IFI30 IFI30 lysosomal thiol reductase

Information
Symbol
IFI30
Type
protein-coding
Description
IFI30 lysosomal thiol reductase
Entrez Gene ID
10437
Genome
hg19
Position
chr19:18,284,623-18,288,927
Genome
hg38
Position
chr19:18,173,813-18,178,117
MIM
604664 OMIM
HGNC
HGNC:5398 HGNC
Ensembl
ENSG00000216490 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
28
2
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 GILT
SYNONYM IFI-30
SYNONYM IP-30
SYNONYM IP30
MIM 604664 OMIM
HGNC HGNC:5398 HGNC
Ensembl ENSG00000216490 Ensembl
AllianceGenome HGNC:5398
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000407280.4 hg38 chr19 18,173,813 18,178,117 4,305
ENST00000407280.4 hg19 chr19 18,284,623 18,288,927 4,305
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