NEFL neurofilament light chain

Information
Symbol
NEFL
Type
protein-coding
Description
neurofilament light chain
Entrez Gene ID
4747
Genome
hg19
Position
chr8:24,808,468-24,814,126
Genome
hg38
Position
chr8:24,950,955-24,956,612
MIM
162280 OMIM
HGNC
HGNC:7739 HGNC
Ensembl
ENSG00000277586 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 68
Likely pathogenic 0 36
Benign 16 62
Likely benign 0 284
Conflicting classifications of pathogenicity 0 58
not provided 0 24
Uncertain significance 0 688
Ranking
ClinVar
0
0
236
826
36
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CMT1F
SYNONYM CMT2E
SYNONYM CMTDIG
SYNONYM NF-L
SYNONYM NF68
SYNONYM NFL
SYNONYM PPP1R110
MIM 162280 OMIM
HGNC HGNC:7739 HGNC
Ensembl ENSG00000277586 Ensembl
AllianceGenome HGNC:7739
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000610854.2 hg38 chr8 24,950,955 24,956,612 5,658
ENST00000610854.2 hg19 chr8 24,808,468 24,814,126 5,659
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