AIFM1 apoptosis inducing factor mitochondria associated 1

Information
Symbol
AIFM1
Type
protein-coding
Description
apoptosis inducing factor mitochondria associated 1
Entrez Gene ID
9131
Genome
hg19
Position
chrX:129,263,337-129,299,815
Genome
hg38
Position
chrX:130,129,362-130,165,841
MIM
300169 OMIM
HGNC
HGNC:8768 HGNC
Ensembl
ENSG00000156709 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 28
Likely pathogenic 0 60
Benign 0 84
Likely benign 0 392
Conflicting classifications of pathogenicity 0 58
not provided 6 0
Uncertain significance 0 368
Ranking
ClinVar
0
0
152
682
60
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 AIF
SYNONYM AUNX1
SYNONYM CMT2D
SYNONYM CMTX4
SYNONYM COWCK
SYNONYM COXPD6
SYNONYM DFNX5
SYNONYM NADMR
SYNONYM NAMSD
SYNONYM PDCD8
SYNONYM SEMDHL
MIM 300169 OMIM
HGNC HGNC:8768 HGNC
Ensembl ENSG00000156709 Ensembl
AllianceGenome HGNC:8768
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535724.6 hg38 chrX 130,129,362 130,165,664 36,303
ENST00000675427.1 hg38 chrX 130,129,362 130,165,745 36,384
ENST00000460436.6 hg38 chrX 130,129,362 130,138,040 8,679
ENST00000319908.8 hg38 chrX 130,129,375 130,165,830 36,456
ENST00000676436.1 hg38 chrX 130,129,373 130,165,690 36,318
ENST00000675240.1 hg38 chrX 130,129,397 130,165,825 36,429
ENST00000676229.1 hg38 chrX 130,127,453 130,165,879 38,427
ENST00000674546.1 hg38 chrX 130,129,359 130,165,841 36,483
ENST00000675857.1 hg38 chrX 130,129,362 130,165,738 36,377
ENST00000287295.8 hg38 chrX 130,129,362 130,165,841 36,480
ENST00000675092.1 hg38 chrX 130,129,362 130,165,746 36,385
ENST00000676328.1 hg38 chrX 130,129,366 130,165,712 36,347
ENST00000346424.6 hg38 chrX 130,129,362 130,165,680 36,319
ENST00000676229.1 hg19 chrX 129,261,428 129,299,853 38,426
ENST00000287295.8 hg19 chrX 129,263,337 129,299,815 36,479
ENST00000319908.8 hg19 chrX 129,263,350 129,299,804 36,455
ENST00000346424.6 hg19 chrX 129,263,337 129,299,654 36,318
ENST00000460436.6 hg19 chrX 129,263,337 129,272,015 8,679
ENST00000535724.6 hg19 chrX 129,263,337 129,299,638 36,302
ENST00000674546.1 hg19 chrX 129,263,334 129,299,815 36,482
ENST00000675092.1 hg19 chrX 129,263,337 129,299,720 36,384
ENST00000675240.1 hg19 chrX 129,263,372 129,299,799 36,428
ENST00000675427.1 hg19 chrX 129,263,337 129,299,719 36,383
ENST00000675857.1 hg19 chrX 129,263,337 129,299,712 36,376
ENST00000676328.1 hg19 chrX 129,263,341 129,299,686 36,346
ENST00000676436.1 hg19 chrX 129,263,348 129,299,664 36,317
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