IBA57 iron-sulfur cluster assembly factor IBA57

Information
Symbol
IBA57
Type
protein-coding
Description
iron-sulfur cluster assembly factor IBA57
Entrez Gene ID
200205
Genome
hg19
Position
chr1:228,353,505-228,369,958
Genome
hg38
Position
chr1:228,165,804-228,182,257
MIM
615316 OMIM
HGNC
HGNC:27302 HGNC
Ensembl
ENSG00000181873 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 48
Likely pathogenic 0 24
Benign 0 28
Likely benign 0 172
Conflicting classifications of pathogenicity 0 14
no classification for the single variant 0 4
Uncertain significance 0 224
Ranking
ClinVar
0
0
102
354
20
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 C1orf69
SYNONYM MMDS3
SYNONYM SPG74
MIM 615316 OMIM
HGNC HGNC:27302 HGNC
Ensembl ENSG00000181873 Ensembl
AllianceGenome HGNC:27302
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366711.4 hg38 chr1 228,165,804 228,182,257 16,454
ENST00000366711.4 hg19 chr1 228,353,505 228,369,958 16,454
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