AIFM1
apoptosis inducing factor mitochondria associated 1
Summary
This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]
Known Variants450 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs189635584 | X:129,263,372 | T/C | — | likely benign |
| rs1057515766 | X:129,263,483 | G/A | — | uncertain significance |
| rs753119555 | X:129,263,512 | G/T | — | likely benign |
| rs73556209 | X:129,263,541 | A/G | — | likely benign |
| rs757379335 | X:129,263,553 | T/C | — | likely benign |
| rs863223899 | X:129,263,554 | A/T | missense variant | uncertain significance |
| rs147206884 | X:129,263,569 | T/C | — | uncertain significance |
| rs768648610 | X:129,263,580 | A/G | — | likely benign |
| rs2124643483 | X:129,263,591 | C/T | — | uncertain significance |
| rs148690239 | X:129,263,592 | G/A | — | likely benign |
| rs2029975071 | X:129,263,593 | T/G | — | uncertain significance |
| rs200543681 | X:129,263,595 | C/T | — | likely benign |
| rs2523097758 | X:129,263,601 | G/C | — | likely pathogenic |
| rs2523097804 | X:129,263,611 | A/G | — | likely benign |
| rs771572453 | X:129,263,612 | G/A | — | likely benign |
| rs2029975937 | X:129,263,614 | G/A | — | likely benign |
| rs2029976144 | X:129,263,615 | A/G | — | likely benign |
| rs183409616 | X:129,263,616 | G/A | — | likely benign |
| rs2523097888 | X:129,263,617 | A/T | — | likely benign |
| rs112112387 | X:129,263,799 | C/T | — | likely benign |
| rs781186692 | X:129,263,933 | A/G | — | conflicting classifications of pathogenicity |
| rs2523099262 | X:129,263,934 | C/T | — | likely benign |
| rs750502653 | X:129,263,938 | C/A | — | likely benign |
| rs754828679 | X:129,263,940 | C/A | — | uncertain significance |
| rs1279233558 | X:129,263,957 | T/G | — | likely benign |
| rs778929595 | X:129,263,961 | A/G | — | uncertain significance |
| rs747871895 | X:129,263,964 | C/T | — | uncertain significance |
| rs1455517770 | X:129,263,975 | G/A | — | likely benign |
| rs2029994748 | X:129,263,981 | T/C | — | likely benign |
| rs2124644030 | X:129,263,986 | C/T | — | uncertain significance |
| rs1603218806 | X:129,263,990 | C/T | — | likely benign |
| rs771940618 | X:129,263,996 | G/C | — | likely benign |
| rs777563453 | X:129,264,002 | T/C | — | likely benign |
| rs1603218828 | X:129,264,005 | G/T | — | uncertain significance |
| rs2239772 | X:129,264,008 | C/T | — | likely benign |
| rs2523099491 | X:129,264,010 | T/C | — | likely pathogenic |
| rs2124644072 | X:129,264,012 | A/C | — | uncertain significance |
| rs2523099540 | X:129,264,019 | A/T | — | uncertain significance |
| rs2523099549 | X:129,264,020 | G/A | — | likely benign |
| rs1375125488 | X:129,264,022 | T/C | — | uncertain significance |
| rs2523099561 | X:129,264,027 | C/G | — | uncertain significance |
| rs941734227 | X:129,264,034 | C/T | — | likely benign |
| rs776215622 | X:129,264,035 | G/A | — | likely benign |
| rs2523099597 | X:129,264,036 | T/C | — | uncertain significance |
| rs724160024 | X:129,264,037 | A/G | missense variant | pathogenic |
| rs1394889162 | X:129,264,039 | T/C | — | uncertain significance |
| rs1391324425 | X:129,264,041 | C/G | — | uncertain significance |
| rs1308417889 | X:129,264,046 | C/A | — | uncertain significance |
| rs201753098 | X:129,264,052 | C/T | — | conflicting classifications of pathogenicity |
| rs2029999691 | X:129,264,053 | G/A | — | likely benign |
| rs2029999918 | X:129,264,055 | G/A | — | uncertain significance |
| rs2124644144 | X:129,264,057 | G/A | — | likely pathogenic |
| rs764513196 | X:129,264,065 | A/T | — | likely benign |
| rs1057515767 | X:129,264,068 | T/C | — | conflicting classifications of pathogenicity |
| rs761953453 | X:129,264,069 | G/A | missense variant | pathogenic |
| rs150821143 | X:129,264,071 | C/T | — | likely benign |
| rs750418813 | X:129,264,072 | G/A | — | conflicting classifications of pathogenicity |
| rs863223897 | X:129,264,073 | G/A | — | conflicting classifications of pathogenicity |
| rs1569415378 | X:129,264,079 | T/C | — | uncertain significance |
| rs139322490 | X:129,264,082 | G/A | — | benign |
| rs1569415383 | X:129,264,084 | G/A | — | uncertain significance |
| rs752745547 | X:129,264,085 | G/A | — | likely benign |
| rs1175521163 | X:129,264,088 | T/C | — | uncertain significance |
| rs761765345 | X:129,264,106 | C/T | — | likely benign |
| rs193002766 | X:129,264,107 | G/A | — | likely benign |
| rs2030004639 | X:129,264,113 | T/C | — | likely benign |
| rs1057517852 | X:129,264,118 | C/T | — | uncertain significance |
| rs2030005109 | X:129,264,119 | A/T | — | uncertain significance |
| rs1603218953 | X:129,264,121 | T/C | — | uncertain significance |
| rs375825554 | X:129,264,122 | C/T | — | likely benign |
| rs1285480966 | X:129,264,123 | T/A | — | uncertain significance |
| rs2030005988 | X:129,264,126 | G/A | — | uncertain significance |
| rs1227079178 | X:129,264,129 | C/T | — | uncertain significance |
| rs2030006759 | X:129,264,136 | C/T | — | uncertain significance |
| rs1556252472 | X:129,264,141 | C/T | — | uncertain significance |
| rs769388847 | X:129,264,144 | G/A | — | uncertain significance |
| rs749868550 | X:129,264,161 | C/A | — | likely benign |
| rs210023 | X:129,265,394 | A/G | — | benign |
| rs1173651250 | X:129,265,647 | T/C | — | uncertain significance |
| rs1220988295 | X:129,265,664 | G/A | — | likely benign |
| rs1395668909 | X:129,265,670 | T/C | — | uncertain significance |
| rs144266307 | X:129,265,680 | C/T | — | likely benign |
| rs369259253 | X:129,265,689 | T/C | — | uncertain significance |
| rs2030089803 | X:129,265,717 | C/A | — | uncertain significance |
| rs769816388 | X:129,265,722 | T/A | — | uncertain significance |
| rs2124646080 | X:129,265,728 | C/A | — | uncertain significance |
| rs724160023 | X:129,265,731 | C/T | missense variant | pathogenic |
| rs2030090475 | X:129,265,740 | T/C | — | uncertain significance |
| rs1556254400 | X:129,265,742 | G/A | — | uncertain significance |
| rs748774215 | X:129,265,744 | T/C | — | likely benign |
| rs281864468 | X:129,265,745 | T/A | missense variant | pathogenic |
| rs61752975 | X:129,265,748 | T/C | — | likely benign |
| rs1240534182 | X:129,265,750 | G/A | — | likely benign |
| rs748493176 | X:129,265,758 | C/T | — | uncertain significance |
| rs146608893 | X:129,265,759 | G/A | — | likely benign |
| rs2523104459 | X:129,265,760 | G/A | — | pathogenic |
| rs762808288 | X:129,265,765 | C/T | — | likely benign |
| rs2030093955 | X:129,265,784 | G/C | — | likely benign |
| rs186297906 | X:129,265,834 | T/C | — | likely benign |
| rs113592554 | X:129,267,073 | T/C | — | likely benign |
Showing 100 of 450 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.