AIFM1 (apoptosis inducing factor mitochondria associated 1) - Rat Genome Database

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Gene: AIFM1 (apoptosis inducing factor mitochondria associated 1) Homo sapiens
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Symbol: AIFM1
Name: apoptosis inducing factor mitochondria associated 1
RGD ID: 731380
HGNC Page HGNC
Description: Enables DNA binding activity; FAD binding activity; and NAD(P)H oxidase H2O2-forming activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; mitochondrion organization; and neuron differentiation. Located in mitochondrial intermembrane space and nucleus. Implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked deafness 5; and combined oxidative phosphorylation deficiency 6. Biomarker of Alzheimer's disease and dilated cardiomyopathy 1H.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIF; apoptosis inducing factor, mitochondria associated 1; apoptosis-inducing factor 1, mitochondrial; apoptosis-inducing factor, mitochondrion-associated, 1; auditory neuropathy, X-linked recessive 1; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; MGC111425; NADMR; NAMSD; Neuropathy, axonal motor-sensory, with deafness and mental retardation; neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome); PDCD8; programmed cell death 8 (apoptosis-inducing factor); SEMDHL; striatal apoptosis-inducing factor; testicular secretory protein Li 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AIFM1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,124,666 - 130,165,879 (-)EnsemblGRCh38hg38GRCh38
GRCh38X130,129,362 - 130,165,841 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,263,337 - 129,299,815 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,091,018 - 129,127,489 (-)NCBINCBI36hg18NCBI36
Build 34X128,988,871 - 129,025,343NCBI
CeleraX129,649,901 - 129,686,423 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,659,694 - 118,695,647 (-)NCBIHuRef
CHM1_1X129,174,949 - 129,211,491 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(+)-sesamin  (ISO)
(+)-Tetrandrine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(-)-gambogic acid  (EXP)
(-)-selegiline  (EXP)
(S)-ropivacaine  (EXP)
(Z)-3-butylidenephthalide  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2-(4-iodo-2,5-dimethoxyphenyl)-1-methylethylamine  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (EXP)
3-methyladenine  (ISO)
4-hydroperoxycyclophosphamide  (EXP)
4-hydroxynon-2-enal  (ISO)
5-fluorouracil  (EXP,ISO)
5-Hydroxycapric acid  (ISO)
6-bromoindirubin-3'-oxime  (EXP)
8-Br-cAMP  (EXP)
9'-cis-neoxanthin  (EXP)
acrolein  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-neoxanthin  (EXP)
all-trans-retinoic acid  (EXP)
alpha-mangostin  (EXP)
alpha-pinene  (EXP)
alvocidib  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
arsenic acid  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
artesunate  (EXP)
astaxanthin  (ISO)
atrazine  (EXP)
Auriculasin  (EXP)
azide  (ISO)
beauvericin  (EXP)
benzamide  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
Brodifacoum  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
canertinib  (ISO)
cantharidin  (EXP)
capsaicin  (EXP)
carbamazepine  (EXP)
casticin  (EXP,ISO)
chlorpyrifos  (EXP)
chromium(6+)  (EXP,ISO)
chrysazin  (EXP)
ciguatoxin CTX1B  (ISO)
cilostazol  (EXP)
cisplatin  (EXP,ISO)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumarins  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
deguelin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
diazoxide  (ISO)
dichlorvos  (ISO)
diclofenac  (EXP)
dimethyl sulfoxide  (ISO)
disodium selenite  (EXP)
dizocilpine maleate  (ISO)
doxorubicin  (EXP,ISO)
ellagic acid  (EXP)
enniatin  (ISO)
entinostat  (EXP)
erdosteine  (ISO)
ethanol  (ISO)
excitatory amino acid agonist  (ISO)
fisetin  (EXP)
flutamide  (ISO)
fomepizole  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glutathione  (EXP)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hexachlorobenzene  (ISO)
homoeriodictyol  (EXP)
hydrogen peroxide  (EXP,ISO)
iodoacetic acid  (ISO)
isoflurane  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
KN-93  (ISO)
lactacystin  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
mangiferin  (ISO)
mechlorethamine  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
minocycline  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monocrotophos  (EXP)
monoethyl phthalate  (ISO)
morin  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
nelfinavir  (ISO)
nickel dichloride  (ISO)
niclosamide  (EXP)
nitric oxide  (EXP)
nitrofen  (EXP)
nitroprusside  (EXP)
norfloxacin  (EXP)
ochratoxin A  (EXP)
ouabain  (EXP)
oxidopamine  (EXP,ISO)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perifosine  (EXP)
phenanthridone  (EXP)
phenobarbital  (EXP)
phenylephrine  (EXP)
phosphatidylcholine  (EXP)
phytosphingosine  (EXP)
picoxystrobin  (EXP)
Pranoprofen  (EXP)
quercetin  (EXP,ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
rosmarinic acid  (ISO)
rotenone  (EXP,ISO)
rubitecan  (EXP)
S-nitroso-N-acetyl-D-penicillamine  (EXP)
sappanchalcone  (EXP)
SB 203580  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP,ISO)
Soman  (ISO)
sorafenib  (EXP)
streptozocin  (ISO)
sulfasalazine  (EXP)
sulforaphane  (EXP)
sulindac  (EXP)
swainsonine  (ISO)
tephrosin  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thymol  (EXP)
thymol sulfate(1-)  (EXP)
thymoquinone  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
ursolic acid  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
wortmannin  (ISO)
Z-Val-Phe-H  (ISO)
zearalenone  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal astrocyte morphology  (IAGP)
Abnormal brainstem MRI signal intensity  (IAGP)
Abnormal corpus striatum morphology  (IAGP)
Abnormal middle ear reflexes  (IAGP)
Abnormal speech discrimination  (IAGP)
Abnormality of the basal ganglia  (IAGP)
Abnormality of the optic nerve  (IAGP)
Anterior rib cupping  (IAGP)
Anteverted nares  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Babinski sign  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Broad nasal tip  (IAGP)
Broad palm  (IAGP)
Cerebral atrophy  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Cone-shaped capital femoral epiphysis  (IAGP)
Coxa vara  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Enlargement of the wrists  (IAGP)
Fasciculations  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flared iliac wing  (IAGP)
Flattened epiphysis  (IAGP)
Flexion contracture  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypokinesia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hyporeflexia  (IAGP)
Impaired pain sensation  (IAGP)
Increased connective tissue  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Increased serum pyruvate  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Irritability  (IAGP)
Kyphosis  (IAGP)
Large knee  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Metaphyseal chondrodysplasia  (IAGP)
Metaphyseal cupping of metacarpals  (IAGP)
Metaphyseal widening  (IAGP)
Midface retrusion  (IAGP)
Moderate global developmental delay  (IAGP)
Morphological abnormality of the pyramidal tract  (IAGP)
Motor axonal neuropathy  (IAGP)
Muscle weakness  (IAGP)
Optic disc pallor  (IAGP)
Peg-like central prominence of distal tibial metaphyses  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Polyneuropathy  (IAGP)
Progressive  (IAGP)
Prominent sternum  (IAGP)
Prostate cancer  (IAGP)
Psychomotor retardation  (IAGP)
Ragged-red muscle fibers  (IAGP)
Reduced bone mineral density  (IAGP)
Respiratory distress  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory axonal neuropathy  (IAGP)
Sensory neuropathy  (IAGP)
Severe muscular hypotonia  (IAGP)
Short femoral neck  (IAGP)
Short finger  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep disturbance  (IAGP)
Slowly progressive  (IAGP)
Small epiphyses  (IAGP)
Spastic paraplegia  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Tetraplegia  (IAGP)
Thick eyebrow  (IAGP)
Thin ribs  (IAGP)
Thoracic kyphosis  (IAGP)
Tinnitus  (IAGP)
Toe walking  (IAGP)
Tongue fasciculations  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
Visual impairment  (IAGP)
Widened subarachnoid space  (IAGP)
Wormian bones  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
1. Baker DJ and Hepple RT, Exp Gerontol. 2006 Nov;41(11):1149-56. Epub 2006 Oct 6.
2. Cao G, etal., J Cereb Blood Flow Metab. 2003 Oct;23(10):1137-50.
3. Colak D, etal., Genomics. 2009 Jul;94(1):20-31. doi: 10.1016/j.ygeno.2009.03.003. Epub 2009 Mar 28.
4. GOA_HUMAN data from the GO Consortium
5. Hisatomi T, etal., Am J Pathol. 2001 Apr;158(4):1271-8.
6. Lee JH, etal., Anat Cell Biol. 2012 Mar;45(1):26-37. doi: 10.5115/acb.2012.45.1.26. Epub 2012 Mar 31.
7. Li WJ and Oh SJ, Neurourol Urodyn. 2010 Sep;29(7):1332-7. doi: 10.1002/nau.20869.
8. OMIM Disease Annotation Pipeline
9. Ozaki T, etal., PLoS One. 2013 Aug 9;8(8):e71650. doi: 10.1371/journal.pone.0071650. eCollection 2013.
10. Pipeline to import KEGG annotations from KEGG into RGD
11. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. Plesnila N, etal., J Cereb Blood Flow Metab. 2004 Apr;24(4):458-66.
13. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. RGD automated import pipeline for gene-chemical interactions
15. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Xu A, etal., Biochem Biophys Res Commun. 2013 Jun 14;435(4):627-33. doi: 10.1016/j.bbrc.2013.05.033. Epub 2013 May 16.
17. Yang X, etal., Neuroscience. 2017 Mar 27;346:74-80. doi: 10.1016/j.neuroscience.2017.01.010. Epub 2017 Jan 17.
18. Yu W, etal., BMC Neurosci. 2014 Jun 10;15:73. doi: 10.1186/1471-2202-15-73.
19. Zhang X, etal., J Neurochem. 2002 Jul;82(1):181-91.
20. Zhao H, etal., J Cereb Blood Flow Metab. 2004 Jun;24(6):681-92.
21. Zhu C, etal., J Neurochem. 2003 Jul;86(2):306-17.
Additional References at PubMed
PMID:1202295   PMID:8619474   PMID:9110174   PMID:9206994   PMID:9892620   PMID:9989411   PMID:10744629   PMID:10913597   PMID:11193032   PMID:11279485   PMID:11533664   PMID:12022952  
PMID:12198487   PMID:12404120   PMID:12477932   PMID:12535654   PMID:12629154   PMID:12668724   PMID:12930708   PMID:12972945   PMID:14585540   PMID:14716299   PMID:15033690   PMID:15182854  
PMID:15286713   PMID:15316071   PMID:15489334   PMID:15526035   PMID:15703386   PMID:15729291   PMID:15772651   PMID:15775970   PMID:16049016   PMID:16133872   PMID:16169070   PMID:16344560  
PMID:16365034   PMID:16511342   PMID:16628003   PMID:16644725   PMID:16713569   PMID:16729031   PMID:16816020   PMID:17094969   PMID:17107772   PMID:17110338   PMID:17148452   PMID:17347867  
PMID:17352692   PMID:17353931   PMID:17471535   PMID:17492772   PMID:17560018   PMID:17603079   PMID:17709377   PMID:17822623   PMID:17967870   PMID:18056262   PMID:18306460   PMID:18309324  
PMID:18593521   PMID:18806756   PMID:18821579   PMID:19064571   PMID:19197367   PMID:19380743   PMID:19418225   PMID:19578750   PMID:19598027   PMID:19669652   PMID:19723031   PMID:19723032  
PMID:19765186   PMID:19781850   PMID:19913121   PMID:20000738   PMID:20111043   PMID:20177052   PMID:20228227   PMID:20301532   PMID:20360068   PMID:20362274   PMID:20450583   PMID:20450942  
PMID:20628086   PMID:20706999   PMID:20833797   PMID:20974255   PMID:21075090   PMID:21113133   PMID:21145461   PMID:21182205   PMID:21206973   PMID:21293491   PMID:21343306   PMID:21364629  
PMID:21415862   PMID:21616126   PMID:21715506   PMID:21732781   PMID:21822214   PMID:21873635   PMID:21875946   PMID:22019070   PMID:22103349   PMID:22133578   PMID:22134679   PMID:22268729  
PMID:22328780   PMID:22371500   PMID:22438963   PMID:22658674   PMID:22688575   PMID:22810586   PMID:22839996   PMID:22939629   PMID:23077592   PMID:23118229   PMID:23125841   PMID:23217327  
PMID:23398456   PMID:23438482   PMID:23443329   PMID:23455922   PMID:23515028   PMID:23673989   PMID:23682427   PMID:23752268   PMID:23798571   PMID:23824909   PMID:23874603   PMID:23955799  
PMID:24040019   PMID:24189400   PMID:24244333   PMID:24247248   PMID:24337577   PMID:24344204   PMID:24413738   PMID:24434313   PMID:24434516   PMID:24457600   PMID:24511002   PMID:24607566  
PMID:24628719   PMID:24684389   PMID:24711643   PMID:24797263   PMID:24832602   PMID:24884644   PMID:24889240   PMID:24914854   PMID:24992339   PMID:25048111   PMID:25110935   PMID:25246086  
PMID:25280774   PMID:25283819   PMID:25294638   PMID:25315684   PMID:25324306   PMID:25437307   PMID:25486353   PMID:25549939   PMID:25561728   PMID:25583628   PMID:25659154   PMID:25661514  
PMID:25758767   PMID:25798074   PMID:25799586   PMID:25813094   PMID:25852190   PMID:25868101   PMID:25874633   PMID:25885900   PMID:25909282   PMID:25921289   PMID:25934856   PMID:25937300  
PMID:25943027   PMID:25949267   PMID:25954805   PMID:25959826   PMID:25972151   PMID:25976011   PMID:25976678   PMID:25986071   PMID:25998745   PMID:26004228   PMID:26012840   PMID:26027833  
PMID:26035067   PMID:26042464   PMID:26044191   PMID:26063804   PMID:26066050   PMID:26074733   PMID:26112407   PMID:26119781   PMID:26122529   PMID:26137088   PMID:26148186   PMID:26158520  
PMID:26164795   PMID:26165468   PMID:26173962   PMID:26188334   PMID:26197224   PMID:26204398   PMID:26206088   PMID:26231658   PMID:26237213   PMID:26252009   PMID:26258875   PMID:26259540  
PMID:26293804   PMID:26304929   PMID:26313915   PMID:26313918   PMID:26344197   PMID:26415504   PMID:26471122   PMID:26472760   PMID:26485645   PMID:26496610   PMID:26535916   PMID:26549023  
PMID:26582913   PMID:26618866   PMID:26638075   PMID:26725010   PMID:26752685   PMID:26920061   PMID:26972000   PMID:27025967   PMID:27046389   PMID:27102849   PMID:27108222   PMID:27178839  
PMID:27197168   PMID:27218139   PMID:27320910   PMID:27375898   PMID:27444183   PMID:27453270   PMID:27503909   PMID:27543779   PMID:27591049   PMID:27609421   PMID:27637333   PMID:27684187  
PMID:27705803   PMID:27818101   PMID:27853862   PMID:27880917   PMID:28027390   PMID:28055012   PMID:28302793   PMID:28330616   PMID:28378594   PMID:28442737   PMID:28446751   PMID:28514442  
PMID:28515276   PMID:28562483   PMID:28627586   PMID:28685749   PMID:28842795   PMID:28888069   PMID:28975462   PMID:29117863   PMID:29128334   PMID:29227477   PMID:29229926   PMID:29298432  
PMID:29331416   PMID:29395067   PMID:29467282   PMID:29489384   PMID:29501488   PMID:29507755   PMID:29509794   PMID:29568061   PMID:29656893   PMID:29676528   PMID:29777862   PMID:29891613  
PMID:29991511   PMID:30021884   PMID:30093403   PMID:30166453   PMID:30209976   PMID:30349055   PMID:30450916   PMID:30455355   PMID:30463901   PMID:30559450   PMID:30575818   PMID:30581152  
PMID:30619736   PMID:30652415   PMID:30669930   PMID:30833792   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31014355   PMID:31056398   PMID:31059266   PMID:31091453   PMID:31133695  
PMID:31221176   PMID:31267705   PMID:31280863   PMID:31300519   PMID:31353912   PMID:31501420   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31620119   PMID:31792442   PMID:31980649  
PMID:32129710   PMID:32176739   PMID:32269044   PMID:32382008   PMID:32552912   PMID:32683582   PMID:32684920   PMID:32694731   PMID:32780723   PMID:32791141   PMID:32807901   PMID:32848167  
PMID:32877691   PMID:32941674   PMID:33144569   PMID:33168626   PMID:33306668   PMID:33439541   PMID:33499712   PMID:33510840   PMID:33567341   PMID:33731348   PMID:33742100   PMID:33898171  
PMID:33957083   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
AIFM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,124,666 - 130,165,879 (-)EnsemblGRCh38hg38GRCh38
GRCh38X130,129,362 - 130,165,841 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,263,337 - 129,299,815 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,091,018 - 129,127,489 (-)NCBINCBI36hg18NCBI36
Build 34X128,988,871 - 129,025,343NCBI
CeleraX129,649,901 - 129,686,423 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,659,694 - 118,695,647 (-)NCBIHuRef
CHM1_1X129,174,949 - 129,211,491 (-)NCBICHM1_1
Aifm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X47,563,821 - 47,602,440 (-)NCBIGRCm39mm39
GRCm39 EnsemblX47,563,821 - 47,602,440 (-)Ensembl
GRCm38X48,474,944 - 48,513,563 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX48,474,944 - 48,513,563 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X45,828,121 - 45,866,603 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X44,719,571 - 44,758,053 (-)NCBImm8
CeleraX35,976,732 - 36,015,059 (-)NCBICelera
Cytogenetic MapXA5NCBI
cM MapX25.68NCBI
Aifm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X127,650,223 - 127,689,356 (-)NCBImRatBN7.2
mRatBN7.2 EnsemblX127,650,226 - 127,689,256 (-)Ensembl
Rnor_6.0X135,304,063 - 135,343,062 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX135,304,066 - 135,343,087 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X135,375,533 - 135,414,532 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X134,868,878 - 134,908,166 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X134,942,310 - 134,981,599 (-)NCBI
CeleraX126,598,666 - 126,637,656 (-)NCBICelera
Cytogenetic MapXq36NCBI
Aifm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554734,891,955 - 4,926,428 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554734,891,955 - 4,925,705 (+)NCBIChiLan1.0ChiLan1.0
AIFM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X129,550,287 - 129,586,271 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX129,550,287 - 129,586,271 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X119,256,425 - 119,292,612 (-)NCBIMhudiblu_PPA_v0panPan3
AIFM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X101,275,027 - 101,307,551 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX101,275,017 - 101,307,367 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX87,452,794 - 87,485,312 (-)NCBI
ROS_Cfam_1.0X103,131,319 - 103,163,843 (-)NCBI
UMICH_Zoey_3.1X100,548,672 - 100,581,159 (-)NCBI
UNSW_CanFamBas_1.0X102,394,696 - 102,427,200 (-)NCBI
UU_Cfam_GSD_1.0X102,173,062 - 102,205,583 (-)NCBI
Aifm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X99,510,362 - 99,545,953 (-)NCBI
SpeTri2.0NW_0049364791,441,508 - 1,477,133 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIFM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX106,670,519 - 106,708,317 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X106,676,596 - 106,708,290 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X122,445,239 - 122,476,575 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AIFM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X105,383,408 - 105,419,146 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 EnsemblX105,382,693 - 105,419,095 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606542,809,379 - 42,845,438 (-)NCBIVero_WHO_p1.0
Aifm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247979,346,620 - 9,384,531 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
DXS7034E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,265,357 - 129,265,515UniSTSGRCh37
Build 36X129,093,038 - 129,093,196RGDNCBI36
CeleraX129,651,921 - 129,652,079RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,661,714 - 118,661,872UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS
STS-AA001364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,294,264 - 129,294,389UniSTSGRCh37
Build 36X129,121,945 - 129,122,070RGDNCBI36
CeleraX129,680,829 - 129,680,954RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,690,290 - 118,690,415UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
RH12533  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.1UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2906
Count of miRNA genes:813
Interacting mature miRNAs:949
Transcripts:ENST00000287295, ENST00000319908, ENST00000346424, ENST00000416073, ENST00000440263, ENST00000460436, ENST00000527892, ENST00000529877, ENST00000533719, ENST00000535724
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2381 2145 1698 613 1280 457 4228 2066 2576 414 1412 1546 169 1177 2719 4
Low 54 843 26 10 670 7 127 130 1143 5 35 65 2 27 69 1
Below cutoff 2 1 2 1 1 15 6 2 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_132647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF100928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI521711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY795556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY795557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM807180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA624842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB119488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ016496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ016498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ016500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287295   ⟹   ENSP00000287295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,841 (-)Ensembl
RefSeq Acc Id: ENST00000319908   ⟹   ENSP00000315122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,375 - 130,165,830 (-)Ensembl
RefSeq Acc Id: ENST00000346424   ⟹   ENSP00000316320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,680 (-)Ensembl
RefSeq Acc Id: ENST00000416073   ⟹   ENSP00000402535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,365 - 130,165,693 (-)Ensembl
RefSeq Acc Id: ENST00000460436   ⟹   ENSP00000431222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,138,040 (-)Ensembl
RefSeq Acc Id: ENST00000527892   ⟹   ENSP00000435955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,664 (-)Ensembl
RefSeq Acc Id: ENST00000529877   ⟹   ENSP00000432998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,147,609 - 130,165,759 (-)Ensembl
RefSeq Acc Id: ENST00000533719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,133,088 - 130,156,501 (-)Ensembl
RefSeq Acc Id: ENST00000535724   ⟹   ENSP00000446113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,664 (-)Ensembl
RefSeq Acc Id: ENST00000674546   ⟹   ENSP00000501950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,359 - 130,165,841 (-)Ensembl
RefSeq Acc Id: ENST00000674555   ⟹   ENSP00000502183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,411 - 130,165,713 (-)Ensembl
RefSeq Acc Id: ENST00000674582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,376 - 130,133,429 (-)Ensembl
RefSeq Acc Id: ENST00000674591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,400 - 130,132,733 (-)Ensembl
RefSeq Acc Id: ENST00000674601   ⟹   ENSP00000502764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,535 - 130,137,140 (-)Ensembl
RefSeq Acc Id: ENST00000674722   ⟹   ENSP00000501693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,422 - 130,165,669 (-)Ensembl
RefSeq Acc Id: ENST00000674957   ⟹   ENSP00000501985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,128,662 - 130,149,518 (-)Ensembl
RefSeq Acc Id: ENST00000674997   ⟹   ENSP00000502124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,373 - 130,165,656 (-)Ensembl
RefSeq Acc Id: ENST00000675015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,133,411 - 130,138,034 (-)Ensembl
RefSeq Acc Id: ENST00000675037   ⟹   ENSP00000501724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,422 - 130,165,712 (-)Ensembl
RefSeq Acc Id: ENST00000675050   ⟹   ENSP00000502606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,124,666 - 130,165,727 (-)Ensembl
RefSeq Acc Id: ENST00000675092   ⟹   ENSP00000501772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,746 (-)Ensembl
RefSeq Acc Id: ENST00000675111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,404 - 130,156,634 (-)Ensembl
RefSeq Acc Id: ENST00000675240   ⟹   ENSP00000501907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,397 - 130,165,825 (-)Ensembl
RefSeq Acc Id: ENST00000675427   ⟹   ENSP00000501880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,745 (-)Ensembl
RefSeq Acc Id: ENST00000675774   ⟹   ENSP00000502690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,138,063 - 130,165,697 (-)Ensembl
RefSeq Acc Id: ENST00000675857   ⟹   ENSP00000502721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,362 - 130,165,738 (-)Ensembl
RefSeq Acc Id: ENST00000676048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,384 - 130,158,526 (-)Ensembl
RefSeq Acc Id: ENST00000676144   ⟹   ENSP00000501890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,136,665 - 130,149,533 (-)Ensembl
RefSeq Acc Id: ENST00000676229   ⟹   ENSP00000502184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,127,453 - 130,165,879 (-)Ensembl
RefSeq Acc Id: ENST00000676328   ⟹   ENSP00000502068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,366 - 130,165,712 (-)Ensembl
RefSeq Acc Id: ENST00000676436   ⟹   ENSP00000502669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,129,373 - 130,165,690 (-)Ensembl
RefSeq Acc Id: NM_001130846   ⟹   NP_001124318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,129,362 - 130,138,040 (-)NCBI
GRCh37X129,263,337 - 129,299,861 (-)ENTREZGENE
HuRefX118,659,694 - 118,695,647 (-)ENTREZGENE
CHM1_1X129,174,949 - 129,183,628 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130847   ⟹   NP_001124319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,129,362 - 130,165,841 (-)NCBI
GRCh37X129,263,337 - 129,299,861 (-)ENTREZGENE
HuRefX118,659,694 - 118,695,647 (-)ENTREZGENE
CHM1_1X129,174,949 - 129,211,491 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004208   ⟹   NP_004199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,129,362 - 130,165,841 (-)NCBI
GRCh37X129,263,337 - 129,299,861 (-)ENTREZGENE
Build 36X129,091,018 - 129,127,489 (-)NCBI Archive
HuRefX118,659,694 - 118,695,647 (-)ENTREZGENE
CHM1_1X129,174,949 - 129,211,491 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145812   ⟹   NP_665811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,129,362 - 130,165,841 (-)NCBI
GRCh37X129,263,337 - 129,299,861 (-)ENTREZGENE
Build 36X129,091,018 - 129,127,489 (-)NCBI Archive
HuRefX118,659,694 - 118,695,647 (-)ENTREZGENE
CHM1_1X129,174,949 - 129,211,491 (-)NCBI
Sequence:
RefSeq Acc Id: NR_132647
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,129,362 - 130,165,841 (-)NCBI
CHM1_1X129,174,949 - 129,211,491 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_665811   ⟸   NM_145812
- Peptide Label: isoform AIF-exB precursor
- UniProtKB: O95831 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004199   ⟸   NM_004208
- Peptide Label: isoform AIF precursor
- UniProtKB: O95831 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124319   ⟸   NM_001130847
- Peptide Label: isoform AIFsh2 precursor
- UniProtKB: O95831 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124318   ⟸   NM_001130846
- Peptide Label: isoform AIFsh
- UniProtKB: O95831 (UniProtKB/Swiss-Prot),   E9PMA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000316320   ⟸   ENST00000346424
RefSeq Acc Id: ENSP00000402535   ⟸   ENST00000416073
RefSeq Acc Id: ENSP00000446113   ⟸   ENST00000535724
RefSeq Acc Id: ENSP00000287295   ⟸   ENST00000287295
RefSeq Acc Id: ENSP00000435955   ⟸   ENST00000527892
RefSeq Acc Id: ENSP00000431222   ⟸   ENST00000460436
RefSeq Acc Id: ENSP00000432998   ⟸   ENST00000529877
RefSeq Acc Id: ENSP00000315122   ⟸   ENST00000319908
RefSeq Acc Id: ENSP00000502124   ⟸   ENST00000674997
RefSeq Acc Id: ENSP00000501985   ⟸   ENST00000674957
RefSeq Acc Id: ENSP00000501693   ⟸   ENST00000674722
RefSeq Acc Id: ENSP00000502764   ⟸   ENST00000674601
RefSeq Acc Id: ENSP00000501950   ⟸   ENST00000674546
RefSeq Acc Id: ENSP00000502183   ⟸   ENST00000674555
RefSeq Acc Id: ENSP00000502721   ⟸   ENST00000675857
RefSeq Acc Id: ENSP00000502690   ⟸   ENST00000675774
RefSeq Acc Id: ENSP00000501880   ⟸   ENST00000675427
RefSeq Acc Id: ENSP00000501907   ⟸   ENST00000675240
RefSeq Acc Id: ENSP00000501772   ⟸   ENST00000675092
RefSeq Acc Id: ENSP00000501724   ⟸   ENST00000675037
RefSeq Acc Id: ENSP00000502606   ⟸   ENST00000675050
RefSeq Acc Id: ENSP00000502184   ⟸   ENST00000676229
RefSeq Acc Id: ENSP00000501890   ⟸   ENST00000676144
RefSeq Acc Id: ENSP00000502669   ⟸   ENST00000676436
RefSeq Acc Id: ENSP00000502068   ⟸   ENST00000676328
Protein Domains
AIF_C   Pyr_redox_2

Promoters
RGD ID:6808472
Promoter ID:HG_KWN:68029
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000058250,   UC004EVF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X129,100,326 - 129,100,826 (-)MPROMDB
RGD ID:6808471
Promoter ID:HG_KWN:68030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000287295,   ENST00000319908,   ENST00000346424,   UC004EVJ.1,   UC004EVK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X129,127,416 - 129,127,927 (-)MPROMDB
RGD ID:13628088
Promoter ID:EPDNEW_H29319
Type:initiation region
Name:AIFM1_2
Description:apoptosis inducing factor mitochondria associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29320  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,165,723 - 130,165,783EPDNEW
RGD ID:13628090
Promoter ID:EPDNEW_H29320
Type:initiation region
Name:AIFM1_1
Description:apoptosis inducing factor mitochondria associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29319  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,165,841 - 130,165,901EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000552596] ChrX:130147501 [GRCh38]
ChrX:129281476 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.710A>T (p.Asp237Val) single nucleotide variant not provided [RCV000521704] ChrX:130140604 [GRCh38]
ChrX:129274579 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1574G>A (p.Gly525Glu) single nucleotide variant not provided [RCV000521771] ChrX:130130166 [GRCh38]
ChrX:129264141 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.720C>T (p.Asp240=) single nucleotide variant AIFM1-related hypomyelination with spondylometaphyseal dysplasia [RCV000735220]|Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856717] ChrX:130140594 [GRCh38]
ChrX:129274569 [GRCh37]
ChrX:Xq26.1
pathogenic|uncertain significance
NM_004208.4(AIFM1):c.1075+170C>T single nucleotide variant not provided [RCV001544602] ChrX:130136908 [GRCh38]
ChrX:129270883 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.603_605del (p.Arg201del) deletion Combined oxidative phosphorylation deficiency 6 [RCV000012302] ChrX:130147493..130147495 [GRCh38]
ChrX:129281468..129281470 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) single nucleotide variant Cowchock syndrome [RCV000032801] ChrX:130131770 [GRCh38]
ChrX:129265745 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000464101]|Charcot-Marie-Tooth disease [RCV001173142]|Combined oxidative phosphorylation deficiency 6 [RCV000374413]|not provided [RCV000676787]|not specified [RCV000123565] ChrX:130138642 [GRCh38]
ChrX:129272617 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.968-358C>T single nucleotide variant not specified [RCV000123566] ChrX:130137543 [GRCh38]
ChrX:129271518 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000468210]|Charcot-Marie-Tooth disease [RCV001173141]|Combined oxidative phosphorylation deficiency 6 [RCV000321843]|not provided [RCV000676786]|not specified [RCV000123567] ChrX:130137157 [GRCh38]
ChrX:129271132 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000528490]|Charcot-Marie-Tooth disease [RCV001173133]|Combined oxidative phosphorylation deficiency 6 [RCV000361279]|none provided [RCV001285392]|not specified [RCV000123568] ChrX:130133432 [GRCh38]
ChrX:129267407 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000553366]|Charcot-Marie-Tooth disease [RCV001173140]|Combined oxidative phosphorylation deficiency 6 [RCV001166264]|not specified [RCV000123569] ChrX:130133345 [GRCh38]
ChrX:129267320 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1833T>C (p.His611=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001086869]|Charcot-Marie-Tooth disease [RCV001173139]|Combined oxidative phosphorylation deficiency 6 [RCV001169185]|not provided [RCV000676784]|not specified [RCV000123570] ChrX:130129566 [GRCh38]
ChrX:129263541 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000475567]|Combined oxidative phosphorylation deficiency 6 [RCV000333876]|not provided [RCV001573470]|not specified [RCV000123571] ChrX:130165554 [GRCh38]
ChrX:129299528 [GRCh37]
ChrX:Xq26.1
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000868580]|Deafness, X-linked 5 [RCV000149862] ChrX:130137123 [GRCh38]
ChrX:129271098 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu) single nucleotide variant Malignant tumor of prostate [RCV000149347] ChrX:130147601 [GRCh38]
ChrX:129281576 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 copy number gain See cases [RCV000143055] ChrX:129192846..130323929 [GRCh38]
ChrX:128326823..129457903 [GRCh37]
ChrX:128154504..129285584 [NCBI36]
ChrX:Xq25-26.1
uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_004208.4(AIFM1):c.-123G>C single nucleotide variant Deafness, X-linked 5 [RCV000149857] ChrX:130165779 [GRCh38]
ChrX:129299753 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) single nucleotide variant Deafness, X-linked 5 [RCV000149858] ChrX:130147792 [GRCh38]
ChrX:129281767 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) indel Deafness, X-linked 5 [RCV000149859] ChrX:130147525..130147526 [GRCh38]
ChrX:129281500..129281501 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001347906]|Deafness, X-linked 5 [RCV000149860] ChrX:130139808 [GRCh38]
ChrX:129273783 [GRCh37]
ChrX:Xq26.1
likely pathogenic|uncertain significance
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) single nucleotide variant Deafness, X-linked 5 [RCV000149861] ChrX:130138700 [GRCh38]
ChrX:129272675 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) single nucleotide variant Deafness, X-linked 5 [RCV000149863] ChrX:130136710 [GRCh38]
ChrX:129270685 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001383393]|Deafness, X-linked 5 [RCV000149864]|not provided [RCV001532712] ChrX:130136086 [GRCh38]
ChrX:129270061 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) single nucleotide variant Deafness, X-linked 5 [RCV000149865] ChrX:130136085 [GRCh38]
ChrX:129270060 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) single nucleotide variant Deafness, X-linked 5 [RCV000149866] ChrX:130133337 [GRCh38]
ChrX:129267312 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) single nucleotide variant Deafness, X-linked 5 [RCV000149867] ChrX:130131756 [GRCh38]
ChrX:129265731 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) single nucleotide variant Deafness, X-linked 5 [RCV000149868] ChrX:130130062 [GRCh38]
ChrX:129264037 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) single nucleotide variant Deafness, X-linked 5 [RCV000149869] ChrX:130133442 [GRCh38]
ChrX:129267417 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) single nucleotide variant Deafness, X-linked 5 [RCV000149870] ChrX:130136729 [GRCh38]
ChrX:129270704 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) single nucleotide variant Deafness, X-linked 5 [RCV000149871]|not provided [RCV000904868] ChrX:130136694 [GRCh38]
ChrX:129270669 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000554197]|Charcot-Marie-Tooth disease [RCV001173134]|Combined oxidative phosphorylation deficiency 6 [RCV000264409]|not specified [RCV000197100] ChrX:130137106 [GRCh38]
ChrX:129271081 [GRCh37]
ChrX:Xq26.1
benign|likely benign|uncertain significance
NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly) single nucleotide variant not provided [RCV000197930] ChrX:130136166 [GRCh38]
ChrX:129270141 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.1642C>T (p.Pro548Ser) single nucleotide variant not specified [RCV000198976] ChrX:130130098 [GRCh38]
ChrX:129264073 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.3(AIFM1):c.1820T>A (p.Leu607Gln) single nucleotide variant not provided [RCV000199085] ChrX:130129579 [GRCh38]
ChrX:129263554 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654858]|not provided [RCV001722087] ChrX:130156576 [GRCh38]
ChrX:129290550 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001071849]|Combined oxidative phosphorylation deficiency 6 [RCV000768430]|not provided [RCV000196053] ChrX:130147774 [GRCh38]
ChrX:129281749 [GRCh37]
ChrX:Xq26.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
AIFM1, LEU344PHE (rs184474885) variation Deafness, X-linked 5 [RCV000202356]   pathogenic
AIFM1, ARG422GLN variation Deafness, X-linked 5 [RCV000202358]   pathogenic
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) single nucleotide variant Deafness, X-linked 5 [RCV000202359] ChrX:130140536 [GRCh38]
ChrX:129274511 [GRCh37]
ChrX:Xq26.1
pathogenic
AIFM1, ARG422TRP variation Deafness, X-linked 5 [RCV000202362]   pathogenic
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) single nucleotide variant Deafness, X-linked 5 [RCV000202363] ChrX:130133409 [GRCh38]
ChrX:129267384 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000538656]|Cowchock syndrome [RCV000235074]|not provided [RCV000837953] ChrX:130133373 [GRCh38]
ChrX:129267348 [GRCh37]
ChrX:Xq26.1
likely pathogenic|likely benign|uncertain significance
NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000233284] ChrX:130149531 [GRCh38]
ChrX:129283506 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.*49C>T single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000270368] ChrX:130129508 [GRCh38]
ChrX:129263483 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654863]|Combined oxidative phosphorylation deficiency 6 [RCV000316193]|not provided [RCV001576700] ChrX:130147860 [GRCh38]
ChrX:129281835 [GRCh37]
ChrX:Xq26.1
benign|likely benign|uncertain significance
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001510462]|Charcot-Marie-Tooth disease [RCV001173144]|Combined oxidative phosphorylation deficiency 6 [RCV000373191]|Deafness, X-linked 5 [RCV000990945]|Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV001548989]|not provided [RCV000676788] ChrX:130149545 [GRCh38]
ChrX:129283520 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.-185G>A single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000401191] ChrX:130165841 [GRCh38]
ChrX:129299815 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.-140C>G single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000294173] ChrX:130165796 [GRCh38]
ChrX:129299770 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000295299] ChrX:130149556 [GRCh38]
ChrX:129283531 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001085808]|Charcot-Marie-Tooth disease [RCV001173138]|Combined oxidative phosphorylation deficiency 6 [RCV000386138]|not provided [RCV000762669] ChrX:130165585 [GRCh38]
ChrX:129299559 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.606-15C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173143]|Combined oxidative phosphorylation deficiency 6 [RCV000263434]|not specified [RCV000435122] ChrX:130145584 [GRCh38]
ChrX:129279559 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.-165G>A single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000346794] ChrX:130165821 [GRCh38]
ChrX:129299795 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000304209] ChrX:130130093 [GRCh38]
ChrX:129264068 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000408758] ChrX:130133325 [GRCh38]
ChrX:129267300 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser) single nucleotide variant not provided [RCV000489087] ChrX:130147520 [GRCh38]
ChrX:129281495 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.967+119A>T single nucleotide variant not provided [RCV001565959] ChrX:130138474 [GRCh38]
ChrX:129272449 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.697-192G>A single nucleotide variant not provided [RCV001547566] ChrX:130140809 [GRCh38]
ChrX:129274784 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172831]|not provided [RCV000490175] ChrX:130147496 [GRCh38]
ChrX:129281471 [GRCh37]
ChrX:Xq26.1
likely pathogenic|uncertain significance
NM_004208.4(AIFM1):c.1479A>G (p.Glu493=) single nucleotide variant not specified [RCV000604772] ChrX:130131769 [GRCh38]
ChrX:129265744 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001040748]|not provided [RCV000730174] ChrX:130138608 [GRCh38]
ChrX:129272583 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001385157]|Cowchock syndrome [RCV000789722]|Sensorineural hearing loss [RCV000415225]|not provided [RCV001311404] ChrX:130137134 [GRCh38]
ChrX:129271109 [GRCh37]
ChrX:Xq26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004208.4(AIFM1):c.801G>A (p.Leu267=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000530870] ChrX:130139852 [GRCh38]
ChrX:129273827 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000531658] ChrX:130131767 [GRCh38]
ChrX:129265742 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) single nucleotide variant Leukodystrophy [RCV000414973]|Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV001198204] ChrX:130130094 [GRCh38]
ChrX:129264069 [GRCh37]
ChrX:Xq26.1
likely pathogenic|uncertain significance
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000812665]|Charcot-Marie-Tooth disease [RCV001172830]|not specified [RCV000413652] ChrX:130130143 [GRCh38]
ChrX:129264118 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.474+13T>G single nucleotide variant not specified [RCV000424517] ChrX:130147739 [GRCh38]
ChrX:129281714 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654865]|Combined oxidative phosphorylation deficiency 6 [RCV001166263]|not provided [RCV001705544] ChrX:130130096 [GRCh38]
ChrX:129264071 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1075+20A>G single nucleotide variant not specified [RCV000428698] ChrX:130137058 [GRCh38]
ChrX:129271033 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.696+16G>A single nucleotide variant not specified [RCV000421856] ChrX:130145463 [GRCh38]
ChrX:129279438 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_004208.4(AIFM1):c.349+8T>G single nucleotide variant not specified [RCV000440011] ChrX:130149461 [GRCh38]
ChrX:129283436 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1120G>A (p.Val374Ile) single nucleotide variant not provided [RCV000440195] ChrX:130136687 [GRCh38]
ChrX:129270662 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000459212]|not provided [RCV001572333] ChrX:130131747 [GRCh38]
ChrX:129265722 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000467856]|none provided [RCV001287382] ChrX:130130097 [GRCh38]
ChrX:129264072 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-26.1(chrX:128311362-129281516)x3 copy number gain See cases [RCV000510392] ChrX:128311362..129281516 [GRCh37]
ChrX:Xq25-26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.469G>T (p.Ala157Ser) single nucleotide variant not provided [RCV000497847] ChrX:130147757 [GRCh38]
ChrX:129281732 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000699009]|Cowchock syndrome [RCV000766070]|Inborn genetic diseases [RCV000623865]|not provided [RCV000514093] ChrX:130156540 [GRCh38]
ChrX:129290514 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr) single nucleotide variant not provided [RCV000493175] ChrX:130136146 [GRCh38]
ChrX:129270121 [GRCh37]
ChrX:Xq26.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004208.4(AIFM1):c.782-4C>A single nucleotide variant not specified [RCV000606126] ChrX:130139875 [GRCh38]
ChrX:129273850 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.249+1226G>C single nucleotide variant Inborn genetic diseases [RCV000623671] ChrX:130155235 [GRCh38]
ChrX:129289210 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys) single nucleotide variant not specified [RCV000609681] ChrX:130137117 [GRCh38]
ChrX:129271092 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1794T>C (p.His598=) single nucleotide variant not specified [RCV000610956] ChrX:130129605 [GRCh38]
ChrX:129263580 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.54C>G (p.Pro18=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000861933]|not provided [RCV001698067] ChrX:130165603 [GRCh38]
ChrX:129299577 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1609G>A (p.Glu537Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654857] ChrX:130130131 [GRCh38]
ChrX:129264106 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654859] ChrX:130136693 [GRCh38]
ChrX:129270668 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654860]|Combined oxidative phosphorylation deficiency 6 [RCV001166266]|not provided [RCV001619822] ChrX:130136123 [GRCh38]
ChrX:129270098 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.339C>T (p.Ala113=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654861] ChrX:130149479 [GRCh38]
ChrX:129283454 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1543G>A (p.Asp515Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001505717]|not provided [RCV001697508] ChrX:130131705 [GRCh38]
ChrX:129265680 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654862]|not provided [RCV001719069] ChrX:130138612 [GRCh38]
ChrX:129272587 [GRCh37]
ChrX:Xq26.1
benign|likely benign
NM_004208.4(AIFM1):c.1090A>G (p.Met364Val) single nucleotide variant not provided [RCV000519178] ChrX:130136717 [GRCh38]
ChrX:129270692 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000813177]|not provided [RCV000659180] ChrX:130147542 [GRCh38]
ChrX:129281517 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000698851] ChrX:130136726 [GRCh38]
ChrX:129270701 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1719C>G (p.Val573=) single nucleotide variant not provided [RCV000676785] ChrX:130130021 [GRCh38]
ChrX:129263996 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_004208.4(AIFM1):c.1076-118A>G single nucleotide variant not provided [RCV001567525] ChrX:130136849 [GRCh38]
ChrX:129270824 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq26.1(chrX:128723451-129281476)x2 copy number gain not provided [RCV000753774] ChrX:128723451..129281476 [GRCh37]
ChrX:Xq26.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
null single nucleotide variant not provided [RCV001691147] ChrX:130136005 [GRCh38]
ChrX:129269980 [GRCh37]
ChrX:Xq26.1
benign
null single nucleotide variant not provided [RCV001583451] ChrX:130138293 [GRCh38]
ChrX:129272268 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001681403] ChrX:130145673 [GRCh38]
ChrX:129279648 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.606-100C>T single nucleotide variant not provided [RCV001566310] ChrX:130145669 [GRCh38]
ChrX:129279644 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000907842] ChrX:130138637 [GRCh38]
ChrX:129272612 [GRCh37]
ChrX:Xq26.1
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met) single nucleotide variant Intellectual disability [RCV001004056] ChrX:130138649 [GRCh38]
ChrX:129272624 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.781+202C>T single nucleotide variant not provided [RCV001551435] ChrX:130140331 [GRCh38]
ChrX:129274306 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) single nucleotide variant Deafness, X-linked 5 [RCV000990944] ChrX:130136109 [GRCh38]
ChrX:129270084 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_001813.3(CENPE):c.243T>C (p.Thr81=) single nucleotide variant not provided [RCV001580968] ChrX:130129824 [GRCh38]
ChrX:129263799 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.8G>A (p.Arg3Gln) single nucleotide variant not provided [RCV001570320] ChrX:130165649 [GRCh38]
ChrX:129299623 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001214647]|Combined oxidative phosphorylation deficiency 6 [RCV001166265] ChrX:130133406 [GRCh38]
ChrX:129267381 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.342G>A (p.Ala114=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000866471]|not provided [RCV001574357] ChrX:130149476 [GRCh38]
ChrX:129283451 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) single nucleotide variant Cowchock syndrome [RCV000907854] ChrX:130139869 [GRCh38]
ChrX:129273844 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) single nucleotide variant Cowchock syndrome [RCV000907858] ChrX:130147804 [GRCh38]
ChrX:129281779 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.724A>G (p.Met242Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001037431] ChrX:130140590 [GRCh38]
ChrX:129274565 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.705G>C (p.Gln235His) single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856718] ChrX:130140609 [GRCh38]
ChrX:129274584 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_002185.5(IL7R):c.437_438del (p.Phe146fs) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000792594] ChrX:130149477 [GRCh38]
ChrX:129283452 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.1758A>C (p.Pro586=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000919386] ChrX:130129982 [GRCh38]
ChrX:129263957 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly) single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856716] ChrX:130140604 [GRCh38]
ChrX:129274579 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys) inversion Charcot-Marie-Tooth Neuropathy X [RCV000862194]|Charcot-Marie-Tooth disease [RCV001173136] ChrX:130149544..130149545 [GRCh38]
ChrX:129283519..129283520 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.250-5C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001475456]|not provided [RCV000873644] ChrX:130149573 [GRCh38]
ChrX:129283548 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.697-44T>G single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV000856719] ChrX:130140661 [GRCh38]
ChrX:129274636 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000797426] ChrX:130130030 [GRCh38]
ChrX:129264005 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.250-118A>G single nucleotide variant not provided [RCV000836117] ChrX:130149686 [GRCh38]
ChrX:129283661 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000811082] ChrX:130138667 [GRCh38]
ChrX:129272642 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1075+4G>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000793401] ChrX:130137074 [GRCh38]
ChrX:129271049 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.605+262T>G single nucleotide variant not provided [RCV000832345] ChrX:130147231 [GRCh38]
ChrX:129281206 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.350C>T (p.Ala117Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000801623] ChrX:130147876 [GRCh38]
ChrX:129281851 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.967+127T>C single nucleotide variant not provided [RCV000834873] ChrX:130138466 [GRCh38]
ChrX:129272441 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1094C>G (p.Pro365Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000814995] ChrX:130136713 [GRCh38]
ChrX:129270688 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000795040] ChrX:130137147 [GRCh38]
ChrX:129271122 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.250-9G>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001419716]|not provided [RCV000870057] ChrX:130149577 [GRCh38]
ChrX:129283552 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.782-124C>T single nucleotide variant not provided [RCV000837959] ChrX:130139995 [GRCh38]
ChrX:129273970 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000797319] ChrX:130156472 [GRCh38]
ChrX:129290446 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_004208.4(AIFM1):c.107-177G>A single nucleotide variant not provided [RCV000839760] ChrX:130156780 [GRCh38]
ChrX:129290754 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1771-9C>T single nucleotide variant not provided [RCV000842662] ChrX:130129637 [GRCh38]
ChrX:129263612 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004208.4(AIFM1):c.250-243T>C single nucleotide variant not provided [RCV000837538] ChrX:130149811 [GRCh38]
ChrX:129283786 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1305+240C>G single nucleotide variant not provided [RCV000837539] ChrX:130135805 [GRCh38]
ChrX:129269780 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.646G>A (p.Asp216Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000806645] ChrX:130145529 [GRCh38]
ChrX:129279504 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000796324] ChrX:130130047 [GRCh38]
ChrX:129264022 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.630C>A (p.Phe210Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000802263] ChrX:130145545 [GRCh38]
ChrX:129279520 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1573+256T>C single nucleotide variant not provided [RCV000844021] ChrX:130131419 [GRCh38]
ChrX:129265394 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.967+48G>A single nucleotide variant not provided [RCV000834845] ChrX:130138545 [GRCh38]
ChrX:129272520 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000800712] ChrX:130130146 [GRCh38]
ChrX:129264121 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000817329]|not provided [RCV001507545]|not specified [RCV001199842] ChrX:130156569 [GRCh38]
ChrX:129290543 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.954T>C (p.Ala318=) single nucleotide variant not provided [RCV000876374] ChrX:130138606 [GRCh38]
ChrX:129272581 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_004208.4(AIFM1):c.1045A>G (p.Ser349Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001231423] ChrX:130137108 [GRCh38]
ChrX:129271083 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_004208.4(AIFM1):c.187A>G (p.Lys63Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001221229] ChrX:130156523 [GRCh38]
ChrX:129290497 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.956T>A (p.Leu319His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001243224] ChrX:130138604 [GRCh38]
ChrX:129272579 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu) single nucleotide variant not specified [RCV001199881] ChrX:130130109 [GRCh38]
ChrX:129264084 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001062623]|Combined oxidative phosphorylation deficiency 6 [RCV001166795] ChrX:130149478 [GRCh38]
ChrX:129283453 [GRCh37]
ChrX:Xq26.1
likely benign|uncertain significance
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001168505] ChrX:130156462 [GRCh38]
ChrX:129290436 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.858+13T>G single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166792] ChrX:130139782 [GRCh38]
ChrX:129273757 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.697-4C>T single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166793] ChrX:130140621 [GRCh38]
ChrX:129274596 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001521007]|Combined oxidative phosphorylation deficiency 6 [RCV001166794] ChrX:130147501 [GRCh38]
ChrX:129281476 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.967+325C>T single nucleotide variant not provided [RCV001577498] ChrX:130138268 [GRCh38]
ChrX:129272243 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.781+85A>G single nucleotide variant not provided [RCV001574406] ChrX:130140448 [GRCh38]
ChrX:129274423 [GRCh37]
ChrX:Xq26.1
likely benign
null single nucleotide variant not provided [RCV001619022] ChrX:130156725 [GRCh38]
ChrX:129290699 [GRCh37]
ChrX:Xq26.1
benign
null single nucleotide variant not provided [RCV001596391] ChrX:130138276 [GRCh38]
ChrX:129272251 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.*160A>G single nucleotide variant not provided [RCV001561332] ChrX:130129397 [GRCh38]
ChrX:129263372 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.859-146C>T single nucleotide variant not provided [RCV001561373] ChrX:130138847 [GRCh38]
ChrX:129272822 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.249+1424T>C single nucleotide variant not provided [RCV001556043] ChrX:130155037 [GRCh38]
ChrX:129289012 [GRCh37]
ChrX:Xq26.1
likely benign
null single nucleotide variant not provided [RCV001594243] ChrX:130137346 [GRCh38]
ChrX:129271321 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.968-638C>T single nucleotide variant not provided [RCV001552381] ChrX:130137823 [GRCh38]
ChrX:129271798 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.84G>A (p.Pro28=) single nucleotide variant not provided [RCV000873012] ChrX:130165573 [GRCh38]
ChrX:129299547 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.636C>G (p.Val212=) single nucleotide variant not provided [RCV000910614] ChrX:130145539 [GRCh38]
ChrX:129279514 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000907852] ChrX:130137140 [GRCh38]
ChrX:129271115 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV000907860] ChrX:130140587 [GRCh38]
ChrX:129274562 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_004208.4(AIFM1):c.1448+8T>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000869273] ChrX:130133305 [GRCh38]
ChrX:129267280 [GRCh37]
ChrX:Xq26.1
likely benign
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000972569]|not provided [RCV001638023] ChrX:130149544 [GRCh38]
ChrX:129283519 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1464C>T (p.Pro488=) single nucleotide variant not provided [RCV000953896] ChrX:130131784 [GRCh38]
ChrX:129265759 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1725G>A (p.Gly575=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001474684]|not provided [RCV000938943] ChrX:130130015 [GRCh38]
ChrX:129263990 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.511A>G (p.Met171Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001066988] ChrX:130147587 [GRCh38]
ChrX:129281562 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.370C>A (p.Pro124Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001218816] ChrX:130147856 [GRCh38]
ChrX:129281831 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_004208.4(AIFM1):c.143_145del (p.Leu48del) deletion Charcot-Marie-Tooth Neuropathy X [RCV001207920] ChrX:130156565..130156567 [GRCh38]
ChrX:129290539..129290541 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1669G>T (p.Gly557Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001243677] ChrX:130130071 [GRCh38]
ChrX:129264046 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1483A>G (p.Ile495Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001243674] ChrX:130131765 [GRCh38]
ChrX:129265740 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1633C>T (p.Pro545Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001066132] ChrX:130130107 [GRCh38]
ChrX:129264082 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1707G>A (p.Arg569=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001467545]|not provided [RCV000956346] ChrX:130130033 [GRCh38]
ChrX:129264008 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.967+133T>C single nucleotide variant not provided [RCV001558376] ChrX:130138460 [GRCh38]
ChrX:129272435 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.967+530del deletion not provided [RCV001563552] ChrX:130138063 [GRCh38]
ChrX:129272038 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.967+548T>A single nucleotide variant not provided [RCV001552484] ChrX:130138045 [GRCh38]
ChrX:129272020 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717987] ChrX:130131790 [GRCh38]
ChrX:129265765 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1449-60A>G single nucleotide variant not provided [RCV001546577] ChrX:130131859 [GRCh38]
ChrX:129265834 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.967+326T>G single nucleotide variant not provided [RCV001561148] ChrX:130138267 [GRCh38]
ChrX:129272242 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1448+215A>G single nucleotide variant not provided [RCV001574093] ChrX:130133098 [GRCh38]
ChrX:129267073 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del) microsatellite Combined oxidative phosphorylation deficiency 6 [RCV001535821] ChrX:130136118..130136120 [GRCh38]
ChrX:129270093..129270095 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.*20C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173130] ChrX:130129537 [GRCh38]
ChrX:129263512 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.74T>C (p.Val25Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001064872] ChrX:130165583 [GRCh38]
ChrX:129299557 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001239715]|Charcot-Marie-Tooth disease [RCV001172829] ChrX:130130113 [GRCh38]
ChrX:129264088 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1574-20G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173132] ChrX:130130186 [GRCh38]
ChrX:129264161 [GRCh37]
ChrX:Xq26.1
likely benign
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) microsatellite Cowchock syndrome [RCV001724741] ChrX:130149485..130149490 [GRCh38]
ChrX:129283460..129283465 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173129] ChrX:130147585 [GRCh38]
ChrX:129281560 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173131] ChrX:130129617 [GRCh38]
ChrX:129263592 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.939C>T (p.Ser313=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173135]|not provided [RCV001701296] ChrX:130138621 [GRCh38]
ChrX:129272596 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.249+1258T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173137] ChrX:130155203 [GRCh38]
ChrX:129289178 [GRCh37]
ChrX:Xq26.1
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) deletion not provided [RCV001649223] ChrX:130133631 [GRCh38]
ChrX:129267606 [GRCh37]
ChrX:Xq26.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
null single nucleotide variant not provided [RCV001613635] ChrX:130147963 [GRCh38]
ChrX:129281938 [GRCh37]
ChrX:Xq26.1
benign
NM_004208.4(AIFM1):c.1448+149C>T single nucleotide variant not provided [RCV001547353] ChrX:130133164 [GRCh38]
ChrX:129267139 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1105G>T (p.Val369Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001070075] ChrX:130136702 [GRCh38]
ChrX:129270677 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1660C>T (p.Pro554Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001234213] ChrX:130130080 [GRCh38]
ChrX:129264055 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004208.4(AIFM1):c.1208A>G (p.Asn403Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001232414] ChrX:130136142 [GRCh38]
ChrX:129270117 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1781A>C (p.Asp594Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001219360] ChrX:130129618 [GRCh38]
ChrX:129263593 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.606C>T (p.Ser202=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001204334] ChrX:130145569 [GRCh38]
ChrX:129279544 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1232G>A (p.Gly411Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001207094] ChrX:130136118 [GRCh38]
ChrX:129270093 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1770+12T>C single nucleotide variant Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [RCV001199119] ChrX:130129958 [GRCh38]
ChrX:129263933 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1058T>C (p.Met353Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001046566] ChrX:130137095 [GRCh38]
ChrX:129271070 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1465G>A (p.Asp489Asn) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001208296] ChrX:130131783 [GRCh38]
ChrX:129265758 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.971G>A (p.Arg324Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001035377] ChrX:130137182 [GRCh38]
ChrX:129271157 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001037553] ChrX:130130154 [GRCh38]
ChrX:129264129 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.-90G>C single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001168506] ChrX:130165746 [GRCh38]
ChrX:129299720 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.253T>C (p.Tyr85His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001040714] ChrX:130149565 [GRCh38]
ChrX:129283540 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.968-14T>A single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001166267] ChrX:130137199 [GRCh38]
ChrX:129271174 [GRCh37]
ChrX:Xq26.1
benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001262516] ChrX:130147592 [GRCh38]
ChrX:129281567 [GRCh37]
ChrX:Xq26.1
likely pathogenic
NM_004208.4(AIFM1):c.1805A>G (p.Asn602Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001339309] ChrX:130129594 [GRCh38]
ChrX:129263569 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.147G>C (p.Gln49His) single nucleotide variant Combined oxidative phosphorylation deficiency 6 [RCV001329822] ChrX:130156563 [GRCh38]
ChrX:129290537 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.232G>A (p.Val78Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001324863] ChrX:130156478 [GRCh38]
ChrX:129290452 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.29G>A (p.Gly10Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001341570] ChrX:130165628 [GRCh38]
ChrX:129299602 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001298572] ChrX:130136656 [GRCh38]
ChrX:129270631 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1751G>A (p.Arg584Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001318544] ChrX:130129989 [GRCh38]
ChrX:129263964 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.383C>T (p.Ala128Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001309611] ChrX:130147843 [GRCh38]
ChrX:129281818 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1035C>T (p.Pro345=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001397668] ChrX:130137118 [GRCh38]
ChrX:129271093 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1579G>A (p.Gly527Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001343534] ChrX:130130161 [GRCh38]
ChrX:129264136 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004208.4(AIFM1):c.980G>T (p.Gly327Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001299321] ChrX:130137173 [GRCh38]
ChrX:129271148 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.63G>A (p.Arg21=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001412537] ChrX:130165594 [GRCh38]
ChrX:129299568 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.284A>G (p.Tyr95Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001297632] ChrX:130149534 [GRCh38]
ChrX:129283509 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_004208.4(AIFM1):c.1713A>G (p.Lys571=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001481326] ChrX:130130027 [GRCh38]
ChrX:129264002 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1149G>A (p.Leu383=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001469480] ChrX:130136658 [GRCh38]
ChrX:129270633 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.968-8C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001500708] ChrX:130137193 [GRCh38]
ChrX:129271168 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.642T>C (p.Ala214=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001410597] ChrX:130145533 [GRCh38]
ChrX:129279508 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1137A>G (p.Leu379=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001472954] ChrX:130136670 [GRCh38]
ChrX:129270645 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1680C>T (p.Tyr560=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001480378] ChrX:130130060 [GRCh38]
ChrX:129264035 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.349+257C>T single nucleotide variant not provided [RCV001545713] ChrX:130149212 [GRCh38]
ChrX:129283187 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1593G>A (p.Glu531=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001452838] ChrX:130130147 [GRCh38]
ChrX:129264122 [GRCh37]
ChrX:Xq26.1
likely benign
NM_004208.4(AIFM1):c.1425G>A (p.Pro475=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001438464] ChrX:130133336 [GRCh38]
ChrX:129267311 [GRCh37]
ChrX:Xq26.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8768 AgrOrtholog
COSMIC AIFM1 COSMIC
Ensembl Genes ENSG00000156709 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287295 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000315122 UniProtKB/TrEMBL
  ENSP00000316320 UniProtKB/Swiss-Prot
  ENSP00000402535 UniProtKB/TrEMBL
  ENSP00000431222 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000432998 UniProtKB/TrEMBL
  ENSP00000435955 UniProtKB/Swiss-Prot
  ENSP00000446113 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501693 UniProtKB/TrEMBL
  ENSP00000501724 UniProtKB/TrEMBL
  ENSP00000501772 UniProtKB/TrEMBL
  ENSP00000501880 UniProtKB/TrEMBL
  ENSP00000501890 UniProtKB/TrEMBL
  ENSP00000501907 UniProtKB/TrEMBL
  ENSP00000501950 UniProtKB/TrEMBL
  ENSP00000501985 UniProtKB/TrEMBL
  ENSP00000502068 UniProtKB/TrEMBL
  ENSP00000502124 UniProtKB/Swiss-Prot
  ENSP00000502183 UniProtKB/TrEMBL
  ENSP00000502184 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502606 UniProtKB/Swiss-Prot
  ENSP00000502669 UniProtKB/TrEMBL
  ENSP00000502690 UniProtKB/Swiss-Prot
  ENSP00000502721 UniProtKB/TrEMBL