LITAF (lipopolysaccharide induced TNF factor) - Rat Genome Database

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Gene: LITAF (lipopolysaccharide induced TNF factor) Homo sapiens
Analyze
Symbol: LITAF
Name: lipopolysaccharide induced TNF factor
RGD ID: 735583
HGNC Page HGNC
Description: Exhibits several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; WW domain binding activity; and zinc ion binding activity. Involved in positive regulation of transcription by RNA polymerase II. Localizes to several cellular components, including cytoplasmic side of endosome membrane; cytoplasmic side of lysosomal membrane; and cytoplasmic side of plasma membrane. Implicated in Charcot-Marie-Tooth disease type 1C.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ38636; lipopolysaccharide-induced TNF factor; lipopolysaccharide-induced TNF-alpha factor; lipopolysaccharide-induced tumor necrosis factor-alpha factor; LPS-induced TNF-alpha factor; MGC116698; MGC116700; MGC116701; MGC125274; MGC125275; MGC125276; p53-induced gene 7 protein; PIG7; SIMPLE; small integral membrane protein of lysosome/late endosome; TP53I7; tumor protein p53 inducible protein 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1611,547,722 - 11,636,381 (-)EnsemblGRCh38hg38GRCh38
GRCh381611,547,722 - 11,636,377 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371611,641,578 - 11,681,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361611,549,357 - 11,587,730 (-)NCBINCBI36hg18NCBI36
Build 341611,549,957 - 11,587,730NCBI
Celera1611,813,516 - 11,854,903 (-)NCBI
Cytogenetic Map16p13.13NCBI
HuRef1611,558,982 - 11,598,664 (-)NCBIHuRef
CHM1_11611,641,642 - 11,681,379 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (EXP,ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ellagic acid  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
fenoldopam  (ISO)
finasteride  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
indometacin  (EXP)
isobutanol  (EXP)
isoprenaline  (ISO)
lipopolysaccharide  (EXP)
Mecamylamine  (EXP)
mercury dichloride  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (EXP,ISO)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
oxaliplatin  (ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phosgene  (ISO)
pioglitazone  (EXP)
pirinixic acid  (EXP,ISO)
poly(ethylene)  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
titanium atom  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (EXP)
trovafloxacin  (ISO)
tubocurarine  (EXP)
valproic acid  (EXP,ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

References

Additional References at PubMed
PMID:9305847   PMID:10200294   PMID:11042109   PMID:11274176   PMID:11713717   PMID:12477932   PMID:12525712   PMID:12655064   PMID:12761501   PMID:14641644   PMID:14702039   PMID:15064722  
PMID:15122712   PMID:15197774   PMID:15231748   PMID:15489334   PMID:15776429   PMID:15786462   PMID:15793005   PMID:16118794   PMID:16169070   PMID:16344560   PMID:16373087   PMID:16787513  
PMID:16804395   PMID:16872372   PMID:16912585   PMID:18029348   PMID:18078129   PMID:19170196   PMID:19305408   PMID:19305409   PMID:19322201   PMID:19625176   PMID:19692168   PMID:20301384  
PMID:20301532   PMID:20709679   PMID:20957525   PMID:21217782   PMID:21326863   PMID:21347282   PMID:21362361   PMID:21836606   PMID:21896645   PMID:22282245   PMID:22765307   PMID:23128233  
PMID:23166209   PMID:23166352   PMID:23275563   PMID:23333304   PMID:23576546   PMID:23795761   PMID:23824909   PMID:24554482   PMID:24668782   PMID:24880540   PMID:24952745   PMID:25058650  
PMID:25342198   PMID:25416956   PMID:25910212   PMID:25963657   PMID:26324337   PMID:26573228   PMID:26716897   PMID:27582497   PMID:27764808   PMID:27862672   PMID:27927196   PMID:28164329  
PMID:28211240   PMID:28514442   PMID:29117863   PMID:29845714   PMID:29953492   PMID:30552989   PMID:31098771   PMID:31462068   PMID:31515488   PMID:31586073   PMID:32296183   PMID:32544461  
PMID:32814053   PMID:33109562  


Genomics

Comparative Map Data
LITAF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1611,547,722 - 11,636,381 (-)EnsemblGRCh38hg38GRCh38
GRCh381611,547,722 - 11,636,377 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371611,641,578 - 11,681,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361611,549,357 - 11,587,730 (-)NCBINCBI36hg18NCBI36
Build 341611,549,957 - 11,587,730NCBI
Celera1611,813,516 - 11,854,903 (-)NCBI
Cytogenetic Map16p13.13NCBI
HuRef1611,558,982 - 11,598,664 (-)NCBIHuRef
CHM1_11611,641,642 - 11,681,379 (-)NCBICHM1_1
Litaf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391610,777,137 - 10,810,985 (-)NCBIGRCm39mm39
GRCm39 Ensembl1610,777,139 - 10,884,021 (-)Ensembl
GRCm381610,959,273 - 10,993,121 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1610,959,275 - 11,066,157 (-)EnsemblGRCm38mm10GRCm38
MGSCv371610,959,366 - 10,993,214 (-)NCBIGRCm37mm9NCBIm37
MGSCv361610,872,852 - 10,880,228 (-)NCBImm8
Celera1611,588,622 - 11,622,564 (-)NCBICelera
Cytogenetic Map16A1NCBI
Litaf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2104,656,308 - 4,692,981 (+)NCBI
Rnor_6.0 Ensembl104,719,713 - 4,763,510 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0104,753,546 - 4,763,272 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0103,580,243 - 3,589,969 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4104,614,177 - 4,623,903 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1104,587,486 - 4,623,903 (+)NCBI
Celera103,704,946 - 3,714,672 (+)NCBICelera
Cytogenetic Map10q11NCBI
Litaf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554427,077,823 - 7,083,437 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554427,054,418 - 7,084,973 (+)NCBIChiLan1.0ChiLan1.0
LITAF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11611,714,325 - 11,753,902 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1611,714,325 - 11,750,521 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01610,488,738 - 10,527,843 (-)NCBIMhudiblu_PPA_v0panPan3
LITAF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1631,229,153 - 31,259,670 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha632,609,055 - 32,637,581 (+)NCBI
ROS_Cfam_1.0631,407,890 - 31,436,572 (+)NCBI
UMICH_Zoey_3.1631,221,767 - 31,250,391 (+)NCBI
UNSW_CanFamBas_1.0631,095,973 - 31,124,591 (+)NCBI
UU_Cfam_GSD_1.0631,519,895 - 31,548,477 (+)NCBI
Litaf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344111,563,943 - 111,567,545 (-)NCBI
SpeTri2.0NW_0049365309,409,378 - 9,421,974 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LITAF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl331,482,353 - 31,579,082 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1331,482,605 - 31,576,211 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2332,319,463 - 32,363,158 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LITAF
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1511,023,158 - 11,099,133 (-)NCBI
ChlSab1.1 Ensembl511,021,717 - 11,059,149 (-)Ensembl
Litaf
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247826,715,584 - 6,748,873 (+)NCBI

Position Markers
D16S764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371618,253,277 - 18,253,363UniSTSGRCh37
GRCh371616,646,811 - 16,646,917UniSTSGRCh37
Build 361616,554,312 - 16,554,418RGDNCBI36
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map16p13UniSTS
HuRef1617,195,725 - 17,195,811UniSTS
Marshfield Genetic Map1629.97RGD
Marshfield Genetic Map1629.97UniSTS
TNG Radiation Hybrid Map1610323.0UniSTS
deCODE Assembly Map1636.22UniSTS
Stanford-G3 RH Map16789.0UniSTS
Whitehead-RH Map1674.0UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16152.4UniSTS
D16S519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,286,326 - 11,286,478UniSTSGRCh37
Build 361611,193,827 - 11,193,979RGDNCBI36
Celera1611,455,765 - 11,455,901RGD
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map16p13UniSTS
HuRef1611,204,174 - 11,204,310UniSTS
Marshfield Genetic Map1620.77UniSTS
Marshfield Genetic Map1620.77RGD
Genethon Genetic Map1619.7UniSTS
deCODE Assembly Map1628.3UniSTS
Whitehead-YAC Contig Map16 UniSTS
G62064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,642,143 - 11,642,318UniSTSGRCh37
Build 361611,549,644 - 11,549,819RGDNCBI36
Celera1611,814,081 - 11,814,256RGD
Cytogenetic Map16p13.13UniSTS
HuRef1611,559,547 - 11,559,722UniSTS
D16S2671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,641,866 - 11,641,928UniSTSGRCh37
Build 361611,549,367 - 11,549,429RGDNCBI36
Celera1611,813,804 - 11,813,866RGD
Cytogenetic Map16p13.13UniSTS
HuRef1611,559,270 - 11,559,332UniSTS
RH70306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,641,630 - 11,641,811UniSTSGRCh37
Build 361611,549,131 - 11,549,312RGDNCBI36
Celera1611,813,568 - 11,813,749RGD
Cytogenetic Map16p13.13UniSTS
HuRef1611,559,034 - 11,559,215UniSTS
GeneMap99-GB4 RH Map16164.37UniSTS
SHGC-61147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,642,471 - 11,642,727UniSTSGRCh37
Build 361611,549,972 - 11,550,228RGDNCBI36
Celera1611,814,409 - 11,814,665RGD
Cytogenetic Map16p13.13UniSTS
HuRef1611,559,807 - 11,560,062UniSTS
GeneMap99-GB4 RH Map16101.01UniSTS
NCBI RH Map16125.4UniSTS
D16S3304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371611,642,003 - 11,642,127UniSTSGRCh37
Build 361611,549,504 - 11,549,628RGDNCBI36
Celera1611,813,941 - 11,814,065RGD
Cytogenetic Map16p13.13UniSTS
HuRef1611,559,407 - 11,559,531UniSTS
TNG Radiation Hybrid Map165804.0UniSTS
Stanford-G3 RH Map16569.0UniSTS
NCBI RH Map16123.8UniSTS
GeneMap99-G3 RH Map16529.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7232
Count of miRNA genes:1118
Interacting mature miRNAs:1374
Transcripts:ENST00000339430, ENST00000381810, ENST00000413364, ENST00000570798, ENST00000570904, ENST00000571277, ENST00000571459, ENST00000571627, ENST00000571688, ENST00000571976, ENST00000572255, ENST00000573332, ENST00000574701, ENST00000574703, ENST00000574763, ENST00000574848, ENST00000575426, ENST00000576036, ENST00000576334
Prediction methods:Microtar, Miranda, 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 22 22 1
Medium 2420 2791 1693 605 1889 447 4008 1665 2713 414 1146 1602 174 1 1204 2440 6 2
Low 14 178 32 19 33 18 348 531 1018 4 312 9 1 348
Below cutoff 4 1 7 1 3 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA625937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB034747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB074031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF010312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI858484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA955452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339430   ⟹   ENSP00000340118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,548,000 - 11,586,373 (-)Ensembl
RefSeq Acc Id: ENST00000381810   ⟹   ENSP00000371231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,548,603 - 11,556,736 (-)Ensembl
RefSeq Acc Id: ENST00000413364   ⟹   ENSP00000397958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,547,999 - 11,586,950 (-)Ensembl
RefSeq Acc Id: ENST00000570798   ⟹   ENSP00000458871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,711 - 11,586,918 (-)Ensembl
RefSeq Acc Id: ENST00000570904   ⟹   ENSP00000459138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,107 - 11,587,247 (-)Ensembl
RefSeq Acc Id: ENST00000571277   ⟹   ENSP00000459026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,556,612 - 11,586,919 (-)Ensembl
RefSeq Acc Id: ENST00000571459   ⟹   ENSP00000459603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,312 - 11,586,903 (-)Ensembl
RefSeq Acc Id: ENST00000571627   ⟹   ENSP00000460743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,662 - 11,598,500 (-)Ensembl
RefSeq Acc Id: ENST00000571688   ⟹   ENSP00000459533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,547,722 - 11,587,563 (-)Ensembl
RefSeq Acc Id: ENST00000571976   ⟹   ENSP00000460133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,553,423 - 11,586,941 (-)Ensembl
RefSeq Acc Id: ENST00000572255   ⟹   ENSP00000458836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,602 - 11,586,919 (-)Ensembl
RefSeq Acc Id: ENST00000573332   ⟹   ENSP00000460873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,448 - 11,586,919 (-)Ensembl
RefSeq Acc Id: ENST00000574701   ⟹   ENSP00000458981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,551,773 - 11,587,289 (-)Ensembl
RefSeq Acc Id: ENST00000574703   ⟹   ENSP00000459913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,556,284 - 11,586,919 (-)Ensembl
RefSeq Acc Id: ENST00000574763   ⟹   ENSP00000461813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,626 - 11,586,919 (-)Ensembl
RefSeq Acc Id: ENST00000574848   ⟹   ENSP00000459898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,556,557 - 11,636,381 (-)Ensembl
RefSeq Acc Id: ENST00000575426   ⟹   ENSP00000459094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,360 - 11,556,444 (-)Ensembl
RefSeq Acc Id: ENST00000576036   ⟹   ENSP00000461667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,549,613 - 11,629,210 (-)Ensembl
RefSeq Acc Id: ENST00000576334   ⟹   ENSP00000458538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,556,722 - 11,636,377 (-)Ensembl
RefSeq Acc Id: ENST00000620789   ⟹   ENSP00000481589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,551,723 - 11,586,373 (-)Ensembl
RefSeq Acc Id: ENST00000622633   ⟹   ENSP00000483114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1611,547,726 - 11,586,950 (-)Ensembl
RefSeq Acc Id: NM_001136472   ⟹   NP_001129944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,722 - 11,586,919 (-)NCBI
GRCh371611,641,578 - 11,681,322 (-)ENTREZGENE
HuRef1611,558,982 - 11,598,664 (-)ENTREZGENE
CHM1_11611,641,642 - 11,680,863 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136473   ⟹   NP_001129945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,722 - 11,586,950 (-)NCBI
GRCh371611,641,578 - 11,681,322 (-)ENTREZGENE
HuRef1611,558,982 - 11,598,664 (-)ENTREZGENE
CHM1_11611,641,642 - 11,680,863 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004862   ⟹   NP_004853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,722 - 11,586,211 (-)NCBI
GRCh371611,641,578 - 11,681,322 (-)ENTREZGENE
Build 361611,549,357 - 11,587,730 (-)NCBI Archive
HuRef1611,558,982 - 11,598,664 (-)ENTREZGENE
CHM1_11611,641,642 - 11,680,286 (-)NCBI
Sequence:
RefSeq Acc Id: NR_024320
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,722 - 11,587,466 (-)NCBI
GRCh371611,641,578 - 11,681,322 (-)ENTREZGENE
HuRef1611,558,982 - 11,598,664 (-)ENTREZGENE
CHM1_11611,641,642 - 11,681,379 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720982   ⟹   XP_006721045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,992 - 11,587,289 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720983   ⟹   XP_006721046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,992 - 11,561,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720984   ⟹   XP_006721047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,992 - 11,575,581 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720985   ⟹   XP_006721048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,992 - 11,584,332 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522754   ⟹   XP_011521056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,990 - 11,636,377 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023896   ⟹   XP_016879385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,547,992 - 11,629,210 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129944 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129945 (Get FASTA)   NCBI Sequence Viewer  
  NP_004853 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721045 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721046 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721047 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721048 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521056 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879385 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB36550 (Get FASTA)   NCBI Sequence Viewer  
  AAC39530 (Get FASTA)   NCBI Sequence Viewer  
  AAH00053 (Get FASTA)   NCBI Sequence Viewer  
  AAH08309 (Get FASTA)   NCBI Sequence Viewer  
  AAH16491 (Get FASTA)   NCBI Sequence Viewer  
  AAH39840 (Get FASTA)   NCBI Sequence Viewer  
  AAH46154 (Get FASTA)   NCBI Sequence Viewer  
  AAH96063 (Get FASTA)   NCBI Sequence Viewer  
  AAH96065 (Get FASTA)   NCBI Sequence Viewer  
  AAH96066 (Get FASTA)   NCBI Sequence Viewer  
  AAI01402 (Get FASTA)   NCBI Sequence Viewer  
  AAI01403 (Get FASTA)   NCBI Sequence Viewer  
  AAI01970 (Get FASTA)   NCBI Sequence Viewer  
  BAB32547 (Get FASTA)   NCBI Sequence Viewer  
  CAD97778 (Get FASTA)   NCBI Sequence Viewer  
  EAW85148 (Get FASTA)   NCBI Sequence Viewer  
  EAW85149 (Get FASTA)   NCBI Sequence Viewer  
  EAW85150 (Get FASTA)   NCBI Sequence Viewer  
  EAW85151 (Get FASTA)   NCBI Sequence Viewer  
  EAW85152 (Get FASTA)   NCBI Sequence Viewer  
  EAW85153 (Get FASTA)   NCBI Sequence Viewer  
  Q99732 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001129944   ⟸   NM_001136472
- Peptide Label: isoform 1
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129945   ⟸   NM_001136473
- Peptide Label: isoform 2
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004853   ⟸   NM_004862
- Peptide Label: isoform 1
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721045   ⟸   XM_006720982
- Peptide Label: isoform X2
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721048   ⟸   XM_006720985
- Peptide Label: isoform X2
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721047   ⟸   XM_006720984
- Peptide Label: isoform X2
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721046   ⟸   XM_006720983
- Peptide Label: isoform X2
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521056   ⟸   XM_011522754
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016879385   ⟸   XM_017023896
- Peptide Label: isoform X2
- UniProtKB: Q99732 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000481589   ⟸   ENST00000620789
RefSeq Acc Id: ENSP00000483114   ⟸   ENST00000622633
RefSeq Acc Id: ENSP00000397958   ⟸   ENST00000413364
RefSeq Acc Id: ENSP00000458871   ⟸   ENST00000570798
RefSeq Acc Id: ENSP00000459138   ⟸   ENST00000570904
RefSeq Acc Id: ENSP00000459026   ⟸   ENST00000571277
RefSeq Acc Id: ENSP00000460743   ⟸   ENST00000571627
RefSeq Acc Id: ENSP00000459533   ⟸   ENST00000571688
RefSeq Acc Id: ENSP00000459603   ⟸   ENST00000571459
RefSeq Acc Id: ENSP00000460133   ⟸   ENST00000571976
RefSeq Acc Id: ENSP00000458836   ⟸   ENST00000572255
RefSeq Acc Id: ENSP00000460873   ⟸   ENST00000573332
RefSeq Acc Id: ENSP00000459898   ⟸   ENST00000574848
RefSeq Acc Id: ENSP00000459913   ⟸   ENST00000574703
RefSeq Acc Id: ENSP00000458981   ⟸   ENST00000574701
RefSeq Acc Id: ENSP00000461813   ⟸   ENST00000574763
RefSeq Acc Id: ENSP00000340118   ⟸   ENST00000339430
RefSeq Acc Id: ENSP00000459094   ⟸   ENST00000575426
RefSeq Acc Id: ENSP00000461667   ⟸   ENST00000576036
RefSeq Acc Id: ENSP00000458538   ⟸   ENST00000576334
RefSeq Acc Id: ENSP00000371231   ⟸   ENST00000381810
Protein Domains
LITAF

Promoters
RGD ID:7231341
Promoter ID:EPDNEW_H21416
Type:initiation region
Name:LITAF_1
Description:lipopolysaccharide induced TNF factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21417  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,586,919 - 11,586,979EPDNEW
RGD ID:7231343
Promoter ID:EPDNEW_H21417
Type:initiation region
Name:LITAF_2
Description:lipopolysaccharide induced TNF factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21416  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381611,587,182 - 11,587,242EPDNEW
RGD ID:6793243
Promoter ID:HG_KWN:23045
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004862
Position:
Human AssemblyChrPosition (strand)Source
Build 361611,587,259 - 11,587,759 (-)MPROMDB
RGD ID:6793242
Promoter ID:HG_KWN:23046
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381810,   NM_001136472,   NM_001136473,   NR_024320,   UC002DBC.1,   UC002DBE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361611,588,296 - 11,588,992 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000550230] Chr16:11556623 [GRCh38]
Chr16:11650479 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173620]|Charcot-Marie-Tooth disease, type 1C [RCV000006429]|not provided [RCV000235719] Chr16:11553576 [GRCh38]
Chr16:11647432 [GRCh37]
Chr16:16p13.13
pathogenic
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000006430]|not provided [RCV000991836] Chr16:11553566 [GRCh38]
Chr16:11647422 [GRCh37]
Chr16:16p13.13
pathogenic|likely pathogenic
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000006431] Chr16:11553564 [GRCh38]
Chr16:11647420 [GRCh37]
Chr16:16p13.13
pathogenic
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000006432] Chr16:11553546 [GRCh38]
Chr16:11647402 [GRCh37]
Chr16:16p13.13
pathogenic
NM_001136473.1(LITAF):c.*69G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173626]|Charcot-Marie-Tooth disease, type 1C [RCV000006433] Chr16:11549693 [GRCh38]
Chr16:11643549 [GRCh37]
Chr16:16p13.13
pathogenic|uncertain significance
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789997]|Charcot-Marie-Tooth disease, type 1C [RCV000034128] Chr16:11553578 [GRCh38]
Chr16:11647434 [GRCh37]
Chr16:16p13.13
pathogenic|uncertain significance
NM_001136473.1(LITAF):c.*42C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000789996]|Charcot-Marie-Tooth disease, type 1C [RCV000034129] Chr16:11549720 [GRCh38]
Chr16:11643576 [GRCh37]
Chr16:16p13.13
pathogenic|uncertain significance
NM_001136473.1(LITAF):c.*42C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000789998]|Charcot-Marie-Tooth disease, type 1C [RCV000034130] Chr16:11549720 [GRCh38]
Chr16:11643576 [GRCh37]
Chr16:16p13.13
pathogenic|uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh38/hg38 16p13.13(chr16:11606013-11651720)x3 copy number gain See cases [RCV000141273] Chr16:11606013..11651720 [GRCh38]
Chr16:11699869..11745576 [GRCh37]
Chr16:11607370..11653077 [NCBI36]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*24G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000789061]|Charcot-Marie-Tooth disease, type 1C [RCV000192669] Chr16:11549738 [GRCh38]
Chr16:11643594 [GRCh37]
Chr16:16p13.13
pathogenic|uncertain significance
NM_001136473.1(LITAF):c.*43C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000789995]|Charcot-Marie-Tooth disease, type 1C [RCV000193485] Chr16:11549719 [GRCh38]
Chr16:11643575 [GRCh37]
Chr16:16p13.13
pathogenic|uncertain significance
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174234]|Charcot-Marie-Tooth disease, type 1C [RCV000195793] Chr16:11556725 [GRCh38]
Chr16:11650581 [GRCh37]
Chr16:16p13.13
benign|likely benign|uncertain significance
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000196362]|not specified [RCV000516462] Chr16:11553670 [GRCh38]
Chr16:11647526 [GRCh37]
Chr16:16p13.13
pathogenic|likely benign
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789999]|Charcot-Marie-Tooth disease, type 1C [RCV000198589]|not specified [RCV000235771] Chr16:11556585 [GRCh38]
Chr16:11650441 [GRCh37]
Chr16:16p13.13
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.13(chr16:11173868-11681288)x3 copy number gain See cases [RCV000240209] Chr16:11173868..11681288 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174236]|Charcot-Marie-Tooth disease, type 1C [RCV001001631] Chr16:11553676 [GRCh38]
Chr16:11647532 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174238]|Charcot-Marie-Tooth disease, type 1C [RCV000206100]|not specified [RCV000429066] Chr16:11553580 [GRCh38]
Chr16:11647436 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174237]|Charcot-Marie-Tooth disease, type 1C [RCV000203844]|not specified [RCV000439217] Chr16:11553577 [GRCh38]
Chr16:11647433 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*118G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174230]|Charcot-Marie-Tooth disease, type 1C [RCV000204018]|not provided [RCV000235954] Chr16:11549644 [GRCh38]
Chr16:11643500 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000230506] Chr16:11556616 [GRCh38]
Chr16:11650472 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*27G>A single nucleotide variant not provided [RCV000235675] Chr16:11549735 [GRCh38]
Chr16:11643591 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV000236418] Chr16:11553659 [GRCh38]
Chr16:11647515 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*117C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173621]|Charcot-Marie-Tooth disease, type 1C [RCV001218448]|not provided [RCV000236601] Chr16:11549645 [GRCh38]
Chr16:11643501 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000236637] Chr16:11556728 [GRCh38]
Chr16:11650584 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000527717]|not specified [RCV000601183] Chr16:11556677 [GRCh38]
Chr16:11650533 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*836G>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000300820] Chr16:11548926 [GRCh38]
Chr16:11642782 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*1540C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000321665] Chr16:11548222 [GRCh38]
Chr16:11642078 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*1618T>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000285266] Chr16:11548144 [GRCh38]
Chr16:11642000 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.-6+681dup duplication Charcot-Marie-Tooth disease, type I [RCV000270957] Chr16:11586204..11586205 [GRCh38]
Chr16:11680060..11680061 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*1029G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000289345] Chr16:11548733 [GRCh38]
Chr16:11642589 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*162G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000351882] Chr16:11549600 [GRCh38]
Chr16:11643456 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000271680]|not specified [RCV000506296] Chr16:11556631 [GRCh38]
Chr16:11650487 [GRCh37]
Chr16:16p13.13
likely pathogenic|uncertain significance
NM_001136473.1(LITAF):c.*1995C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000355283] Chr16:11547767 [GRCh38]
Chr16:11641623 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*224C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000381894] Chr16:11549538 [GRCh38]
Chr16:11643394 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.-6+558C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000274462] Chr16:11586328 [GRCh38]
Chr16:11680184 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.377+13C>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000293605]|not specified [RCV000435526] Chr16:11553520 [GRCh38]
Chr16:11647376 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001039401] Chr16:11556584 [GRCh38]
Chr16:11650440 [GRCh37]
Chr16:16p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001136473.1(LITAF):c.*193G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000294703] Chr16:11549569 [GRCh38]
Chr16:11643425 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*1978A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000260395] Chr16:11547784 [GRCh38]
Chr16:11641640 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
NM_001136473.1(LITAF):c.*723G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000260938] Chr16:11549039 [GRCh38]
Chr16:11642895 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001089044]|not provided [RCV000840933] Chr16:11553669 [GRCh38]
Chr16:11647525 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
NM_001136473.1(LITAF):c.*564G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000264433] Chr16:11549198 [GRCh38]
Chr16:11643054 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*546C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000321835] Chr16:11549216 [GRCh38]
Chr16:11643072 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*268C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000324928] Chr16:11549494 [GRCh38]
Chr16:11643350 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*318G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000272322] Chr16:11549444 [GRCh38]
Chr16:11643300 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*707dup duplication Charcot-Marie-Tooth disease, type I [RCV000304204] Chr16:11549054..11549055 [GRCh38]
Chr16:11642910..11642911 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.*921T>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000350043] Chr16:11548841 [GRCh38]
Chr16:11642697 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790000]|Charcot-Marie-Tooth disease, type 1C [RCV000576745]|not specified [RCV000595000] Chr16:11553636 [GRCh38]
Chr16:11647492 [GRCh37]
Chr16:16p13.13
benign|uncertain significance
NM_001136473.1(LITAF):c.*1058C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000399143] Chr16:11548704 [GRCh38]
Chr16:11642560 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*1007G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000351266] Chr16:11548755 [GRCh38]
Chr16:11642611 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1376A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000376300] Chr16:11548386 [GRCh38]
Chr16:11642242 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.-6+539G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000331822] Chr16:11586347 [GRCh38]
Chr16:11680203 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*811C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000353457] Chr16:11548951 [GRCh38]
Chr16:11642807 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000816653] Chr16:11556643 [GRCh38]
Chr16:11650499 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*941T>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000311514] Chr16:11548821 [GRCh38]
Chr16:11642677 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.-6+657C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000333071] Chr16:11586229 [GRCh38]
Chr16:11680085 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*941dup duplication Charcot-Marie-Tooth disease, type I [RCV000401163] Chr16:11548820..11548821 [GRCh38]
Chr16:11642676..11642677 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*25C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000385548] Chr16:11549737 [GRCh38]
Chr16:11643593 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1752G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000315643] Chr16:11548010 [GRCh38]
Chr16:11641866 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*578C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000361277] Chr16:11549184 [GRCh38]
Chr16:11643040 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173623]|Charcot-Marie-Tooth disease, type 1C [RCV000549466] Chr16:11556687 [GRCh38]
Chr16:11650543 [GRCh37]
Chr16:16p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001136473.1(LITAF):c.-6+594A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000389695] Chr16:11586292 [GRCh38]
Chr16:11680148 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.*1295A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000291270] Chr16:11548467 [GRCh38]
Chr16:11642323 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000302266] Chr16:11556573 [GRCh38]
Chr16:11650429 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.159G>A (p.Gly53=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000399147] Chr16:11556572 [GRCh38]
Chr16:11650428 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1074A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000346236] Chr16:11548688 [GRCh38]
Chr16:11642544 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*419A>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000383090] Chr16:11549343 [GRCh38]
Chr16:11643199 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*848A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000408123] Chr16:11548914 [GRCh38]
Chr16:11642770 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.-6+526_-6+527insT insertion Charcot-Marie-Tooth disease, type I [RCV000374755] Chr16:11586359..11586360 [GRCh38]
Chr16:11680215..11680216 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1682C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000379736] Chr16:11548080 [GRCh38]
Chr16:11641936 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000528512] Chr16:11556526 [GRCh38]
Chr16:11650382 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000639574] Chr16:11556680 [GRCh38]
Chr16:11650536 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001054236]|not provided [RCV000522098] Chr16:11556522 [GRCh38]
Chr16:11650378 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001136473.1(LITAF):c.*47C>A single nucleotide variant not provided [RCV000425120] Chr16:11549715 [GRCh38]
Chr16:11643571 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.45A>G (p.Ser15=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000868789]|not specified [RCV000425900] Chr16:11556686 [GRCh38]
Chr16:11650542 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173622]|Charcot-Marie-Tooth disease, type 1C [RCV000463036]|not provided [RCV000829946] Chr16:11553608 [GRCh38]
Chr16:11647464 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000475570] Chr16:11556580 [GRCh38]
Chr16:11650436 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.352T>C (p.Ser118Pro) single nucleotide variant not provided [RCV000480959] Chr16:11553558 [GRCh38]
Chr16:11647414 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*96G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000469544]|not provided [RCV000481674] Chr16:11549666 [GRCh38]
Chr16:11643522 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3 copy number gain See cases [RCV000511571] Chr16:9631472..12128275 [GRCh37]
Chr16:16p13.2-13.13
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000534683]|not provided [RCV000585148] Chr16:11553684 [GRCh38]
Chr16:11647540 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000639572] Chr16:11553684 [GRCh38]
Chr16:11647540 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000639573] Chr16:11556646 [GRCh38]
Chr16:11650502 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001083039]|not provided [RCV000711268] Chr16:11556704 [GRCh38]
Chr16:11650560 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.*68C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000794473]|not provided [RCV000658740] Chr16:11549694 [GRCh38]
Chr16:11643550 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*27G>T single nucleotide variant not provided [RCV000658741] Chr16:11549735 [GRCh38]
Chr16:11643591 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3 copy number gain not provided [RCV000683759] Chr16:10529891..11889585 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*57G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000698494]|not provided [RCV000996211] Chr16:11549705 [GRCh38]
Chr16:11643561 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000706761] Chr16:11553570 [GRCh38]
Chr16:11647426 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*49G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000706957] Chr16:11549713 [GRCh38]
Chr16:11643569 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000705486] Chr16:11553638 [GRCh38]
Chr16:11647494 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000694401] Chr16:11556706 [GRCh38]
Chr16:11650562 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
NC_000016.9:g.(?_11643473)_(11650606_?)dup duplication Charcot-Marie-Tooth disease, type 1C [RCV000708360] Chr16:11549617..11556750 [GRCh38]
Chr16:11643473..11650606 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000700911] Chr16:11556552 [GRCh38]
Chr16:11650408 [GRCh37]
Chr16:16p13.13
likely benign|uncertain significance
NM_001136473.1(LITAF):c.*17-3C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000693234] Chr16:11549748 [GRCh38]
Chr16:11643604 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.135G>A (p.Thr45=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000696076] Chr16:11556596 [GRCh38]
Chr16:11650452 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
Single allele duplication Schizophrenia [RCV000754168] Chr16:11369400..13577493 [GRCh38]
Chr16:16p13.13-13.12
likely pathogenic
GRCh37/hg19 16p13.13(chr16:11458800-11707291)x1 copy number loss not provided [RCV000739054] Chr16:11458800..11707291 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.28G>T (p.Ala10Ser) single nucleotide variant not provided [RCV000762206] Chr16:11556703 [GRCh38]
Chr16:11650559 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1511G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001117334] Chr16:11548251 [GRCh38]
Chr16:11642107 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1489A>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001117335] Chr16:11548273 [GRCh38]
Chr16:11642129 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1342A>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001117336] Chr16:11548420 [GRCh38]
Chr16:11642276 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*2004A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001115877] Chr16:11547758 [GRCh38]
Chr16:11641614 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1757C>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001115878] Chr16:11548005 [GRCh38]
Chr16:11641861 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.*1561T>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001115879] Chr16:11548201 [GRCh38]
Chr16:11642057 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.39T>G (p.Pro13=) single nucleotide variant not provided [RCV000943955] Chr16:11556692 [GRCh38]
Chr16:11650548 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*263G>C single nucleotide variant Distal spinal muscular atrophy [RCV000856996] Chr16:11549499 [GRCh38]
Chr16:11643355 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*241C>A single nucleotide variant Distal spinal muscular atrophy [RCV000856997] Chr16:11549521 [GRCh38]
Chr16:11643377 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*17-48C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000857002] Chr16:11549793 [GRCh38]
Chr16:11643649 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857007] Chr16:11556645 [GRCh38]
Chr16:11650501 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.96T>C (p.Tyr32=) single nucleotide variant not provided [RCV000869412] Chr16:11556635 [GRCh38]
Chr16:11650491 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*50C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000870440] Chr16:11549712 [GRCh38]
Chr16:11643568 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.351G>C (p.Leu117=) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000865742] Chr16:11553559 [GRCh38]
Chr16:11647415 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*69G>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001057122] Chr16:11549693 [GRCh38]
Chr16:11643549 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136472.2(LITAF):c.377+1859dup duplication not provided [RCV000843236] Chr16:11551664..11551665 [GRCh38]
Chr16:11645520..11645521 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.222T>C (p.Ile74=) single nucleotide variant not specified [RCV000790250] Chr16:11553688 [GRCh38]
Chr16:11647544 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*116G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000857000]|Charcot-Marie-Tooth disease, type 1C [RCV001115989]|not specified [RCV000790251] Chr16:11549646 [GRCh38]
Chr16:11643502 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.198G>A (p.Ala66=) single nucleotide variant not provided [RCV000863920] Chr16:11556533 [GRCh38]
Chr16:11650389 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly) inversion Charcot-Marie-Tooth disease [RCV000857003]|Charcot-Marie-Tooth disease, type I [RCV000857004] Chr16:11551770..11551773 [GRCh38]
Chr16:11645626..11645629 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.369C>T (p.Cys123=) single nucleotide variant not provided [RCV000876782] Chr16:11553541 [GRCh38]
Chr16:11647397 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.378-44_378-41dup duplication not provided [RCV000831841] Chr16:11551844..11551845 [GRCh38]
Chr16:11645700..11645701 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.377+279T>G single nucleotide variant not provided [RCV000831002] Chr16:11553254 [GRCh38]
Chr16:11647110 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.17-295C>T single nucleotide variant not provided [RCV000831003] Chr16:11550040 [GRCh38]
Chr16:11643896 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000810352] Chr16:11553674 [GRCh38]
Chr16:11647530 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000803579] Chr16:11553600 [GRCh38]
Chr16:11647456 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.-5-296G>A single nucleotide variant not provided [RCV000844264] Chr16:11557031 [GRCh38]
Chr16:11650887 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.331_332dup (p.Gly112fs) duplication Distal spinal muscular atrophy [RCV000857005] Chr16:11553577..11553578 [GRCh38]
Chr16:11647433..11647434 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.302del (p.Lys101fs) deletion Charcot-Marie-Tooth disease, type I [RCV000857006] Chr16:11553608 [GRCh38]
Chr16:11647464 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027505]|Charcot-Marie-Tooth disease, type 1C [RCV000792008]|not provided [RCV000996213] Chr16:11553579 [GRCh38]
Chr16:11647435 [GRCh37]
Chr16:16p13.13
pathogenic|likely pathogenic|uncertain significance
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000823665] Chr16:11553539 [GRCh38]
Chr16:11647395 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000814105] Chr16:11553687 [GRCh38]
Chr16:11647543 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.378-294C>T single nucleotide variant not provided [RCV000832733] Chr16:11552098 [GRCh38]
Chr16:11645954 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.378-69G>A single nucleotide variant not provided [RCV000836815] Chr16:11551873 [GRCh38]
Chr16:11645729 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.378-43_378-42insACTC insertion not provided [RCV000836816] Chr16:11551846..11551847 [GRCh38]
Chr16:11645702..11645703 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.409C>T (p.Arg137Cys) single nucleotide variant not provided [RCV000836817] Chr16:11551773 [GRCh38]
Chr16:11645629 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.412A>G (p.Ser138Gly) single nucleotide variant not provided [RCV000836818] Chr16:11551770 [GRCh38]
Chr16:11645626 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.220+42C>T single nucleotide variant not provided [RCV000843207] Chr16:11556469 [GRCh38]
Chr16:11650325 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.16+43G>T single nucleotide variant not provided [RCV000843208] Chr16:11551664 [GRCh38]
Chr16:11645520 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.*107C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000805820] Chr16:11549655 [GRCh38]
Chr16:11643511 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*51G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174231]|Charcot-Marie-Tooth disease, type 1C [RCV000793835] Chr16:11549711 [GRCh38]
Chr16:11643567 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000795892] Chr16:11553671 [GRCh38]
Chr16:11647527 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.17-255C>T single nucleotide variant not provided [RCV000831004] Chr16:11550000 [GRCh38]
Chr16:11643856 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.220+310A>G single nucleotide variant not provided [RCV000844278] Chr16:11556201 [GRCh38]
Chr16:11650057 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.378-274A>G single nucleotide variant not provided [RCV000844280] Chr16:11552078 [GRCh38]
Chr16:11645934 [GRCh37]
Chr16:16p13.13
benign
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173625]|Charcot-Marie-Tooth disease, type 1C [RCV000794470] Chr16:11553642 [GRCh38]
Chr16:11647498 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*63C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000813243] Chr16:11549699 [GRCh38]
Chr16:11643555 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*43C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000823010] Chr16:11549719 [GRCh38]
Chr16:11643575 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.378-13C>T single nucleotide variant not provided [RCV000841777] Chr16:11551817 [GRCh38]
Chr16:11645673 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174235]|Charcot-Marie-Tooth disease, type 1C [RCV000862003] Chr16:11553553 [GRCh38]
Chr16:11647409 [GRCh37]
Chr16:16p13.13
benign|likely benign
NM_001136473.1(LITAF):c.-5-16T>G single nucleotide variant not provided [RCV000842550] Chr16:11556751 [GRCh38]
Chr16:11650607 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.-6+618C>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001121016] Chr16:11586268 [GRCh38]
Chr16:11680124 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1524C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001117333] Chr16:11548238 [GRCh38]
Chr16:11642094 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*173C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000856998] Chr16:11549589 [GRCh38]
Chr16:11643445 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*57G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000857001] Chr16:11549705 [GRCh38]
Chr16:11643561 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174229] Chr16:11556532 [GRCh38]
Chr16:11650388 [GRCh37]
Chr16:16p13.13
uncertain significance
NC_000016.10:g.(?_11549637)_(11556730_?)dup duplication Charcot-Marie-Tooth disease, type 1C [RCV001031446] Chr16:11643493..11650586 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001214494] Chr16:11556676 [GRCh38]
Chr16:11650532 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001243076] Chr16:11556607 [GRCh38]
Chr16:11650463 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*48T>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001227017] Chr16:11549714 [GRCh38]
Chr16:11643570 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.269G>A (p.Arg90His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173624]|Charcot-Marie-Tooth disease, type 1C [RCV001318612] Chr16:11553641 [GRCh38]
Chr16:11647497 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*19G>A single nucleotide variant not provided [RCV000996212] Chr16:11549743 [GRCh38]
Chr16:11643599 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001117446] Chr16:11553542 [GRCh38]
Chr16:11647398 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*149C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000856999] Chr16:11549613 [GRCh38]
Chr16:11643469 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV000975731] Chr16:11556699 [GRCh38]
Chr16:11650555 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*38C>T single nucleotide variant not provided [RCV000933286] Chr16:11549724 [GRCh38]
Chr16:11643580 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.280A>G (p.Met94Val) single nucleotide variant not provided [RCV000875439] Chr16:11553630 [GRCh38]
Chr16:11647486 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.*17-7C>T single nucleotide variant not provided [RCV001092815] Chr16:11549752 [GRCh38]
Chr16:11643608 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001245545] Chr16:11553600 [GRCh38]
Chr16:11647456 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1179A>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001117337] Chr16:11548583 [GRCh38]
Chr16:11642439 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*688A>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001120910] Chr16:11549074 [GRCh38]
Chr16:11642930 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*359C>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001120912] Chr16:11549403 [GRCh38]
Chr16:11643259 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*625A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001120911] Chr16:11549137 [GRCh38]
Chr16:11642993 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001035769] Chr16:11556559 [GRCh38]
Chr16:11650415 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.-6+513G>C single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001121017] Chr16:11586373 [GRCh38]
Chr16:11680229 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001216366] Chr16:11556705 [GRCh38]
Chr16:11650561 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001215348] Chr16:11556574 [GRCh38]
Chr16:11650430 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*158G>A single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001115988] Chr16:11549604 [GRCh38]
Chr16:11643460 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.377+3G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174232] Chr16:11553530 [GRCh38]
Chr16:11647386 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.221-16C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174233] Chr16:11553705 [GRCh38]
Chr16:11647561 [GRCh37]
Chr16:16p13.13
likely benign
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001055956] Chr16:11556714 [GRCh38]
Chr16:11650570 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.*1547A>G single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001115880] Chr16:11548215 [GRCh38]
Chr16:11642071 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.220+4C>T single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001204606] Chr16:11556507 [GRCh38]
Chr16:11650363 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001056753] Chr16:11553536 [GRCh38]
Chr16:11647392 [GRCh37]
Chr16:16p13.13
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001341705] Chr16:11549650 [GRCh38]
Chr16:11643506 [GRCh37]
Chr16:16p13.13
uncertain significance
NC_000016.9:g.(?_11650347)_(11650606_?)del deletion Charcot-Marie-Tooth disease, type 1C [RCV001324797] Chr16:11650347..11650606 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136472.2(LITAF):c.168del (p.Met56fs) deletion Charcot-Marie-Tooth disease, type 1C [RCV001337560] Chr16:11556563 [GRCh38]
Chr16:11650419 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136472.2(LITAF):c.197C>T (p.Ala66Val) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001347195] Chr16:11556534 [GRCh38]
Chr16:11650390 [GRCh37]
Chr16:16p13.13
uncertain significance
NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg) single nucleotide variant Charcot-Marie-Tooth disease, type 1C [RCV001325524] Chr16:11553627 [GRCh38]
Chr16:11647483 [GRCh37]
Chr16:16p13.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16841 AgrOrtholog
COSMIC LITAF COSMIC
Ensembl Genes ENSG00000189067 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000340118 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397958 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000458538 UniProtKB/TrEMBL
  ENSP00000458836 UniProtKB/TrEMBL
  ENSP00000458871 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000458981 UniProtKB/TrEMBL
  ENSP00000459026 UniProtKB/TrEMBL
  ENSP00000459094 UniProtKB/TrEMBL
  ENSP00000459138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000459533 UniProtKB/Swiss-Prot
  ENSP00000459603 UniProtKB/TrEMBL
  ENSP00000459898 UniProtKB/TrEMBL
  ENSP00000459913 UniProtKB/TrEMBL
  ENSP00000460133 UniProtKB/TrEMBL
  ENSP00000460743 UniProtKB/TrEMBL
  ENSP00000460873 UniProtKB/TrEMBL
  ENSP00000461667 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000461813 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483114 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339430 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413364 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000570798 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000570904 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000571277 UniProtKB/TrEMBL
  ENST00000571459 UniProtKB/TrEMBL
  ENST00000571627 UniProtKB/TrEMBL
  ENST00000571688 UniProtKB/Swiss-Prot
  ENST00000571976 UniProtKB/TrEMBL
  ENST00000572255 UniProtKB/TrEMBL
  ENST00000573332 UniProtKB/TrEMBL
  ENST00000574701 UniProtKB/TrEMBL
  ENST00000574703 UniProtKB/TrEMBL
  ENST00000574763 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000574848 UniProtKB/TrEMBL
  ENST00000575426 UniProtKB/TrEMBL
  ENST00000576036 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000576334 UniProtKB/TrEMBL
  ENST00000622633 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000189067 GTEx
HGNC ID HGNC:16841 ENTREZGENE
Human Proteome Map LITAF Human Proteome Map
InterPro LITAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LITAF_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9516 UniProtKB/Swiss-Prot
NCBI Gene 9516 ENTREZGENE
OMIM 601098 OMIM
  603795 OMIM
PANTHER PTHR23292 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-LITAF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134879224 PharmGKB
PROSITE LITAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LITAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JLC4_HUMAN UniProtKB/TrEMBL
  I3L133_HUMAN UniProtKB/TrEMBL
  I3L1H3_HUMAN UniProtKB/TrEMBL
  I3L1I9_HUMAN UniProtKB/TrEMBL
  I3L1P1_HUMAN UniProtKB/TrEMBL
  I3L1R0_HUMAN UniProtKB/TrEMBL
  I3L2E2_HUMAN UniProtKB/TrEMBL
  I3L2T1_HUMAN UniProtKB/TrEMBL
  I3L2T6_HUMAN UniProtKB/TrEMBL
  I3L329_HUMAN UniProtKB/TrEMBL
  I3L3U8_HUMAN UniProtKB/TrEMBL
  I3L409_HUMAN UniProtKB/TrEMBL
  LITAF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DUG1 UniProtKB/Swiss-Prot
  G5E9K0 UniProtKB/Swiss-Prot
  Q05DW0 UniProtKB/Swiss-Prot
  Q9C0L6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 LITAF  lipopolysaccharide induced TNF factor    lipopolysaccharide-induced TNF factor  Symbol and/or name change 5135510 APPROVED
2011-08-16 LITAF  lipopolysaccharide-induced TNF factor  LITAF  lipopolysaccharide-induced TNF factor  Symbol and/or name change 5135510 APPROVED