NFU1 NFU1 iron-sulfur cluster scaffold

Information
Symbol
NFU1
Type
protein-coding
Description
NFU1 iron-sulfur cluster scaffold
Entrez Gene ID
27247
Genome
hg19
Position
chr2:69,623,258-69,664,567
Genome
hg38
Position
chr2:69,396,126-69,437,435
MIM
608100 OMIM
HGNC
HGNC:16287 HGNC
Ensembl
ENSG00000169599 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 8
Benign 0 52
Likely benign 0 114
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 118
Ranking
ClinVar
0
0
50
244
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 :
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 CGI-33
SYNONYM HIRIP
SYNONYM HIRIP5
SYNONYM MMDFS
SYNONYM MMDS1
SYNONYM NIFUC
SYNONYM Nfu
SYNONYM NifU
MIM 608100 OMIM
HGNC HGNC:16287 HGNC
Ensembl ENSG00000169599 Ensembl
AllianceGenome HGNC:16287
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000410022.7 hg38 chr2 69,396,126 69,437,435 41,310
ENST00000394305.5 hg38 chr2 69,396,113 69,437,628 41,516
ENST00000303698.7 hg38 chr2 69,396,120 69,437,475 41,356
ENST00000462320.5 hg38 chr2 69,396,123 69,416,204 20,082
ENST00000394305.5 hg19 chr2 69,623,245 69,664,760 41,516
ENST00000303698.7 hg19 chr2 69,623,252 69,664,607 41,356
ENST00000462320.5 hg19 chr2 69,623,255 69,643,336 20,082
ENST00000410022.7 hg19 chr2 69,623,258 69,664,567 41,310
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