19:49469158 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_000146.4(FTL):c.466G>A (p.Gly156Ser) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001220297] Chr19:48966673 [GRCh38]
Chr19:49469930 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.302T>C (p.Met101Thr) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001234239] Chr19:48966333 [GRCh38]
Chr19:49469590 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-186C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001133797]|Neuroferritinopathy [RCV001133796] Chr19:48965322 [GRCh38]
Chr19:49468579 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.362G>A (p.Arg121His) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001130972]|Hereditary hyperferritinemia with congenital cataracts [RCV003769243]|Inborn genetic diseases [RCV004032287]|Neuroferritinopathy [RCV001130971]|not provided [RCV004809021] Chr19:48966393 [GRCh38]
Chr19:49469650 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_000146.4(FTL):c.-173C>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001133799]|Hereditary hyperferritinemia with congenital cataracts [RCV003769260]|Neuroferritinopathy [RCV001133798] Chr19:48965335 [GRCh38]
Chr19:49468592 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_000146.4(FTL):c.473C>T (p.Pro158Leu) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001317101] Chr19:48966680 [GRCh38]
Chr19:49469937 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.155T>G (p.Phe52Cys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001871934]|Inborn genetic diseases [RCV002548515]|not provided [RCV001356574] Chr19:48965822 [GRCh38]
Chr19:49469079 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_000146.4(FTL):c.-139C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001373431] Chr19:48965369 [GRCh38]
Chr19:49468626 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.261A>C (p.Glu87Asp) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001297871] Chr19:48966292 [GRCh38]
Chr19:49469549 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-166T>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001360710] Chr19:48965342 [GRCh38]
Chr19:49468599 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_000146.4(FTL):c.-148G>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001307245] Chr19:48965360 [GRCh38]
Chr19:49468617 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.178C>T (p.Arg60Cys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001344579] Chr19:48965845 [GRCh38]
Chr19:49469102 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48966943G>A single nucleotide variant not provided [RCV001681567] Chr19:48966943 [GRCh38]
Chr19:49470200 [GRCh37]
Chr19:19q13.33		 benign
NM_000146.4(FTL):c.299C>T (p.Ala100Val) single nucleotide variant not provided [RCV001755077] Chr19:48966330 [GRCh38]
Chr19:49469587 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.172G>T (p.Glu58Ter) single nucleotide variant not provided [RCV001727109] Chr19:48965839 [GRCh38]
Chr19:49469096 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.-105A>G single nucleotide variant not provided [RCV004784629] Chr19:48965403 [GRCh38]
Chr19:49468660 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-150C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003094061]|not provided [RCV002247206] Chr19:48965358 [GRCh38]
Chr19:49468615 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.143T>G (p.Val48Gly) single nucleotide variant not provided [RCV003237504] Chr19:48965810 [GRCh38]
Chr19:49469067 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) microsatellite Neuroferritinopathy [RCV001775440] Chr19:48966683..48966684 [GRCh38]
Chr19:49469940..49469941 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.358_375+6del deletion not provided [RCV001761267] Chr19:48966388..48966411 [GRCh38]
Chr19:49469645..49469668 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965159G>A single nucleotide variant not provided [RCV001733088] Chr19:48965159 [GRCh38]
Chr19:49468416 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.390G>C (p.Leu130=) single nucleotide variant not provided [RCV001815864] Chr19:48966597 [GRCh38]
Chr19:49469854 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-161C>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001779413] Chr19:48965347 [GRCh38]
Chr19:49468604 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.-161_-160del deletion not provided [RCV001758193] Chr19:48965346..48965347 [GRCh38]
Chr19:49468603..49468604 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.173dup (p.Lys59fs) duplication not specified [RCV001815120] Chr19:48965839..48965840 [GRCh38]
Chr19:49469096..49469097 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.139G>C (p.Gly47Arg) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002043850] Chr19:48965806 [GRCh38]
Chr19:49469063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-153G>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002041353] Chr19:48965355 [GRCh38]
Chr19:49468612 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-190C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002044027] Chr19:48965318 [GRCh38]
Chr19:49468575 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.379T>C (p.Cys127Arg) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002045647] Chr19:48966586 [GRCh38]
Chr19:49469843 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.263A>G (p.Asp88Gly) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002045829] Chr19:48966294 [GRCh38]
Chr19:49469551 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001889722] Chr19:48966730 [GRCh38]
Chr19:49469987 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-196G>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002002954] Chr19:48965312 [GRCh38]
Chr19:49468569 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-193C>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002043898] Chr19:48965315 [GRCh38]
Chr19:49468572 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965277C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001914317] Chr19:48965277 [GRCh38]
Chr19:49468534 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965263G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001963403] Chr19:48965263 [GRCh38]
Chr19:49468520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.17G>A (p.Arg6His) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002034992] Chr19:48965524 [GRCh38]
Chr19:49468781 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.139G>T (p.Gly47Cys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002037375] Chr19:48965806 [GRCh38]
Chr19:49469063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.113T>C (p.Phe38Ser) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002011379] Chr19:48965780 [GRCh38]
Chr19:49469037 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-184C>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001935441] Chr19:48965324 [GRCh38]
Chr19:49468581 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.124G>A (p.Asp42Asn) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001956619] Chr19:48965791 [GRCh38]
Chr19:49469048 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-177C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001921038] Chr19:48965331 [GRCh38]
Chr19:49468588 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.247A>G (p.Lys83Glu) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001922173] Chr19:48965914 [GRCh38]
Chr19:49469171 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.375+5G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002015970] Chr19:48966411 [GRCh38]
Chr19:49469668 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-170T>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001935663] Chr19:48965338 [GRCh38]
Chr19:49468595 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.375+4C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001899072] Chr19:48966410 [GRCh38]
Chr19:49469667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-189G>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002010817] Chr19:48965319 [GRCh38]
Chr19:49468576 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-134A>T single nucleotide variant FTL-related disorder [RCV003416589]|Hereditary hyperferritinemia with congenital cataracts [RCV001918975] Chr19:48965374 [GRCh38]
Chr19:49468631 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.492G>T (p.Glu164Asp) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001955368] Chr19:48966699 [GRCh38]
Chr19:49469956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-51dup duplication Hereditary hyperferritinemia with congenital cataracts [RCV001924854] Chr19:48965456..48965457 [GRCh38]
Chr19:49468713..49468714 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.218G>T (p.Arg73Leu) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002012367] Chr19:48965885 [GRCh38]
Chr19:49469142 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.256G>C (p.Ala86Pro) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV001917897] Chr19:48966287 [GRCh38]
Chr19:49469544 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.42G>A (p.Glu14=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002190234] Chr19:48965549 [GRCh38]
Chr19:49468806 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-121C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002109488]|not provided [RCV004763331] Chr19:48965387 [GRCh38]
Chr19:49468644 [GRCh37]
Chr19:19q13.33		 benign|uncertain significance
NM_000146.4(FTL):c.102+14A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002168292] Chr19:48965623 [GRCh38]
Chr19:49468880 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.249+9T>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002193066] Chr19:48965925 [GRCh38]
Chr19:49469182 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48965306del deletion Hereditary hyperferritinemia with congenital cataracts [RCV002076561] Chr19:48965303 [GRCh38]
Chr19:49468560 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003101327]|not specified [RCV002247845] Chr19:48966342 [GRCh38]
Chr19:49469599 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.319C>T (p.Leu107=) single nucleotide variant FTL-related disorder [RCV004752162]|Hereditary hyperferritinemia with congenital cataracts [RCV002104177] Chr19:48966350 [GRCh38]
Chr19:49469607 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.199C>T (p.Leu67=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002204153] Chr19:48965866 [GRCh38]
Chr19:49469123 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49468350)_(49481434_?)del deletion Hereditary hyperferritinemia with congenital cataracts [RCV003119414] Chr19:49468350..49481434 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.439_442dup (p.His148fs) duplication Neuroferritinopathy [RCV002269808] Chr19:48966645..48966646 [GRCh38]
Chr19:49469902..49469903 [GRCh37]
Chr19:19q13.33		 not provided
NM_000146.4(FTL):c.460dup (p.Arg154fs) duplication Hereditary hyperferritinemia with congenital cataracts [RCV003096106]|Neuroferritinopathy [RCV002269810] Chr19:48966666..48966667 [GRCh38]
Chr19:49469923..49469924 [GRCh37]
Chr19:19q13.33		 pathogenic|not provided
NM_000146.4(FTL):c.213C>A (p.Asn71Lys) single nucleotide variant not specified [RCV003236375] Chr19:48965880 [GRCh38]
Chr19:49469137 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.474G>A (p.Pro158=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003096107]|Neuroferritinopathy [RCV002269811] Chr19:48966681 [GRCh38]
Chr19:49469938 [GRCh37]
Chr19:19q13.33		 likely benign|not provided
NM_000146.4(FTL):c.442dup (p.His148fs) duplication Neuroferritinopathy [RCV002269809] Chr19:48966647..48966648 [GRCh38]
Chr19:49469904..49469905 [GRCh37]
Chr19:19q13.33		 not provided
NM_000146.4(FTL):c.-189G>C single nucleotide variant not provided [RCV002300975] Chr19:48965319 [GRCh38]
Chr19:49468576 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-24T>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002512449] Chr19:48965484 [GRCh38]
Chr19:49468741 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-111C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002726207] Chr19:48965397 [GRCh38]
Chr19:49468654 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs) indel Hereditary hyperferritinemia with congenital cataracts [RCV002903025] Chr19:48966667..48966668 [GRCh38]
Chr19:49469924..49469925 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_000146.4(FTL):c.515_516del (p.Leu172fs) microsatellite Hereditary hyperferritinemia with congenital cataracts [RCV003014830] Chr19:48966719..48966720 [GRCh38]
Chr19:49469976..49469977 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965303C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003081481] Chr19:48965303 [GRCh38]
Chr19:49468560 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.272G>T (p.Gly91Val) single nucleotide variant Inborn genetic diseases [RCV002822402] Chr19:48966303 [GRCh38]
Chr19:49469560 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.285C>T (p.Asp95=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002912559] Chr19:48966316 [GRCh38]
Chr19:49469573 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-151A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002637620] Chr19:48965357 [GRCh38]
Chr19:49468614 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002953072] Chr19:48965578 [GRCh38]
Chr19:49468835 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.501C>T (p.Phe167=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002644146] Chr19:48966708 [GRCh38]
Chr19:49469965 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-56G>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002645692] Chr19:48965452 [GRCh38]
Chr19:49468709 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-126C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003023245] Chr19:48965382 [GRCh38]
Chr19:49468639 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-153G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003041377] Chr19:48965355 [GRCh38]
Chr19:49468612 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.375+15C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002700532] Chr19:48966421 [GRCh38]
Chr19:49469678 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.430A>C (p.Lys144Gln) single nucleotide variant Inborn genetic diseases [RCV002893246] Chr19:48966637 [GRCh38]
Chr19:49469894 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.249+6T>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003084145] Chr19:48965922 [GRCh38]
Chr19:49469179 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.375T>C (p.His125=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003084204] Chr19:48966406 [GRCh38]
Chr19:49469663 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.288C>T (p.Ala96=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002932095] Chr19:48966319 [GRCh38]
Chr19:49469576 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-9C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002890913] Chr19:48965499 [GRCh38]
Chr19:49468756 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.417G>A (p.Val139=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002627843] Chr19:48966624 [GRCh38]
Chr19:49469881 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-143G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002922086] Chr19:48965365 [GRCh38]
Chr19:49468622 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.463C>T (p.Leu155=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002581037] Chr19:48966670 [GRCh38]
Chr19:49469927 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48965263G>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002899531] Chr19:48965263 [GRCh38]
Chr19:49468520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002603118] Chr19:48965856 [GRCh38]
Chr19:49469113 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.253C>T (p.Pro85Ser) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003092470] Chr19:48966284 [GRCh38]
Chr19:49469541 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.271G>T (p.Gly91Cys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV002586055] Chr19:48966302 [GRCh38]
Chr19:49469559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.402C>A (p.Phe134Leu) single nucleotide variant not provided [RCV004781459] Chr19:48966609 [GRCh38]
Chr19:49469866 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.193C>T (p.Arg65Cys) single nucleotide variant not provided [RCV003222998] Chr19:48965860 [GRCh38]
Chr19:49469117 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.296C>G (p.Ala99Gly) single nucleotide variant Inborn genetic diseases [RCV003193850] Chr19:48966327 [GRCh38]
Chr19:49469584 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.320T>G (p.Leu107Arg) single nucleotide variant Inborn genetic diseases [RCV003369417] Chr19:48966351 [GRCh38]
Chr19:49469608 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.231T>G (p.Ala77=) single nucleotide variant not specified [RCV003479612] Chr19:48965898 [GRCh38]
Chr19:49469155 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-184C>T single nucleotide variant not provided [RCV003425315] Chr19:48965324 [GRCh38]
Chr19:49468581 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.361C>T (p.Arg121Cys) single nucleotide variant not provided [RCV003457041] Chr19:48966392 [GRCh38]
Chr19:49469649 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.248A>G (p.Lys83Arg) single nucleotide variant not provided [RCV003425317] Chr19:48965915 [GRCh38]
Chr19:49469172 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.93C>T (p.Tyr31=) single nucleotide variant not provided [RCV003425316] Chr19:48965600 [GRCh38]
Chr19:49468857 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965270G>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003794992] Chr19:48965270 [GRCh38]
Chr19:49468527 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.229G>A (p.Ala77Thr) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003790615] Chr19:48965896 [GRCh38]
Chr19:49469153 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.156C>T (p.Phe52=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003794223] Chr19:48965823 [GRCh38]
Chr19:49469080 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.102G>A (p.Leu34=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003784608] Chr19:48965609 [GRCh38]
Chr19:49468866 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-10C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003804652] Chr19:48965498 [GRCh38]
Chr19:49468755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.391G>A (p.Glu131Lys) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003806687] Chr19:48966598 [GRCh38]
Chr19:49469855 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.488G>A (p.Gly163Asp) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003806835] Chr19:48966695 [GRCh38]
Chr19:49469952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-186C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003788005] Chr19:48965322 [GRCh38]
Chr19:49468579 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965301dup duplication Hereditary hyperferritinemia with congenital cataracts [RCV003804266] Chr19:48965300..48965301 [GRCh38]
Chr19:49468557..49468558 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.102+20C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003787006] Chr19:48965629 [GRCh38]
Chr19:49468886 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.376-11T>C single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003788939] Chr19:48966572 [GRCh38]
Chr19:49469829 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-95C>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003787610] Chr19:48965413 [GRCh38]
Chr19:49468670 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48965305C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003783053] Chr19:48965305 [GRCh38]
Chr19:49468562 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-144A>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003786919] Chr19:48965364 [GRCh38]
Chr19:49468621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-181G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003798192] Chr19:48965327 [GRCh38]
Chr19:49468584 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.249+4A>G single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003798728] Chr19:48965920 [GRCh38]
Chr19:49469177 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.376-15C>T single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003798661]|not specified [RCV003994588] Chr19:48966568 [GRCh38]
Chr19:49469825 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.-17CTT[1] microsatellite not specified [RCV003994905] Chr19:48965491..48965493 [GRCh38]
Chr19:49468748..49468750 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.-179G>A single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003803760] Chr19:48965329 [GRCh38]
Chr19:49468586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.336G>A (p.Leu112=) single nucleotide variant Hereditary hyperferritinemia with congenital cataracts [RCV003803476] Chr19:48966367 [GRCh38]
Chr19:49469624 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NC_000019.10:g.48968921G>A single nucleotide variant FTL-related disorder [RCV003896327] Chr19:48968921 [GRCh38]
Chr19:49472178 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.47C>T (p.Ala16Val) single nucleotide variant not specified [RCV003994900] Chr19:48965554 [GRCh38]
Chr19:49468811 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.48C>G (p.Ala16=) single nucleotide variant FTL-related disorder [RCV003936890] Chr19:48965555 [GRCh38]
Chr19:49468812 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48968167G>C single nucleotide variant FTL-related disorder [RCV003967199] Chr19:48968167 [GRCh38]
Chr19:49471424 [GRCh37]
Chr19:19q13.33		 benign
NM_000146.4(FTL):c.290T>C (p.Met97Thr) single nucleotide variant Inborn genetic diseases [RCV004387217] Chr19:48966321 [GRCh38]
Chr19:49469578 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.335T>C (p.Leu112Ser) single nucleotide variant not provided [RCV004697631] Chr19:48966366 [GRCh38]
Chr19:49469623 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_000146.4(FTL):c.388del (p.Leu130fs) deletion not provided [RCV004760144]   uncertain significance
NM_000146.4(FTL):c.-144A>G single nucleotide variant not provided [RCV004771844] Chr19:48965364 [GRCh38]
Chr19:49468621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48968927C>T single nucleotide variant FTL-related disorder [RCV004752445] Chr19:48968927 [GRCh38]
Chr19:49472184 [GRCh37]
Chr19:19q13.33		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:246
Count of miRNA genes:235
Interacting mature miRNAs:244
Transcripts:ENST00000331825
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
D19S886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719998,791 - 998,948UniSTSGRCh37
Build 3619949,791 - 949,948RGDNCBI36
Celera19931,131 - 931,286RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.3UniSTS
HuRef19772,073 - 772,228UniSTS
Marshfield Genetic Map19 RGD
Marshfield Genetic Map190.0UniSTS
Genethon Genetic Map190.0UniSTS
TNG Radiation Hybrid Map195808.0UniSTS
deCODE Assembly Map190.0UniSTS
GeneMap99-GB4 RH Map1914.62UniSTS
RH70352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,469,981 - 49,470,079UniSTSGRCh37
Build 361954,161,793 - 54,161,891RGDNCBI36
Celera1946,337,331 - 46,337,429RGD
Cytogenetic Map19q13.33UniSTS
HuRef1945,846,896 - 45,846,994UniSTS
RH65295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,539,156 - 66,539,242UniSTSGRCh37
Build 361166,295,732 - 66,295,818RGDNCBI36
Celera1163,866,720 - 63,866,806RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
HuRef1945,845,580 - 45,845,666UniSTS
RH70278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,005,068 - 4,005,217UniSTSGRCh37
GRCh371949,469,969 - 49,470,118UniSTSGRCh37
Build 361954,161,781 - 54,161,930RGDNCBI36
Celera204,066,917 - 4,067,066UniSTS
Celera1946,337,319 - 46,337,468RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map20p13UniSTS
HuRef203,953,827 - 3,953,976UniSTS
HuRef1945,846,884 - 45,847,033UniSTS
GDB:451601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,468,744 - 49,469,053UniSTSGRCh37
Build 361954,160,556 - 54,160,865RGDNCBI36
Celera1946,336,094 - 46,336,403RGD
Cytogenetic Map19q13.33UniSTS
HuRef1945,845,659 - 45,845,968UniSTS
SHGC-33021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,005,065 - 4,005,225UniSTSGRCh37
GRCh371949,469,966 - 49,470,126UniSTSGRCh37
Build 361954,161,778 - 54,161,938RGDNCBI36
Celera1946,337,316 - 46,337,476RGD
Celera204,066,914 - 4,067,074UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map19q13.33UniSTS
HuRef1945,846,881 - 45,847,041UniSTS
HuRef203,953,824 - 3,953,984UniSTS
GeneMap99-G3 RH Map19232.0UniSTS
SHGC-2666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,004,936 - 4,005,153UniSTSGRCh37
GRCh371949,469,837 - 49,470,054UniSTSGRCh37
Build 361954,161,649 - 54,161,866RGDNCBI36
Celera1946,337,187 - 46,337,404RGD
Celera204,066,785 - 4,067,002UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map19q13.33UniSTS
HuRef1945,846,752 - 45,846,969UniSTS
HuRef203,953,695 - 3,953,912UniSTS
GeneMap99-G3 RH Map20184.0UniSTS
MARC_5273-5274:996690236:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37204,004,402 - 4,004,681UniSTSGRCh37
GRCh37X30,648,251 - 30,648,532UniSTSGRCh37
Build 36X30,558,172 - 30,558,453RGDNCBI36
CeleraX34,769,816 - 34,770,097RGD
Celera204,066,251 - 4,066,530UniSTS
HuRef203,953,161 - 3,953,440UniSTS
HuRefX28,384,606 - 28,384,887UniSTS
RH79582  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.33UniSTS
HuRef1945,846,063 - 45,846,842UniSTS
GeneMap99-GB4 RH Map2012.09UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB331171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB331707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB332038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB332039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY207005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY466472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY660755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX571748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ094830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ094831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC153429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000331825   ⟹   ENSP00000366525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,965,309 - 48,966,879 (+)Ensembl
Ensembl Acc Id: ENST00000718269   ⟹   ENSP00000520709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,965,309 - 48,967,896 (+)Ensembl
RefSeq Acc Id: NM_000146   ⟹   NP_000137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,965,309 - 48,966,879 (+)NCBI
GRCh371949,467,659 - 49,470,136 (+)NCBI
Build 361954,160,378 - 54,161,948 (+)NCBI Archive
HuRef1945,845,481 - 45,847,051 (+)ENTREZGENE
CHM1_11949,470,772 - 49,472,342 (+)NCBI
T2T-CHM13v2.01951,960,189 - 51,961,759 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000137 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35831 (Get FASTA)   NCBI Sequence Viewer  
  AAA52439 (Get FASTA)   NCBI Sequence Viewer  
  AAA52440 (Get FASTA)   NCBI Sequence Viewer  
  AAH02991 (Get FASTA)   NCBI Sequence Viewer  
  AAH04245 (Get FASTA)   NCBI Sequence Viewer  
  AAH08439 (Get FASTA)   NCBI Sequence Viewer  
  AAH13928 (Get FASTA)   NCBI Sequence Viewer  
  AAH16346 (Get FASTA)   NCBI Sequence Viewer  
  AAH16354 (Get FASTA)   NCBI Sequence Viewer  
  AAH16715 (Get FASTA)   NCBI Sequence Viewer  
  AAH18990 (Get FASTA)   NCBI Sequence Viewer  
  AAH21670 (Get FASTA)   NCBI Sequence Viewer  
  AAH58820 (Get FASTA)   NCBI Sequence Viewer  
  AAH62708 (Get FASTA)   NCBI Sequence Viewer  
  AAO52739 (Get FASTA)   NCBI Sequence Viewer  
  AAS45711 (Get FASTA)   NCBI Sequence Viewer  
  AAT66408 (Get FASTA)   NCBI Sequence Viewer  
  AAZ04399 (Get FASTA)   NCBI Sequence Viewer  
  AAZ04400 (Get FASTA)   NCBI Sequence Viewer  
  ADO22276 (Get FASTA)   NCBI Sequence Viewer  
  AGE97216 (Get FASTA)   NCBI Sequence Viewer  
  BAG16355 (Get FASTA)   NCBI Sequence Viewer  
  BAG16356 (Get FASTA)   NCBI Sequence Viewer  
  BAG16382 (Get FASTA)   NCBI Sequence Viewer  
  BAG16383 (Get FASTA)   NCBI Sequence Viewer  
  BAG34716 (Get FASTA)   NCBI Sequence Viewer  
  CAA27382 (Get FASTA)   NCBI Sequence Viewer  
  CAA27383 (Get FASTA)   NCBI Sequence Viewer  
  CAA27384 (Get FASTA)   NCBI Sequence Viewer  
  CAA70387 (Get FASTA)   NCBI Sequence Viewer  
  CAE11873 (Get FASTA)   NCBI Sequence Viewer  
  CAG32996 (Get FASTA)   NCBI Sequence Viewer  
  EAW52422 (Get FASTA)   NCBI Sequence Viewer  
  EAW52423 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366525
  ENSP00000366525.2
GenBank Protein P02792 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000137   ⟸   NM_000146
- UniProtKB: P02792 (UniProtKB/Swiss-Prot),   Q96CU0 (UniProtKB/Swiss-Prot),   Q96AU9 (UniProtKB/Swiss-Prot),   Q8WU07 (UniProtKB/Swiss-Prot),   Q86WI9 (UniProtKB/Swiss-Prot),   Q7Z2W1 (UniProtKB/Swiss-Prot),   Q6IBT7 (UniProtKB/Swiss-Prot),   B2R4B9 (UniProtKB/Swiss-Prot),   Q9BTZ8 (UniProtKB/Swiss-Prot),   A0A384MDR3 (UniProtKB/TrEMBL),   Q6S4P3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000366525   ⟸   ENST00000331825
Ensembl Acc Id: ENSP00000520709   ⟸   ENST00000718269
Protein Domains
Ferritin-like diiron

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02792-F1-model_v2 AlphaFold P02792 1-175 view protein structure

Promoters
RGD ID:13205043
Promoter ID:EPDNEW_H26102
Type:initiation region
Name:FTL_1
Description:ferritin light chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,965,309 - 48,965,369EPDNEW
RGD ID:6795582
Promoter ID:HG_KWN:30493
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000146,   UC002PLN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,159,541 - 54,160,507 (+)MPROMDB
RGD ID:6849648
Promoter ID:EP25049
Type:single initiation site
Name:HS_FTL
Description:Ferritin light chain.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 143; Mammalian ferritin light chain.
Tissues & Cell Lines:ubiquitous, liver, placenta
Experiment Methods:Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,160,378 - 54,160,438EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3999 AgrOrtholog
COSMIC FTL COSMIC
Ensembl Genes ENSG00000087086 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000331825 ENTREZGENE
  ENST00000331825.11 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087086 GTEx
HGNC ID HGNC:3999 ENTREZGENE
Human Proteome Map FTL Human Proteome Map
InterPro Ferritin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin-like_diiron UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin-like_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin_DPS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2512 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2512 ENTREZGENE
OMIM 134790 OMIM
PANTHER FERRITIN LIGHT CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11431 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ferritin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28412 PharmGKB
PROSITE FERRITIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERRITIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERRITIN_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MDR3 ENTREZGENE, UniProtKB/TrEMBL
  B1Q387_HUMAN UniProtKB/TrEMBL
  B1Q3B3_HUMAN UniProtKB/TrEMBL
  B2R4B9 ENTREZGENE
  FRIL_HUMAN UniProtKB/Swiss-Prot
  M1KCE4_HUMAN UniProtKB/TrEMBL
  P02792 ENTREZGENE
  Q4FCH6_HUMAN UniProtKB/TrEMBL
  Q6DMM8_HUMAN UniProtKB/TrEMBL
  Q6IBT7 ENTREZGENE
  Q6S4P3 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z2W1 ENTREZGENE
  Q86WI9 ENTREZGENE
  Q8WU07 ENTREZGENE
  Q96AU9 ENTREZGENE
  Q96CU0 ENTREZGENE
  Q9BTZ8 ENTREZGENE
UniProt Secondary B2R4B9 UniProtKB/Swiss-Prot
  Q6IBT7 UniProtKB/Swiss-Prot
  Q7Z2W1 UniProtKB/Swiss-Prot
  Q86WI9 UniProtKB/Swiss-Prot
  Q8WU07 UniProtKB/Swiss-Prot
  Q96AU9 UniProtKB/Swiss-Prot
  Q96CU0 UniProtKB/Swiss-Prot
  Q9BTZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 FTL  ferritin light chain  FTL  ferritin, light polypeptide  Symbol and/or name change 5135510 APPROVED