AIRIM AFG2 interacting ribosome maturation factor

Information
Symbol
AIRIM
Type
protein-coding
Description
AFG2 interacting ribosome maturation factor
Entrez Gene ID
54955
Genome
hg19
Position
chr1:38,147,242-38,156,201
Genome
hg38
Position
chr1:37,681,570-37,690,529
MIM
614799 OMIM
HGNC
HGNC:26039 HGNC
Ensembl
ENSG00000116922 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
2
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 C1orf109
MIM 614799 OMIM
HGNC HGNC:26039 HGNC
Ensembl ENSG00000116922 Ensembl
AllianceGenome HGNC:26039
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000486637.2 hg38 chr1 37,681,570 37,690,529 8,960
ENST00000464085.5 hg38 chr1 37,683,111 37,690,504 7,394
ENST00000358011.8 hg38 chr1 37,681,570 37,690,520 8,951
ENST00000358011.8 hg19 chr1 38,147,242 38,156,192 8,951
ENST00000486637.2 hg19 chr1 38,147,242 38,156,201 8,960
ENST00000464085.5 hg19 chr1 38,148,783 38,156,176 7,394
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