NEFL (neurofilament light chain) - Rat Genome Database

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Gene: NEFL (neurofilament light chain) Homo sapiens
Analyze
Symbol: NEFL
Name: neurofilament light chain
RGD ID: 1344238
HGNC Page HGNC:7739
Description: Enables identical protein binding activity and protein C-terminus binding activity. A structural constituent of cytoskeleton. Involved in axonal transport and neurofilament bundle assembly. Located in axon and neurofilament. Implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Biomarker of several diseases, including Lewy body dementia; autoimmune disease (multiple); demyelinating disease (multiple); neurodegenerative disease (multiple); and prion disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 68 kDa neurofilament protein; CMT1F; CMT2E; CMTDIG; FLJ53642; light molecular weight neurofilament protein; neurofilament light; neurofilament light polypeptide; neurofilament protein, light chain; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament, light polypeptide; neurofilament, light polypeptide 68kDa; neurofilament-light; NF-L; NF68; NFL; PPP1R110
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NEFLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute disseminated encephalomyelitis  (IEP)
AIDS Dementia Complex  (IEP)
Alzheimer's disease  (IEP)
amyotrophic lateral sclerosis  (IDA,IEP,ISO)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis  (IEP)
autosomal dominant distal hereditary motor neuronopathy  (IAGP)
Charcot-Marie-Tooth disease  (IAGP)
Charcot-Marie-Tooth disease dominant intermediate G  (IAGP)
Charcot-Marie-Tooth disease type 1  (IAGP)
Charcot-Marie-Tooth disease type 1C  (IAGP)
Charcot-Marie-Tooth disease type 1F  (IAGP)
Charcot-Marie-Tooth disease type 2E  (IAGP)
congenital hypothyroidism  (ISO)
COVID-19  (IEP)
Creutzfeldt-Jakob disease  (IEP)
demyelinating disease  (IEP)
distal hereditary motor neuronopathy type 7B  (IAGP)
distal myopathy  (IAGP)
Experimental Autoimmune Encephalomyelitis  (ISO)
fatal familial insomnia  (IEP)
frontotemporal dementia  (IEP)
Frontotemporal Lobar Degeneration  (IEP)
genetic disease  (IAGP)
HIV Seropositivity  (IEP)
human immunodeficiency virus infectious disease  (IEP)
hypothyroidism  (ISO)
invasive ductal carcinoma  (IAGP)
Lewy body dementia  (IEP)
Malnutrition  (ISO)
mental depression  (ISO)
middle cerebral artery infarction  (ISO)
mild cognitive impairment  (IEP)
multiple sclerosis  (IEP)
neuromyelitis optica  (IEP)
neuropathy  (IAGP)
Neurosyphilis  (IEP)
Parkinson's disease  (IEP)
peripheral nervous system disease  (IAGP)
progressive multifocal leukoencephalopathy  (IEP)
relapsing-remitting multiple sclerosis  (IEP)
sciatic neuropathy  (ISO)
sensorineural hearing loss  (IAGP)
Sepsis  (IEP)
Sepsis-Associated Encephalopathy  (IEP)
Sjogren's syndrome  (IEP)
Spinal Cord Injuries  (ISO)
spinal muscular atrophy  (IAGP)
Sporadic Creutzfeldt-Jakob Disease  (IEP)
Stroke  (IEP)
syphilis  (IEP)
Talipes Cavus  (IAGP)
transient cerebral ischemia  (ISO)
vascular dementia  (IEP)
Wallerian Degeneration  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-methylcholine  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (EXP)
5-azacytidine  (EXP)
6-Cyano-7-nitroquinoxaline-2,3-dione  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
aluminium sulfate (anhydrous)  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
atrazine  (EXP)
azoxystrobin  (EXP)
BAPTA  (ISO)
belinostat  (EXP)
Benzamil  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
Calpeptin  (ISO)
calyculin a  (ISO)
carbon disulfide  (ISO)
chloroethene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
coenzyme Q10  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
Cuprizon  (ISO)
cycloheximide  (ISO)
cyfluthrin  (EXP)
cypermethrin  (EXP)
daidzein 7-O-beta-D-glucoside  (ISO)
dantrolene  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diuron  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glyburide  (ISO)
Heptachlor epoxide  (ISO)
hydrogen sulfide  (ISO)
idebenone  (ISO)
indometacin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
KN-93  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leupeptin  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
memantine  (ISO)
mercury dibromide  (EXP)
methylmercury chloride  (EXP,ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-D-aspartic acid  (ISO)
N-Nitrosopyrrolidine  (EXP)
nicardipine  (ISO)
nifedipine  (ISO)
Nilvadipine  (ISO)
O-methyleugenol  (EXP)
ouabain  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentanal  (EXP)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
propanal  (EXP)
pyridoxine  (ISO)
raloxifene  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
staurosporine  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
terbutaline  (ISO)
tetrachloroethene  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trifluoperazine  (ISO)
trimethyltin  (ISO)
U-73122  (ISO)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vorinostat  (EXP)
Z-Val-Phe-H  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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

Human Phenotype
Abnormal motor evoked potentials  (IAGP)
Absent brainstem auditory responses  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cervical spinal cord atrophy  (IAGP)
Clusters of axonal regeneration  (IAGP)
Cognitive impairment  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of large peripheral myelinated nerve fibers  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased/absent ankle reflexes  (IAGP)
Demyelinating motor neuropathy  (IAGP)
Demyelinating sensory neuropathy  (IAGP)
Difficulty running  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Extremely elevated creatine kinase  (IAGP)
Facial palsy  (IAGP)
Fasciculations  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of finger  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gait ataxia  (IAGP)
Gowers sign  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hand muscle weakness  (IAGP)
Hand tremor  (IAGP)
Head tremor  (IAGP)
Heterogeneous  (IAGP)
High palate  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypotrophy of the small hand muscles  (IAGP)
Impaired pain sensation  (IAGP)
Impaired vibratory sensation  (IAGP)
Inability to walk  (IAGP)
Increased connective tissue  (IAGP)
Juvenile onset  (IAGP)
Limb ataxia  (IAGP)
Lower limb muscle weakness  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Myelin outfoldings  (IAGP)
Nemaline bodies  (IAGP)
Nystagmus  (IAGP)
Onion bulb formation  (IAGP)
Optic nerve hypoplasia  (IAGP)
Paresthesia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Positive Romberg sign  (IAGP)
Proximal lower limb amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Ptosis  (IAGP)
Restless legs  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Slowly progressive  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spasticity  (IAGP)
Split hand  (IAGP)
Steppage gait  (IAGP)
Talipes calcaneovalgus  (IAGP)
Tongue atrophy  (IAGP)
Ulnar claw  (IAGP)
Unsteady gait  (IAGP)
Upper limb muscle weakness  (IAGP)
Urinary incontinence  (IAGP)
Variable expressivity  (IAGP)
Waddling gait  (IAGP)
Weakness of facial musculature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Blood neurofilament light concentration at admittance: a potential prognostic marker in COVID-19. Aamodt AH, etal., J Neurol. 2021 Mar 20. pii: 10.1007/s00415-021-10517-6. doi: 10.1007/s00415-021-10517-6.
2. The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias. Abu-Rumeileh S, etal., Alzheimers Res Ther. 2018 Jan 11;10(1):3. doi: 10.1186/s13195-017-0331-1.
3. Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges. Abu-Rumeileh S, etal., Ann Neurol. 2018 Sep;84(3):347-360. doi: 10.1002/ana.25300. Epub 2018 Aug 31.
4. Diagnostic value of surrogate CSF biomarkers for Creutzfeldt-Jakob disease in the era of RT-QuIC. Abu-Rumeileh S, etal., J Neurol. 2019 Dec;266(12):3136-3143. doi: 10.1007/s00415-019-09537-0. Epub 2019 Sep 20.
5. Cerebrospinal fluid interferon alpha levels correlate with neurocognitive impairment in ambulatory HIV-Infected individuals. Anderson AM, etal., J Neurovirol. 2017 Feb;23(1):106-112. doi: 10.1007/s13365-016-0466-z. Epub 2016 Jul 11.
6. Neurofilament light chain in blood is negatively associated with neuropsychological performance in HIV-infected adults and declines with initiation of antiretroviral therapy. Anderson AM, etal., J Neurovirol. 2018 Dec;24(6):695-701. doi: 10.1007/s13365-018-0664-y. Epub 2018 Aug 13.
7. Clinical, Radiological, and Laboratory Features of Spinal Cord Involvement in Primary Sjögren's Syndrome. Butryn M, etal., J Clin Med. 2020 May 14;9(5). pii: jcm9051482. doi: 10.3390/jcm9051482.
8. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
9. Potential Role of CHI3L1+ Astrocytes in Progression in MS. Cubas-Núñez L, etal., Neurol Neuroimmunol Neuroinflamm. 2021 Mar 3;8(3). pii: 8/3/e972. doi: 10.1212/NXI.0000000000000972. Print 2021 May 4.
10. Serum neurofilaments increase at progressive multifocal leukoencephalopathy onset in natalizumab-treated multiple sclerosis patients. Dalla Costa G, etal., Ann Neurol. 2019 Apr;85(4):606-610. doi: 10.1002/ana.25437. Epub 2019 Mar 5.
11. The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study. Ehler J, etal., PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019.
12. Cytoskeleton of hippocampal neurons as a target for valproic acid in an experimental model of depression. Ferrero AJ, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2007 Oct 1;31(7):1419-28. Epub 2007 Jun 26.
13. Serum Neurofilament Levels and PML Risk in Patients With Multiple Sclerosis Treated With Natalizumab. Fissolo N, etal., Neurol Neuroimmunol Neuroinflamm. 2021 Apr 26;8(4). pii: 8/4/e1003. doi: 10.1212/NXI.0000000000001003. Print 2021 Jul.
14. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
17. Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease. Kanata E, etal., J Clin Neurosci. 2019 Feb;60:124-127. doi: 10.1016/j.jocn.2018.09.031. Epub 2018 Oct 9.
18. Neurochemical evidence of astrocytic and neuronal injury commonly found in COVID-19. Kanberg N, etal., Neurology. 2020 Sep 22;95(12):e1754-e1759. doi: 10.1212/WNL.0000000000010111. Epub 2020 Jun 16.
19. Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Kong J and Xu Z, Neurosci Lett. 2000 Mar 3;281(1):72-4.
20. Cerebrospinal fluid light and heavy neurofilament level increased in anti-N-methyl-d-aspartate receptor encephalitis. Li J, etal., Brain Behav. 2019 Aug;9(8):e01354. doi: 10.1002/brb3.1354. Epub 2019 Jul 17.
21. Increased CSF Soluble TREM2 Concentration in Patients With Neurosyphilis. Li W, etal., Front Neurol. 2020 Feb 5;11:62. doi: 10.3389/fneur.2020.00062. eCollection 2020.
22. High serum neurofilament levels among Chinese patients with aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders. Liu C, etal., J Clin Neurosci. 2021 Jan;83:108-111. doi: 10.1016/j.jocn.2020.11.016. Epub 2020 Dec 13.
23. Impaired Neurofilament Integrity and Neuronal Morphology in Different Models of Focal Cerebral Ischemia and Human Stroke Tissue. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
24. CSF neurofilament light chain reflects corticospinal tract degeneration in ALS. Menke RA, etal., Ann Clin Transl Neurol. 2015 Jul;2(7):748-55. doi: 10.1002/acn3.212. Epub 2015 May 25.
25. Cerebrospinal fluid levels of neurofilament light in chronic experimental autoimmune encephalomyelitis. Norgren N, etal., Brain Res Bull. 2005 Oct 30;67(4):264-8.
26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
27. Malnutrition induces an increase in intermediate filament protein content of rat cerebral cortex. Paz MM, etal., J Nutr. 1991 Sep;121(9):1349-54. doi: 10.1093/jn/121.9.1349.
28. Insulin deficiency rather than hyperglycemia accounts for impaired neurotrophic responses and nerve fiber regeneration in type 1 diabetic neuropathy. Pierson CR, etal., J Neuropathol Exp Neurol. 2003 Mar;62(3):260-71.
29. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
30. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
31. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
32. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
33. Thyroid hormones stimulate expression and modification of cytoskeletal protein during rat sciatic nerve regeneration. Schenker M, etal., Brain Res. 2002 Dec 13;957(2):259-70.
34. [Tetramethylpyrazine accelerated spinal cord repair through regulation of caspase-3 and neurofilament protein expression: an acute spinal cord injury model in rats]. Shen ZX, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Aug;33(8):693-9.
35. Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. Steinacker P, etal., Sci Rep. 2016 Dec 8;6:38737. doi: 10.1038/srep38737.
36. Serum Neurofilament Light Chain Levels in the Intensive Care Unit: Comparison between Severely Ill Patients with and without Coronavirus Disease 2019. Sutter R, etal., Ann Neurol. 2021 Mar;89(3):610-616. doi: 10.1002/ana.26004. Epub 2021 Jan 11.
37. Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. Tsuda M, etal., J Neurochem. 2000 Feb;74(2):860-8.
38. Persistent central nervous system immune activation following more than 10 years of effective HIV antiretroviral treatment. Ulfhammer G, etal., AIDS. 2018 Sep 24;32(15):2171-2178. doi: 10.1097/QAD.0000000000001950.
39. Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis. Verde F, etal., J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):157-164. doi: 10.1136/jnnp-2018-318704. Epub 2018 Oct 11.
40. Biomarkers for central nervous system injury in cerebrospinal fluid are elevated in COVID-19 and associated with neurological symptoms and disease severity. Virhammar J, etal., Eur J Neurol. 2020 Dec 28. doi: 10.1111/ene.14703.
41. Serum neurofilament light chain in pediatric MS and other acquired demyelinating syndromes. Wong YYM, etal., Neurology. 2019 Sep 3;93(10):e968-e974. doi: 10.1212/WNL.0000000000008057. Epub 2019 Aug 5.
42. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behavior in breast cancer. Yaremko ML, etal., Genes Chromosomes Cancer. 1996 Jul;16(3):189-95.
43. Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Zamoner A, etal., Neurotoxicology. 2008 Nov;29(6):1092-9. doi: 10.1016/j.neuro.2008.09.004. Epub 2008 Sep 18.
44. Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. Zerr I, etal., Alzheimers Dement. 2018 Jun;14(6):751-763. doi: 10.1016/j.jalz.2017.12.008. Epub 2018 Feb 3.
45. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Zuchner S, etal., Neuromuscul Disord 2004 Feb;14(2):147-57.
Additional References at PubMed
PMID:1497855   PMID:1902666   PMID:2516804   PMID:3034332   PMID:3036423   PMID:3121319   PMID:3145240   PMID:6135695   PMID:8125298   PMID:8180132   PMID:8344946   PMID:8530496  
PMID:8615909   PMID:8621664   PMID:8665664   PMID:8863508   PMID:9388258   PMID:9425014   PMID:9481670   PMID:9763415   PMID:10373510   PMID:10841809   PMID:11220745   PMID:12133495  
PMID:12226091   PMID:12231460   PMID:12403814   PMID:12432080   PMID:12477167   PMID:12477932   PMID:12481988   PMID:12566280   PMID:12730211   PMID:12815021   PMID:12837694   PMID:12911634  
PMID:14622581   PMID:14662745   PMID:15111691   PMID:15122254   PMID:15241803   PMID:15324660   PMID:15383276   PMID:15489334   PMID:15654615   PMID:15686490   PMID:15857389   PMID:16049941  
PMID:16084104   PMID:16169070   PMID:16344560   PMID:16452125   PMID:16678934   PMID:16930284   PMID:17052987   PMID:17290105   PMID:17475803   PMID:17620486   PMID:17683050   PMID:17903209  
PMID:17923616   PMID:18023247   PMID:18758688   PMID:19034380   PMID:19110265   PMID:19123978   PMID:19158810   PMID:19286384   PMID:19488899   PMID:19678766   PMID:19950375   PMID:20039262  
PMID:20086018   PMID:20201926   PMID:20213320   PMID:20301366   PMID:20301384   PMID:20301462   PMID:20301532   PMID:20381070   PMID:21039366   PMID:21044950   PMID:21197541   PMID:21653829  
PMID:21860087   PMID:21873635   PMID:21983493   PMID:22246235   PMID:22288874   PMID:22302611   PMID:22319610   PMID:22458338   PMID:22586326   PMID:22680408   PMID:22765307   PMID:23287695  
PMID:23455924   PMID:23705811   PMID:23802559   PMID:23827424   PMID:23870535   PMID:23992471   PMID:24026393   PMID:24073237   PMID:24242746   PMID:24244333   PMID:24454911   PMID:24515731  
PMID:24523921   PMID:24554482   PMID:24711643   PMID:24722188   PMID:24733614   PMID:24887401   PMID:25241761   PMID:25264603   PMID:25312269   PMID:25339208   PMID:25416956   PMID:25583183  
PMID:25605243   PMID:25724651   PMID:25877835   PMID:25934855   PMID:25959826   PMID:26016807   PMID:26186194   PMID:26209061   PMID:26460568   PMID:26524180   PMID:26645395   PMID:26801564  
PMID:26870824   PMID:26871637   PMID:27107012   PMID:27173435   PMID:27503460   PMID:27521440   PMID:27581216   PMID:27609421   PMID:27634302   PMID:27732645   PMID:27819296   PMID:27862672  
PMID:27880917   PMID:28148632   PMID:28404801   PMID:28428015   PMID:28500227   PMID:28514442   PMID:28527630   PMID:28611094   PMID:28631955   PMID:29070659   PMID:29108879   PMID:29321234  
PMID:29747637   PMID:29791485   PMID:29937097   PMID:30004022   PMID:30036759   PMID:30209243   PMID:30217938   PMID:30626432   PMID:30664784   PMID:30745168   PMID:30776989   PMID:30786919  
PMID:30951523   PMID:31123861   PMID:31129709   PMID:31151840   PMID:31182505   PMID:31199010   PMID:31295725   PMID:31391242   PMID:31420461   PMID:31514172   PMID:31516913   PMID:31586073  
PMID:31640103   PMID:31701893   PMID:31802104   PMID:31871319   PMID:31898161   PMID:31944090   PMID:32096416   PMID:32203420   PMID:32296183   PMID:32310173   PMID:32376155   PMID:32587320  
PMID:32592719   PMID:32758395   PMID:32814053   PMID:32862040   PMID:32877691   PMID:32883119   PMID:32979786   PMID:33001583   PMID:33158499   PMID:33199433   PMID:33204362   PMID:33216030  
PMID:33221749   PMID:33239751   PMID:33313663   PMID:33427873   PMID:33436881   PMID:33594224   PMID:33609080   PMID:33626531   PMID:33636389   PMID:33759425   PMID:33827960   PMID:33931805  
PMID:33961781   PMID:33963718   PMID:34079125   PMID:34099648   PMID:34120902   PMID:34151807   PMID:34278578   PMID:34311152   PMID:34398223   PMID:34433481   PMID:34728620   PMID:34843548  
PMID:34944022   PMID:35031058   PMID:35087088   PMID:35088243   PMID:35094171   PMID:35271311   PMID:35437240  


Genomics

Comparative Map Data
NEFL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBIT2T-CHM13v2.0
Nefl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391468,321,312 - 68,326,544 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1468,321,312 - 68,326,544 (+)EnsemblGRCm39 Ensembl
GRCm381468,083,863 - 68,089,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1468,083,863 - 68,089,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371468,701,941 - 68,705,802 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361467,037,214 - 67,041,075 (+)NCBIMGSCv36mm8
Celera1465,851,013 - 65,854,872 (+)NCBICelera
Cytogenetic Map14D1NCBI
Nefl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21542,301,920 - 42,305,793 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1542,301,916 - 42,305,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1544,166,607 - 44,170,480 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01545,316,823 - 45,320,696 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01543,762,173 - 43,766,046 (+)NCBIRnor_WKY
Rnor_6.01544,799,378 - 44,803,251 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,799,334 - 44,804,574 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01546,793,526 - 46,797,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,636,303 - 47,640,176 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11547,652,082 - 47,655,956 (+)NCBI
Celera1541,961,053 - 41,964,926 (+)NCBICelera
Cytogenetic Map15p12NCBI
Nefl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540347,946,353 - 47,952,026 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540347,946,413 - 47,951,734 (-)NCBIChiLan1.0ChiLan1.0
NEFL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1821,134,533 - 21,140,694 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl821,134,533 - 21,140,694 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0824,218,510 - 24,224,627 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
NEFL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12532,463,361 - 32,468,965 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2532,463,452 - 32,467,224 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2533,046,764 - 33,052,425 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02532,662,329 - 32,667,982 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2532,662,412 - 32,667,975 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12532,617,778 - 32,623,430 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02532,467,208 - 32,472,860 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02532,633,319 - 32,638,980 (+)NCBIUU_Cfam_GSD_1.0
Nefl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494310,389,433 - 10,393,833 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367571,642,122 - 1,646,499 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl148,991,331 - 8,997,112 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1148,991,321 - 8,996,900 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21410,087,492 - 10,093,071 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NEFL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1823,077,085 - 23,083,213 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl823,077,086 - 23,083,222 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605219,090,237 - 19,096,168 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nefl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475820,062,685 - 20,068,609 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475820,063,109 - 20,068,459 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
WI-13419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,808,486 - 24,808,621UniSTSGRCh37
Build 36824,864,403 - 24,864,538RGDNCBI36
Celera823,772,911 - 23,773,046RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,353,253 - 23,353,388UniSTS
GeneMap99-GB4 RH Map8104.2UniSTS
Whitehead-RH Map8104.5UniSTS
NCBI RH Map8283.7UniSTS
Nfl  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera823,774,509 - 23,774,700RGD
HuRef823,354,851 - 23,355,042UniSTS
GDB:181541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,813,267 - 24,813,751UniSTSGRCh37
Build 36824,869,184 - 24,869,668RGDNCBI36
Celera823,777,692 - 23,778,176RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,358,034 - 23,358,518UniSTS
RH71170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,809,952 - 24,810,137UniSTSGRCh37
Build 36824,865,869 - 24,866,054RGDNCBI36
Celera823,774,377 - 23,774,562RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,354,719 - 23,354,904UniSTS
GeneMap99-GB4 RH Map8103.98UniSTS
STS-R51365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,809,924 - 24,810,139UniSTSGRCh37
Build 36824,865,841 - 24,866,056RGDNCBI36
Celera823,774,349 - 23,774,564RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,354,691 - 23,354,906UniSTS
GeneMap99-GB4 RH Map8103.6UniSTS
RH120868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,808,962 - 24,809,107UniSTSGRCh37
Build 36824,864,879 - 24,865,024RGDNCBI36
Celera823,773,387 - 23,773,532RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,353,729 - 23,353,874UniSTS
TNG Radiation Hybrid Map813169.0UniSTS
WI-16152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,814,479 - 24,814,578UniSTSGRCh37
Build 36824,870,396 - 24,870,495RGDNCBI36
Celera823,778,904 - 23,779,003RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,359,246 - 23,359,345UniSTS
GeneMap99-GB4 RH Map8103.34UniSTS
Whitehead-RH Map8104.5UniSTS
SHGC-6135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,814,678 - 24,814,823UniSTSGRCh37
Build 36824,870,595 - 24,870,740RGDNCBI36
Celera823,779,103 - 23,779,242RGD
Cytogenetic Map8p21UniSTS
HuRef823,359,445 - 23,359,584UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map81309.0UniSTS
MARC_16719-16720:1018026557:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,813,034 - 24,813,494UniSTSGRCh37
Build 36824,868,951 - 24,869,411RGDNCBI36
Celera823,777,459 - 23,777,919RGD
HuRef823,357,801 - 23,358,261UniSTS
Nefl  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,810,119 - 24,811,093UniSTSGRCh37
Celera823,774,544 - 23,775,517UniSTS
HuRef823,354,886 - 23,355,859UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:189
Count of miRNA genes:184
Interacting mature miRNAs:188
Transcripts:ENST00000221169
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 19 1
Medium 250 5 151 2 23 2 237 52 2547 49 47 71 3 39
Low 1467 338 333 22 356 12 1393 668 1011 69 639 164 14 68 1157
Below cutoff 520 2418 858 311 905 176 2437 1270 69 59 496 1078 137 1011 1426 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY082067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY156690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ720008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA195749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA222123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S40729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S42443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000610854   ⟹   ENSP00000482169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,950,955 - 24,956,612 (-)Ensembl
RefSeq Acc Id: ENST00000615973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,955,225 - 24,956,721 (-)Ensembl
RefSeq Acc Id: ENST00000619417   ⟹   ENSP00000483690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,952,380 - 24,956,612 (-)Ensembl
RefSeq Acc Id: ENST00000639464   ⟹   ENSP00000491612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,950,958 - 24,956,515 (-)Ensembl
RefSeq Acc Id: NM_006158   ⟹   NP_006149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38824,950,955 - 24,956,612 (-)NCBI
GRCh37824,808,468 - 24,814,383 (-)NCBI
Build 36824,864,385 - 24,870,043 (-)NCBI Archive
HuRef823,353,235 - 23,359,150 (-)NCBI
CHM1_1825,010,797 - 25,016,712 (-)NCBI
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006149   ⟸   NM_006158
- UniProtKB: Q8IU72 (UniProtKB/Swiss-Prot),   P07196 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000482169   ⟸   ENST00000610854
RefSeq Acc Id: ENSP00000491612   ⟸   ENST00000639464
RefSeq Acc Id: ENSP00000483690   ⟸   ENST00000619417
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07196-F1-model_v2 AlphaFold P07196 1-543 view protein structure

Promoters
RGD ID:6806894
Promoter ID:HG_KWN:60947
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000221169,   NM_006158,   UC003XEE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36824,869,884 - 24,870,384 (-)MPROMDB
RGD ID:6849500
Promoter ID:EP26019
Type:single initiation site
Name:HS_NEFL
Description:Neurofilament light chain.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:neurons
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36824,870,047 - 24,870,107EPD
RGD ID:7212901
Promoter ID:EPDNEW_H12196
Type:initiation region
Name:NEFL_1
Description:neurofilament light
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
GRCh38824,956,612 - 24,956,672EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006158.5(NEFL):c.1026C>G (p.Ala342=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000549995]|not provided [RCV001696989] Chr8:24955490 [GRCh38]
Chr8:24813004 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173732]|Charcot-Marie-Tooth disease type 2E [RCV000554848] Chr8:24955934 [GRCh38]
Chr8:24813448 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) indel not specified [RCV000516180] Chr8:24953493..24953494 [GRCh38]
Chr8:24811006..24811007 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000034135] Chr8:24955515 [GRCh38]
Chr8:24813029 [GRCh37]
Chr8:8p21.2
pathogenic
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857201]|Charcot-Marie-Tooth disease type 1F [RCV000034136]|Charcot-Marie-Tooth disease type 1F [RCV001027680]|Charcot-Marie-Tooth disease type 2E [RCV000554079]|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585792]|Sensorineural hearing loss disorder [RCV001843465]|not provided [RCV000057136] Chr8:24956223 [GRCh38]
Chr8:24813737 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000034137]|Charcot-Marie-Tooth disease type 2E [RCV001364663]|not provided [RCV000057139] Chr8:24956070 [GRCh38]
Chr8:24813584 [GRCh37]
Chr8:8p21.2
pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000034138]|not provided [RCV000057143] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000034139]|not provided [RCV000057145] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000022674] Chr8:24955888 [GRCh38]
Chr8:24813402 [GRCh37]
Chr8:8p21.2
pathogenic
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000015072]|not provided [RCV000057151] Chr8:24955521 [GRCh38]
Chr8:24813035 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) single nucleotide variant Charcot-Marie-Tooth disease type 1C [RCV000194357]|Charcot-Marie-Tooth disease type 1F [RCV001196666]|Charcot-Marie-Tooth disease type 2E [RCV000015073]|Decreased nerve conduction velocity [RCV000414916]|Pes cavus [RCV000415401]|not provided [RCV000057144] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic|not provided
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) indel Charcot-Marie-Tooth disease type 1F [RCV000015075]|Charcot-Marie-Tooth disease type 2E [RCV000015074]|not provided [RCV000057129] Chr8:24956493..24956494 [GRCh38]
Chr8:24814007..24814008 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NEFL, 3-BP DEL, 1581GAG deletion Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015076]|Charcot-Marie-Tooth disease, type IF [RCV000015076] Chr8:8p21 pathogenic
NEFL, 13-BP DUP/INS, NT61 duplication Charcot-Marie-Tooth disease type 2E [RCV000015077] Chr8:8p21 pathogenic
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000015078]|not provided [RCV000057135] Chr8:24956235 [GRCh38]
Chr8:24813749 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000015079]|not provided [RCV000057137] Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.1287C>T (p.Thr429=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001476411]|not provided [RCV000640668] Chr8:24953678 [GRCh38]
Chr8:24811192 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_006158.5(NEFL):c.321C>G (p.Arg107=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173054]|Charcot-Marie-Tooth disease type 2E [RCV000640669] Chr8:24956195 [GRCh38]
Chr8:24813709 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.621C>G (p.Ala207=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640672] Chr8:24955895 [GRCh38]
Chr8:24813409 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000809657]|Hereditary motor neuron disease [RCV001027486]|not provided [RCV001584230]|not specified [RCV000516482] Chr8:24955723 [GRCh38]
Chr8:24813237 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000530689] Chr8:24955719 [GRCh38]
Chr8:24813233 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000546476]|not specified [RCV000518369] Chr8:24955800 [GRCh38]
Chr8:24813314 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV000701661]|not specified [RCV000518110] Chr8:24953636..24953638 [GRCh38]
Chr8:24811150..24811152 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 copy number gain See cases [RCV000052167] Chr8:23961808..25436108 [GRCh38]
Chr8:23819321..25293624 [GRCh37]
Chr8:23875266..25349541 [NCBI36]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3 copy number gain See cases [RCV000052168] Chr8:24463803..25049184 [GRCh38]
Chr8:24321316..24906699 [GRCh37]
Chr8:24377206..24962616 [NCBI36]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
NM_006158.4(NEFL):c.1534G>A (p.Gly512Ser) single nucleotide variant Malignant melanoma [RCV000068258] Chr8:24952908 [GRCh38]
Chr8:24810421 [GRCh37]
Chr8:24866338 [NCBI36]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.-44_-42delinsATG indel not provided [RCV000057110] Chr8:24956557..24956559 [GRCh38]
Chr8:24814071..24814073 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.-54TC[3] microsatellite not provided [RCV000057111] Chr8:24956562..24956563 [GRCh38]
Chr8:24814076..24814077 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1045-19dup duplication not provided [RCV000057112] Chr8:24954323..24954324 [GRCh38]
Chr8:24811837..24811838 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174356]|Charcot-Marie-Tooth disease type 2E [RCV000534161]|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585797]|not provided [RCV000057113] Chr8:24953779 [GRCh38]
Chr8:24811293 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys) single nucleotide variant not provided [RCV000057114] Chr8:24953776 [GRCh38]
Chr8:24811290 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173047]|Charcot-Marie-Tooth disease type 1F [RCV000261709]|Charcot-Marie-Tooth disease type 2E [RCV001080353]|not provided [RCV000057115]|not specified [RCV000420597] Chr8:24953753 [GRCh38]
Chr8:24811267 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.123C>T (p.Ser41=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002054900]|not provided [RCV000057116] Chr8:24956393 [GRCh38]
Chr8:24813907 [GRCh37]
Chr8:8p21.2
likely benign|not provided
NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter) single nucleotide variant not provided [RCV000057117] Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173044]|Charcot-Marie-Tooth disease type 1F [RCV000311183]|Charcot-Marie-Tooth disease type 2E [RCV001082150]|not provided [RCV000057118]|not specified [RCV000444012] Chr8:24953563 [GRCh38]
Chr8:24811077 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.5(NEFL):c.1458C>T (p.Ala486=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001080656]|not provided [RCV000057119]|not specified [RCV000789604] Chr8:24953507 [GRCh38]
Chr8:24811020 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001854170]|not provided [RCV000057120]|not specified [RCV000789605] Chr8:24952950 [GRCh38]
Chr8:24810463 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.1560C>A (p.Thr520=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001087291]|not provided [RCV000057121] Chr8:24952882 [GRCh38]
Chr8:24810395 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) microsatellite Charcot-Marie-Tooth disease type 1F [RCV000015076]|Charcot-Marie-Tooth disease type 2E [RCV001080241]|not provided [RCV000057123]|not specified [RCV000481083] Chr8:24952861..24952863 [GRCh38]
Chr8:24810374..24810376 [GRCh37]
Chr8:8p21.2
pathogenic|benign|not provided
NM_006158.5(NEFL):c.1590T>G (p.Val530=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002054901]|not provided [RCV000057124]|not specified [RCV000441793] Chr8:24952852 [GRCh38]
Chr8:24810365 [GRCh37]
Chr8:8p21.2
likely benign|not provided
NM_006158.5(NEFL):c.189G>A (p.Ser63=) single nucleotide variant not provided [RCV000057125] Chr8:24956327 [GRCh38]
Chr8:24813841 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789662]|not provided [RCV000057126] Chr8:24956497 [GRCh38]
Chr8:24814011 [GRCh37]
Chr8:8p21.2
uncertain significance|not provided
NM_006158.5(NEFL):c.227T>A (p.Val76Glu) single nucleotide variant not provided [RCV000057127] Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173052]|Charcot-Marie-Tooth disease type 1F [RCV000267478]|Charcot-Marie-Tooth disease type 2E [RCV001087779]|not provided [RCV000057128]|not specified [RCV000790247] Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174358]|not provided [RCV000057130] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789663]|Charcot-Marie-Tooth disease type 2E [RCV000234847]|not provided [RCV000057131] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2
pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001235472]|not provided [RCV000057132] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001854171]|not provided [RCV000057133] Chr8:24956248 [GRCh38]
Chr8:24813762 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.279G>A (p.Gln93=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002054902]|not provided [RCV000057134]|not specified [RCV000789602] Chr8:24956237 [GRCh38]
Chr8:24813751 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.423G>A (p.Gln141=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173048]|Charcot-Marie-Tooth disease type 2E [RCV001079790]|not provided [RCV000057138]|not specified [RCV000609209] Chr8:24956093 [GRCh38]
Chr8:24813607 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.5(NEFL):c.45G>A (p.Lys15=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001162498]|not provided [RCV000057140] Chr8:24956471 [GRCh38]
Chr8:24813985 [GRCh37]
Chr8:8p21.2
uncertain significance|not provided
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) duplication Charcot-Marie-Tooth disease [RCV000790245]|Charcot-Marie-Tooth disease type 2E [RCV000015077]|not provided [RCV000057141] Chr8:24956455..24956456 [GRCh38]
Chr8:24813969..24813970 [GRCh37]
Chr8:8p21.2
pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173051]|Charcot-Marie-Tooth disease type 1F [RCV001160882]|Charcot-Marie-Tooth disease type 2E [RCV001081393]|not provided [RCV000057142]|not specified [RCV000507003] Chr8:24955877 [GRCh38]
Chr8:24813391 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006158.5(NEFL):c.667C>T (p.Leu223=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173735]|Charcot-Marie-Tooth disease type 2E [RCV001082849]|Charcot-Marie-Tooth disease, type I [RCV000352974]|not provided [RCV000057146]|not specified [RCV000375590] Chr8:24955849 [GRCh38]
Chr8:24813363 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) single nucleotide variant not provided [RCV000057147]|not specified [RCV000789603] Chr8:24955796 [GRCh38]
Chr8:24813310 [GRCh37]
Chr8:8p21.2
benign|not provided
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) single nucleotide variant Peripheral neuropathy [RCV001836726]|not provided [RCV000057148] Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del) deletion not provided [RCV000057149] Chr8:24955539..24955553 [GRCh38]
Chr8:24813053..24813067 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.969G>T (p.Arg323=) single nucleotide variant not provided [RCV000057150] Chr8:24955547 [GRCh38]
Chr8:24813061 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) single nucleotide variant not provided [RCV000057152] Chr8:24955518 [GRCh38]
Chr8:24813032 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1576dup (p.Glu526fs) duplication not provided [RCV000057122] Chr8:24952865..24952866 [GRCh38]
Chr8:24810378..24810379 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001367925] Chr8:24953574 [GRCh38]
Chr8:24811088 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1170-13T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173734]|Charcot-Marie-Tooth disease type 2E [RCV002055713]|Charcot-Marie-Tooth disease, type I [RCV000316969]|not specified [RCV000127189] Chr8:24953808 [GRCh38]
Chr8:24811322 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001253085] Chr8:24956218 [GRCh38]
Chr8:24813732 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173041]|not provided [RCV000143807] Chr8:24955509 [GRCh38]
Chr8:24813023 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789071]|Charcot-Marie-Tooth disease type 2E [RCV001044771]|not provided [RCV000143808] Chr8:24953646 [GRCh38]
Chr8:24811160 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000205727]|not provided [RCV000143809] Chr8:24956227 [GRCh38]
Chr8:24813741 [GRCh37]
Chr8:8p21.2
benign|uncertain significance
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857200]|not provided [RCV000143810] Chr8:24955722 [GRCh38]
Chr8:24813236 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.803T>G (p.Leu268Arg) single nucleotide variant not provided [RCV000143811] Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2
likely pathogenic
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174357]|Charcot-Marie-Tooth disease type 2E [RCV000172912] Chr8:24953704 [GRCh38]
Chr8:24811218 [GRCh37]
Chr8:8p21.2
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2
uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
Single allele duplication Gestational diabetes mellitus uncontrolled [RCV000161539] Chr8:24604793..25028671 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173736]|Charcot-Marie-Tooth disease type 1F [RCV000407613]|Charcot-Marie-Tooth disease type 2E [RCV000196314]|not specified [RCV000437037] Chr8:24953558 [GRCh38]
Chr8:24811072 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.65C>A (p.Pro22His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000205038] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000764772]|Charcot-Marie-Tooth disease type 2E [RCV001081473]|not provided [RCV000235949]|not specified [RCV001657993] Chr8:24952832 [GRCh38]
Chr8:24810345 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000206730]|not specified [RCV000518282] Chr8:24955548 [GRCh38]
Chr8:24813062 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
NM_006158.5(NEFL):c.1407_1408delinsA (p.Ser472fs) indel not provided [RCV000756414] Chr8:24953557..24953558 [GRCh38]
Chr8:24811071..24811072 [GRCh37]
Chr8:8p21.2
benign
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) single nucleotide variant not provided [RCV001507726] Chr8:24956334 [GRCh38]
Chr8:24813848 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000764773]|Charcot-Marie-Tooth disease type 2E [RCV000535984]|not provided [RCV000762503] Chr8:24955530 [GRCh38]
Chr8:24813044 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001309852]|not provided [RCV000218430] Chr8:24952854 [GRCh38]
Chr8:24810367 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.487G>C (p.Glu163Gln) single nucleotide variant not provided [RCV000218821] Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001854762]|not provided [RCV000216546] Chr8:24953592 [GRCh38]
Chr8:24811106 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.231C>G (p.Ala77=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002104946] Chr8:24956285 [GRCh38]
Chr8:24813799 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.780C>T (p.Asp260=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000226239] Chr8:24955736 [GRCh38]
Chr8:24813250 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857196]|Charcot-Marie-Tooth disease type 2E [RCV000640659]|not provided [RCV001711645] Chr8:24953786 [GRCh38]
Chr8:24811300 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001857912]|not specified [RCV000517287] Chr8:24955944 [GRCh38]
Chr8:24813458 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*883G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000269943] Chr8:24951927 [GRCh38]
Chr8:24809440 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*486T>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000286843] Chr8:24952324 [GRCh38]
Chr8:24809837 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*426G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000373061] Chr8:24952384 [GRCh38]
Chr8:24809897 [GRCh37]
Chr8:8p21.2
benign
NM_006158.5(NEFL):c.*244A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000400041] Chr8:24952566 [GRCh38]
Chr8:24810079 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*878A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000327322] Chr8:24951932 [GRCh38]
Chr8:24809445 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*82T>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000307000] Chr8:24952728 [GRCh38]
Chr8:24810241 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*1643G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000376650] Chr8:24951167 [GRCh38]
Chr8:24808680 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*1806T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000290458] Chr8:24951004 [GRCh38]
Chr8:24808517 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*1256G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000311138] Chr8:24951554 [GRCh38]
Chr8:24809067 [GRCh37]
Chr8:8p21.2
benign
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000356601]|Charcot-Marie-Tooth disease type 2E [RCV000640667] Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*235A>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000294023]|not provided [RCV001718784] Chr8:24952575 [GRCh38]
Chr8:24810088 [GRCh37]
Chr8:8p21.2
benign
NM_006158.5(NEFL):c.*1107C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000314514] Chr8:24951703 [GRCh38]
Chr8:24809216 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*378A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000338445] Chr8:24952432 [GRCh38]
Chr8:24809945 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*1100C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000362239] Chr8:24951710 [GRCh38]
Chr8:24809223 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*687G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000264408] Chr8:24952123 [GRCh38]
Chr8:24809636 [GRCh37]
Chr8:8p21.2
benign
NM_006158.5(NEFL):c.*407_*408del deletion Charcot-Marie-Tooth disease, type I [RCV000280884] Chr8:24952402..24952403 [GRCh38]
Chr8:24809915..24809916 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*1344G>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000297649] Chr8:24951466 [GRCh38]
Chr8:24808979 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*485A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000316144] Chr8:24952325 [GRCh38]
Chr8:24809838 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*51A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000364047] Chr8:24952759 [GRCh38]
Chr8:24810272 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*101A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000389986]|not provided [RCV001576225] Chr8:24952709 [GRCh38]
Chr8:24810222 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*1198G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000368106] Chr8:24951612 [GRCh38]
Chr8:24809125 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.*1155T>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000392666] Chr8:24951655 [GRCh38]
Chr8:24809168 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789666]|Charcot-Marie-Tooth disease type 2E [RCV001067080]|not provided [RCV000319997] Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.487G>T (p.Glu163Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000408890] Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2
pathogenic
NM_006158.5(NEFL):c.*6del deletion not provided [RCV000487701] Chr8:24952804 [GRCh38]
Chr8:24810317 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.856G>T (p.Val286Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001367648] Chr8:24955660 [GRCh38]
Chr8:24813174 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1261C>A (p.Arg421=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000526896] Chr8:24953704 [GRCh38]
Chr8:24811218 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1044+20A>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002064374]|not specified [RCV000603215] Chr8:24955452 [GRCh38]
Chr8:24812966 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.*1342A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000399540] Chr8:24951468 [GRCh38]
Chr8:24808981 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*1744T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000347797] Chr8:24951066 [GRCh38]
Chr8:24808579 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*1349T>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000402325] Chr8:24951461 [GRCh38]
Chr8:24808974 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*856T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000366069] Chr8:24951954 [GRCh38]
Chr8:24809467 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*1609_*1612del deletion Charcot-Marie-Tooth disease, type I [RCV000284586] Chr8:24951198..24951201 [GRCh38]
Chr8:24808711..24808714 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*1340_*1342del deletion Charcot-Marie-Tooth disease, type I [RCV000336287] Chr8:24951468..24951470 [GRCh38]
Chr8:24808981..24808983 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*171C>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000351230] Chr8:24952639 [GRCh38]
Chr8:24810152 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*577T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000321938] Chr8:24952233 [GRCh38]
Chr8:24809746 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.141G>A (p.Val47=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000322687] Chr8:24956375 [GRCh38]
Chr8:24813889 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*1482C>T single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000342033] Chr8:24951328 [GRCh38]
Chr8:24808841 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.-68T>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000377265] Chr8:24956583 [GRCh38]
Chr8:24814097 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*565del deletion Charcot-Marie-Tooth disease, type I [RCV000378901] Chr8:24952245 [GRCh38]
Chr8:24809758 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.593G>C (p.Gly198Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640660] Chr8:24955923 [GRCh38]
Chr8:24813437 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640663] Chr8:24954233 [GRCh38]
Chr8:24811747 [GRCh37]
Chr8:8p21.2
pathogenic
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640666] Chr8:24956246 [GRCh38]
Chr8:24813760 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_006158.5(NEFL):c.520C>T (p.Leu174=) single nucleotide variant not provided [RCV000584847] Chr8:24955996 [GRCh38]
Chr8:24813510 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) indel Charcot-Marie-Tooth disease [RCV001172740]|Charcot-Marie-Tooth disease type 2E [RCV001081472]|Inborn genetic diseases [RCV000624055]|not provided [RCV000712412] Chr8:24956177..24956178 [GRCh38]
Chr8:24813691..24813692 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006158.5(NEFL):c.1185C>T (p.Gly395=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640664] Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2
uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_006158.5(NEFL):c.1045-2A>G single nucleotide variant not provided [RCV000524009] Chr8:24954307 [GRCh38]
Chr8:24811821 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001071579]|not provided [RCV000413716] Chr8:24956222 [GRCh38]
Chr8:24813736 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000559005]|not provided [RCV001755833] Chr8:24955720 [GRCh38]
Chr8:24813234 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640670]|not provided [RCV001534593]|not specified [RCV000423639] Chr8:24953690 [GRCh38]
Chr8:24811204 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.855C>T (p.Thr285=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173053]|Charcot-Marie-Tooth disease type 2E [RCV000543296]|not provided [RCV001311326]|not specified [RCV000420823] Chr8:24955661 [GRCh38]
Chr8:24813175 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006158.5(NEFL):c.-37A>C single nucleotide variant not specified [RCV000429034] Chr8:24956552 [GRCh38]
Chr8:24814066 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000531003]|not provided [RCV001712264]|not specified [RCV000425861] Chr8:24955932 [GRCh38]
Chr8:24813446 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006158.5(NEFL):c.1461G>A (p.Glu487=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000866122]|not specified [RCV000436338] Chr8:24953504 [GRCh38]
Chr8:24811017 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1011G>A (p.Glu337=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000868473]|not specified [RCV000433878] Chr8:24955505 [GRCh38]
Chr8:24813019 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000458831] Chr8:24955634 [GRCh38]
Chr8:24813148 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) indel Charcot-Marie-Tooth disease type 2E [RCV000474144] Chr8:24956435..24956438 [GRCh38]
Chr8:24813949..24813952 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000470770] Chr8:24954281 [GRCh38]
Chr8:24811795 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173730]|Charcot-Marie-Tooth disease type 2E [RCV000456780] Chr8:24955510 [GRCh38]
Chr8:24813024 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.821A>G (p.Gln274Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000460408] Chr8:24955695 [GRCh38]
Chr8:24813209 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.984G>T (p.Ala328=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000457056] Chr8:24955532 [GRCh38]
Chr8:24813046 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000465280] Chr8:24955828 [GRCh38]
Chr8:24813342 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.207G>A (p.Glu69=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000466117] Chr8:24956309 [GRCh38]
Chr8:24813823 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000473439] Chr8:24952929 [GRCh38]
Chr8:24810442 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000466337]|not provided [RCV000999003] Chr8:24955937 [GRCh38]
Chr8:24813451 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
NM_006158.5(NEFL):c.1392G>A (p.Glu464=) single nucleotide variant not specified [RCV000505893] Chr8:24953573 [GRCh38]
Chr8:24811087 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006158.5(NEFL):c.1080C>T (p.Thr360=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000868942]|not specified [RCV000600143] Chr8:24954270 [GRCh38]
Chr8:24811784 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000559816] Chr8:24955533 [GRCh38]
Chr8:24813047 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000541480] Chr8:24956273 [GRCh38]
Chr8:24813787 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640657] Chr8:24955755 [GRCh38]
Chr8:24813269 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857188]|Charcot-Marie-Tooth disease type 2E [RCV000640661] Chr8:24953503 [GRCh38]
Chr8:24811016 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.352C>T (p.Leu118=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640673] Chr8:24956164 [GRCh38]
Chr8:24813678 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1284G>A (p.Gln428=) single nucleotide variant not specified [RCV000609903] Chr8:24953681 [GRCh38]
Chr8:24811195 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640662] Chr8:24953625 [GRCh38]
Chr8:24811139 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1482G>A (p.Glu494=) single nucleotide variant not specified [RCV000608427] Chr8:24953483 [GRCh38]
Chr8:24810996 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.146C>T (p.Ser49Phe) single nucleotide variant not provided [RCV000512683] Chr8:24956370 [GRCh38]
Chr8:24813884 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1175T>A (p.Leu392His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640658]|not provided [RCV001090303] Chr8:24953790 [GRCh38]
Chr8:24811304 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640665]|not provided [RCV001756066] Chr8:24956299 [GRCh38]
Chr8:24813813 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000547572]|not provided [RCV000513137] Chr8:24953536 [GRCh38]
Chr8:24811049 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV002250649]|not provided [RCV000513356] Chr8:24953770 [GRCh38]
Chr8:24811284 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic
NM_006158.5(NEFL):c.353T>G (p.Leu118Arg) single nucleotide variant not provided [RCV000659102] Chr8:24956163 [GRCh38]
Chr8:24813677 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000699633] Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p21.2(chr8:24314161-24933369)x3 copy number gain not provided [RCV000682989] Chr8:24314161..24933369 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
NM_006158.5(NEFL):c.608C>T (p.Ala203Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000686994] Chr8:24955908 [GRCh38]
Chr8:24813422 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1154A>T (p.Glu385Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688530] Chr8:24954196 [GRCh38]
Chr8:24811710 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688624] Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000690223] Chr8:24956449 [GRCh38]
Chr8:24813963 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688199] Chr8:24955986 [GRCh38]
Chr8:24813500 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) single nucleotide variant not provided [RCV000712411] Chr8:24956314 [GRCh38]
Chr8:24813828 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.58G>A (p.Glu20Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000703212] Chr8:24956458 [GRCh38]
Chr8:24813972 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000703803] Chr8:24955848 [GRCh38]
Chr8:24813362 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000692547] Chr8:24953632 [GRCh38]
Chr8:24811146 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1044+5G>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000697991] Chr8:24955467 [GRCh38]
Chr8:24812981 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu) single nucleotide variant Charc