AIFM1 gene homepage

General information
Gene symbol AIFM1
Gene name apoptosis-inducing factor, mitochondrion-associated, 1
Chromosome X
Chromosomal band q26.1
Imprinted Unknown
Genomic reference NG_013217.1
Transcript reference NM_004208.3
Exon/intron information NM_004208.3 exon/intron table
Associated with diseases COWCK, COXPD-6, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 29
Unique public DNA variants reported 27
Individuals with public variants 173
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated August 07, 2017
Version AIFM1:170807

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004208.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/AIFM1
External URL Orphanet
HGNC 8768
Entrez Gene 9131
PubMed articles AIFM1
OMIM - Gene 300169
OMIM - Diseases COWCK (Cowchock syndrome (COWCK))
COXPD-6 (oxidative phosphorylation deficiency, combined, type 6 (COXPD-6))
HGMD AIFM1
GeneCards AIFM1
GeneTests AIFM1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024036 X transcript variant 1 NM_004208.3 NP_004199.1 29


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