AIFM1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol AIFM1
Gene name apoptosis-inducing factor, mitochondrion-associated, 1
Chromosome X
Chromosomal band q26.1
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_001130846.2, NM_001130847.3, NM_004208.3, NM_145812.2, NM_145813.2
Associated with diseases COXPD6
Citation reference(s) -
Curators (0) -
Total number of public variants reported 37
Unique public DNA variants reported 37
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 8768
Entrez Gene 9131
PubMed articles AIFM1
OMIM - Gene 300169
OMIM - Diseases COXPD6 (COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6)
HGMD AIFM1
GeneCards AIFM1
GeneTests AIFM1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000025 X transcript variant 2 NM_145812.2 NP_665811.1 37
00000026 X transcript variant 1 NM_004208.3 NP_004199.1 37
00000027 X transcript variant 5 NM_001130847.3 NP_001124319.1 37
00000024 X transcript variant 3 NM_145813.2 NP_665812.1 36
00000028 X transcript variant 4 NM_001130846.2 NP_001124318.1 20


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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