NEFM neurofilament medium chain

Information
Symbol
NEFM
Type
protein-coding
Description
neurofilament medium chain
Entrez Gene ID
4741
Genome
hg19
Position
chr8:24,771,274-24,776,606
Genome
hg38
Position
chr8:24,913,761-24,919,093
MIM
162250 OMIM
HGNC
HGNC:7734 HGNC
Ensembl
ENSG00000104722 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
not provided 0 28
Uncertain significance 0 80
Ranking
ClinVar
0
0
0
88
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 NEF3
SYNONYM NF-M
SYNONYM NFM
MIM 162250 OMIM
HGNC HGNC:7734 HGNC
Ensembl ENSG00000104722 Ensembl
AllianceGenome HGNC:7734
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000433454.3 hg38 chr8 24,914,942 24,919,098 4,157
ENST00000221166.10 hg38 chr8 24,913,761 24,919,093 5,333
ENST00000437366.2 hg38 chr8 24,913,764 24,919,090 5,327
ENST00000518131.5 hg38 chr8 24,913,761 24,918,976 5,216
ENST00000518131.5 hg19 chr8 24,771,274 24,776,489 5,216
ENST00000221166.10 hg19 chr8 24,771,274 24,776,606 5,333
ENST00000437366.2 hg19 chr8 24,771,277 24,776,603 5,327
ENST00000433454.3 hg19 chr8 24,772,455 24,776,611 4,157
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