WFS1 (wolframin ER transmembrane glycoprotein) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: WFS1 (wolframin ER transmembrane glycoprotein) Homo sapiens
Analyze
Symbol: WFS1
Name: wolframin ER transmembrane glycoprotein
RGD ID: 731649
HGNC Page HGNC
Description: Enables ATPase binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of ATF6-mediated unfolded protein response; negative regulation of apoptotic process; and regulation of transcription, DNA-templated. Located in endoplasmic reticulum and secretory granule. Is integral component of endoplasmic reticulum membrane. Implicated in Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CTRCT41; FLJ51211; WFRS; WFS; WFSL; Wolfram syndrome 1 (wolframin); wolframin
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 Ensembl46,269,849 - 6,303,265 (+)EnsemblGRCh38hg38GRCh38
GRCh3846,260,368 - 6,303,265 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3746,271,577 - 6,304,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,322,478 - 6,355,893 (+)NCBINCBI36hg18NCBI36
Build 3446,389,648 - 6,423,064NCBI
Celera46,172,234 - 6,205,670 (+)NCBI
Cytogenetic Map4p16.1NCBI
HuRef46,205,316 - 6,238,436 (+)NCBIHuRef
CHM1_146,269,525 - 6,302,942 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormality of mesentery morphology  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the diaphragm  (IAGP)
Abnormality of the pinna  (IAGP)
Abnormality of the upper urinary tract  (IAGP)
Abnormality of the vertebral column  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Arachnodactyly  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cleft palate  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Constipation  (IAGP)
Dandy-Walker malformation  (IAGP)
Delayed puberty  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes insipidus  (IAGP)
Diabetes mellitus  (IAGP)
Diaphragmatic eventration  (IAGP)
Duane anomaly  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysuria  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastric ulcer  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypothyroidism  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased waist to hip ratio  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Joint stiffness  (IAGP)
Laryngomalacia  (IAGP)
Late onset  (IAGP)
Limited mobility of proximal interphalangeal joint  (IAGP)
Low-frequency sensorineural hearing impairment  (IAGP)
Malabsorption  (IAGP)
Male hypogonadism  (IAGP)
Megaloblastic anemia  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Neurogenic bladder  (IAGP)
Nuclear cataract  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Polydipsia  (IAGP)
Primary gonadal insufficiency  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Recurrent urinary tract infections  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Sideroblastic anemia  (IAGP)
Sleep disturbance  (IAGP)
Small hand  (IAGP)
Stroke-like episode  (IAGP)
Testicular atrophy  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
References

References - curated
1. Awata T, etal., Biochem Biophys Res Commun. 2000 Feb 16;268(2):612-6.
2. Bespalova IN, etal., Hum Mol Genet. 2001 Oct 15;10(22):2501-8.
3. Chistiakov DA, etal., Rev Diabet Stud. 2010 Winter;7(4):285-92. doi: 10.1900/RDS.2010.7.285. Epub 2011 Feb 10.
4. Di Lorenzo C, etal., Neurosci Lett. 2007 Sep 13;424(3):179-84. Epub 2007 Aug 6.
5. Domenech E, etal., Eur J Hum Genet. 2002 Jul;10(7):421-6.
6. Florez JC, etal., Diabetologia. 2008 Mar;51(3):451-7. Epub 2007 Dec 4.
7. Franks PW, etal., Diabetologia. 2008 Mar;51(3):458-63. Epub 2007 Nov 27.
8. GOA_HUMAN data from the GO Consortium
9. Inoue H, etal., Nat Genet. 1998 Oct;20(2):143-8.
10. Ishihara H, etal., Hum Mol Genet. 2004 Jun 1;13(11):1159-70. Epub 2004 Mar 31.
11. Kesner Y, etal., Mol Psychiatry. 2009 Jan;14(1):86-94. Epub 2007 Oct 30.
12. Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18.
13. Larsen ZM, etal., Diabet Med. 2004 Mar;21(3):218-22.
14. Minton JA, etal., Diabetes. 2002 Apr;51(4):1287-90.
15. OMIM Disease Annotation Pipeline
16. Pipeline to import KEGG annotations from KEGG into RGD
17. Rendtorff ND, etal., Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28.
18. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. RGD automated import pipeline for gene-chemical interactions
20. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Zemlyak I, etal., J Neurochem. 2009 Dec;111(5):1252-63. doi: 10.1111/j.1471-4159.2009.06415.x. Epub 2009 Oct 3.
Additional References at PubMed
PMID:7987399   PMID:8595423   PMID:9817917   PMID:10424813   PMID:10521293   PMID:10624825   PMID:10760554   PMID:11161832   PMID:11181517   PMID:11181571   PMID:11295831   PMID:11317350  
PMID:11709538   PMID:11920861   PMID:12073007   PMID:12477932   PMID:12605098   PMID:12650912   PMID:12707947   PMID:12754709   PMID:12782971   PMID:12913071   PMID:12955714   PMID:14527944  
PMID:14968315   PMID:15234338   PMID:15277431   PMID:15473915   PMID:15489334   PMID:15605410   PMID:15852062   PMID:15912360   PMID:15994758   PMID:16005363   PMID:16043233   PMID:16087305  
PMID:16151413   PMID:16169070   PMID:16195229   PMID:16408729   PMID:16550584   PMID:16806192   PMID:16876316   PMID:16965966   PMID:16989814   PMID:17492394   PMID:17517145   PMID:17568405  
PMID:17603484   PMID:17947299   PMID:18197395   PMID:18212765   PMID:18426861   PMID:18518985   PMID:18544103   PMID:18566338   PMID:18568334   PMID:18591388   PMID:18597214   PMID:18660851  
PMID:18688868   PMID:18694974   PMID:18806274   PMID:18853134   PMID:18984664   PMID:18991055   PMID:19020324   PMID:19042979   PMID:19082521   PMID:19115052   PMID:19139842   PMID:19258404  
PMID:19258739   PMID:19279076   PMID:19324937   PMID:19328217   PMID:19330314   PMID:19380854   PMID:19502414   PMID:19598235   PMID:19602701   PMID:19720844   PMID:19734900   PMID:19741467  
PMID:19794065   PMID:19814620   PMID:19833888   PMID:19862325   PMID:19877185   PMID:19913121   PMID:20028947   PMID:20069065   PMID:20160352   PMID:20203524   PMID:20215779   PMID:20301317  
PMID:20301607   PMID:20301750   PMID:20361036   PMID:20384434   PMID:20490451   PMID:20509872   PMID:20571754   PMID:20580033   PMID:20581827   PMID:20628086   PMID:20712903   PMID:20802253  
PMID:20816152   PMID:20879858   PMID:20889853   PMID:21044950   PMID:21127832   PMID:21143470   PMID:21356526   PMID:21454619   PMID:21564155   PMID:21623591   PMID:21632151   PMID:21823543  
PMID:21873635   PMID:21900206   PMID:21968327   PMID:22240535   PMID:22498363   PMID:22662265   PMID:22781099   PMID:22810586   PMID:23035048   PMID:23103830   PMID:23144361   PMID:23257691  
PMID:23373429   PMID:23499253   PMID:23531866   PMID:23650218   PMID:23710284   PMID:23845777   PMID:23903355   PMID:24117146   PMID:24462114   PMID:24509480   PMID:24588001   PMID:24909696  
PMID:25074416   PMID:25211237   PMID:25250959   PMID:25255707   PMID:25274773   PMID:25740874   PMID:25764693   PMID:25800097   PMID:26169481   PMID:26186194   PMID:26426397   PMID:26638075  
PMID:26773575   PMID:26871637   PMID:26875006   PMID:26943604   PMID:27377286   PMID:27395765   PMID:27412528   PMID:27432908   PMID:27468121   PMID:27684187   PMID:28039263   PMID:28271504  
PMID:28298427   PMID:28419064   PMID:28468959   PMID:28514442   PMID:28692057   PMID:28802351   PMID:28974383   PMID:29180619   PMID:29258540   PMID:29357349   PMID:29447883   PMID:29507755  
PMID:29509190   PMID:29529044   PMID:29626590   PMID:30014265   PMID:30305294   PMID:30957632   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31363008   PMID:31477210   PMID:31536960  
PMID:31658956   PMID:31759989   PMID:31937257   PMID:32219690   PMID:32296183   PMID:32382995   PMID:32567228   PMID:32788342   PMID:32807901   PMID:32814053   PMID:32941674   PMID:33179441  
PMID:33845483   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
WFS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl46,269,849 - 6,303,265 (+)EnsemblGRCh38hg38GRCh38
GRCh3846,260,368 - 6,303,265 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3746,271,577 - 6,304,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,322,478 - 6,355,893 (+)NCBINCBI36hg18NCBI36
Build 3446,389,648 - 6,423,064NCBI
Celera46,172,234 - 6,205,670 (+)NCBI
Cytogenetic Map4p16.1NCBI
HuRef46,205,316 - 6,238,436 (+)NCBIHuRef
CHM1_146,269,525 - 6,302,942 (+)NCBICHM1_1
Wfs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39537,123,448 - 37,146,326 (-)NCBIGRCm39mm39
GRCm39 Ensembl537,123,448 - 37,146,549 (-)Ensembl
GRCm38536,966,104 - 36,988,982 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl536,966,104 - 36,989,205 (-)EnsemblGRCm38mm10GRCm38
MGSCv37537,357,343 - 37,380,221 (-)NCBIGRCm37mm9NCBIm37
MGSCv36537,254,356 - 37,277,158 (-)NCBImm8
Celera534,417,849 - 34,440,871 (-)NCBICelera
Cytogenetic Map5B3NCBI
Wfs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21473,810,478 - 73,834,993 (+)NCBI
Rnor_6.0 Ensembl1478,640,620 - 78,665,966 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01478,640,707 - 78,665,224 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01478,606,172 - 78,630,689 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41479,379,680 - 79,404,003 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11479,389,637 - 79,406,394 (+)NCBI
Celera1472,756,725 - 72,781,236 (+)NCBICelera
Cytogenetic Map14q21NCBI
Wfs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555143,902,454 - 3,924,610 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555143,902,508 - 3,924,281 (-)NCBIChiLan1.0ChiLan1.0
WFS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.146,345,960 - 6,379,094 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl46,345,864 - 6,379,287 (+)Ensemblpanpan1.1panPan2
WFS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11338,451,722 - 38,466,481 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1338,451,710 - 38,475,827 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1338,428,703 - 38,449,916 (-)NCBI
ROS_Cfam_1.01338,942,257 - 38,963,449 (-)NCBI
UMICH_Zoey_3.11338,633,035 - 38,659,609 (-)NCBI
UNSW_CanFamBas_1.01338,742,939 - 38,764,184 (-)NCBI
UU_Cfam_GSD_1.01339,217,791 - 39,239,032 (-)NCBI
Wfs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528564,638,197 - 64,663,281 (+)NCBI
SpeTri2.0NW_00493647718,339,915 - 18,364,973 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WFS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl84,362,678 - 4,385,272 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.184,362,678 - 4,405,185 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.282,954,118 - 2,962,286 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WFS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12742,404,028 - 42,437,988 (+)NCBI
ChlSab1.1 Ensembl2742,404,084 - 42,438,005 (+)Ensembl
Vero_WHO_p1.0NW_02366604789,197,417 - 89,231,280 (+)NCBI
Wfs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475522,818,653 - 22,841,717 (+)NCBI

Position Markers
D4S3023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,301,469 - 4,301,613UniSTSGRCh37
Build 3644,352,370 - 4,352,514RGDNCBI36
Celera44,199,092 - 4,199,242RGD
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef44,237,147 - 4,237,295UniSTS
Marshfield Genetic Map48.24UniSTS
Marshfield Genetic Map48.24RGD
Genethon Genetic Map46.7UniSTS
TNG Radiation Hybrid Map42481.0UniSTS
deCODE Assembly Map47.17UniSTS
Stanford-G3 RH Map4258.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map462.1UniSTS
D4S3007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,782,524 - 6,782,769UniSTSGRCh37
Build 3646,833,425 - 6,833,670RGDNCBI36
Celera46,684,539 - 6,684,782RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,713,827 - 6,714,066UniSTS
Marshfield Genetic Map412.93RGD
Marshfield Genetic Map412.93UniSTS
Genethon Genetic Map412.3UniSTS
deCODE Assembly Map413.98UniSTS
GeneMap99-GB4 RH Map442.84UniSTS
Whitehead-RH Map438.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map481.3UniSTS
SHGC-59709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,303,458 - 6,303,688UniSTSGRCh37
Build 3646,354,359 - 6,354,589RGDNCBI36
Celera46,204,136 - 6,204,366RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,236,902 - 6,237,132UniSTS
TNG Radiation Hybrid Map43669.0UniSTS
GeneMap99-GB4 RH Map445.04UniSTS
D4S126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3743,695,134 - 3,695,309UniSTSGRCh37
GRCh3743,052,697 - 3,052,861UniSTSGRCh37
GRCh3743,692,336 - 3,692,519UniSTSGRCh37
Build 3643,662,134 - 3,662,317RGDNCBI36
Celera42,963,943 - 2,964,105UniSTS
Celera43,598,120 - 3,598,295UniSTS
Celera43,595,322 - 3,595,505RGD
Cytogenetic Map4p16.1UniSTS
HuRef43,632,410 - 3,632,585UniSTS
HuRef42,991,179 - 2,991,349UniSTS
HuRef43,629,612 - 3,629,795UniSTS
G01790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,293,523 - 6,293,705UniSTSGRCh37
Build 3646,344,424 - 6,344,606RGDNCBI36
Celera46,194,202 - 6,194,384RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,227,278 - 6,227,460UniSTS
WI-21965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,304,741 - 6,304,990UniSTSGRCh37
Build 3646,355,642 - 6,355,891RGDNCBI36
Celera46,205,419 - 6,205,668RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,238,185 - 6,238,434UniSTS
GeneMap99-GB4 RH Map440.23UniSTS
Whitehead-RH Map436.2UniSTS
NCBI RH Map481.3UniSTS
WFS1__4904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,304,369 - 6,305,114UniSTSGRCh37
Build 3646,355,270 - 6,356,015RGDNCBI36
Celera46,205,047 - 6,205,792RGD
HuRef46,237,813 - 6,238,558UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1633
Count of miRNA genes:796
Interacting mature miRNAs:913
Transcripts:ENST00000226760, ENST00000503569, ENST00000506362, ENST00000506588, ENST00000507765, ENST00000513395
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
Medium 2403 2173 1514 409 555 259 4117 1896 3627 322 1456 1582 166 1 1204 2552 6 2
Low 36 670 211 215 1177 206 240 298 106 97 4 30 9 236
Below cutoff 148 1 185 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB839160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC890796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP744537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR014943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR014944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR014945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT832014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000226760   ⟹   ENSP00000226760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,269,850 - 6,303,265 (+)Ensembl
RefSeq Acc Id: ENST00000503569   ⟹   ENSP00000423337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,269,849 - 6,302,883 (+)Ensembl
RefSeq Acc Id: ENST00000506362   ⟹   ENSP00000424103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,269,977 - 6,302,871 (+)Ensembl
RefSeq Acc Id: ENST00000506588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,269,850 - 6,287,277 (+)Ensembl
RefSeq Acc Id: ENST00000507765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,288,487 - 6,303,265 (+)Ensembl
RefSeq Acc Id: ENST00000513395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,294,771 - 6,300,807 (+)Ensembl
RefSeq Acc Id: ENST00000673642   ⟹   ENSP00000501242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,657 - 6,302,149 (+)Ensembl
RefSeq Acc Id: ENST00000673991   ⟹   ENSP00000501033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,269,849 - 6,303,225 (+)Ensembl
RefSeq Acc Id: ENST00000674051   ⟹   ENSP00000501083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,451 - 6,291,308 (+)Ensembl
RefSeq Acc Id: ENST00000682059   ⟹   ENSP00000507988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,455 - 6,283,277 (+)Ensembl
RefSeq Acc Id: ENST00000682275   ⟹   ENSP00000507852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,269,850 - 6,303,251 (+)Ensembl
RefSeq Acc Id: ENST00000683395   ⟹   ENSP00000507124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,466 - 6,303,264 (+)Ensembl
RefSeq Acc Id: ENST00000684054   ⟹   ENSP00000507120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,455 - 6,289,223 (+)Ensembl
RefSeq Acc Id: ENST00000684087   ⟹   ENSP00000506978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,309 - 6,303,250 (+)Ensembl
RefSeq Acc Id: ENST00000684700   ⟹   ENSP00000507806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,277,455 - 6,291,652 (+)Ensembl
RefSeq Acc Id: NM_001145853   ⟹   NP_001139325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,269,850 - 6,303,265 (+)NCBI
GRCh3746,271,577 - 6,304,992 (+)ENTREZGENE
HuRef46,205,316 - 6,238,436 (+)ENTREZGENE
CHM1_146,269,525 - 6,302,942 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006005   ⟹   NP_005996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,269,850 - 6,303,265 (+)NCBI
GRCh3746,271,577 - 6,304,992 (+)ENTREZGENE
Build 3646,322,478 - 6,355,893 (+)NCBI Archive
HuRef46,205,316 - 6,238,436 (+)ENTREZGENE
CHM1_146,269,525 - 6,302,942 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008586   ⟹   XP_016864075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,260,368 - 6,303,265 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005996   ⟸   NM_006005
- UniProtKB: O76024 (UniProtKB/Swiss-Prot),   A0A0S2Z4V6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139325   ⟸   NM_001145853
- UniProtKB: O76024 (UniProtKB/Swiss-Prot),   A0A0S2Z4V6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864075   ⟸   XM_017008586
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000501242   ⟸   ENST00000673642
RefSeq Acc Id: ENSP00000501033   ⟸   ENST00000673991
RefSeq Acc Id: ENSP00000423337   ⟸   ENST00000503569
RefSeq Acc Id: ENSP00000501083   ⟸   ENST00000674051
RefSeq Acc Id: ENSP00000424103   ⟸   ENST00000506362
RefSeq Acc Id: ENSP00000226760   ⟸   ENST00000226760
RefSeq Acc Id: ENSP00000507124   ⟸   ENST00000683395
RefSeq Acc Id: ENSP00000507852   ⟸   ENST00000682275
RefSeq Acc Id: ENSP00000507120   ⟸   ENST00000684054
RefSeq Acc Id: ENSP00000507988   ⟸   ENST00000682059
RefSeq Acc Id: ENSP00000506978   ⟸   ENST00000684087
RefSeq Acc Id: ENSP00000507806   ⟸   ENST00000684700

Promoters
RGD ID:6866968
Promoter ID:EPDNEW_H6649
Type:initiation region
Name:WFS1_1
Description:wolframin ER transmembrane glycoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,269,882 - 6,269,942EPDNEW
RGD ID:6802763
Promoter ID:HG_KWN:47786
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000226760,   UC003GIY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3646,322,071 - 6,322,617 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
WFS1, 8-BP DEL, NT2106 deletion Wolfram syndrome 1 [RCV000023511] Chr4:4p16.1 pathogenic
WFS1, ARG228GLN variation Wolfram-like syndrome, autosomal dominant [RCV000023512] Chr4:4p16.1 pathogenic
WFS1, LYS836ASN single nucleotide variant Wolfram-like syndrome, autosomal dominant [RCV000023513] Chr4:4p16.1 pathogenic
V415del deletion Wolfram syndrome 1 [RCV000023516] Chr4:4p16.1 pathogenic
WFS1, 4-BP DEL, 1387CTCT deletion Wolfram syndrome 1 [RCV000023517] Chr4:4p16.1 pathogenic
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) deletion Wolfram syndrome 1 [RCV000004772] Chr4:6301175..6301183 [GRCh38]
Chr4:6302902..6302910 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.460+1G>A single nucleotide variant Wolfram syndrome 1 [RCV000004773] Chr4:6289132 [GRCh38]
Chr4:6290859 [GRCh37]
Chr4:4p16.1
pathogenic
WFS1, 4-BP DEL, NT2648 AND Diabetes mellitus AND insipidus with optic atrophy deletion Diabetes mellitus AND insipidus with optic atrophy AND deafness [RCV000004776] Chr4:4p16.1 pathogenic
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) duplication WFS1-Related Spectrum Disorders [RCV000778736]|Wolfram syndrome 1 [RCV000004777]|Wolfram syndrome [RCV000499974]|not provided [RCV001385126] Chr4:6289078..6289079 [GRCh38]
Chr4:6290805..6290806 [GRCh37]
Chr4:4p16.1
pathogenic
WFS1, 16-BP DEL, NT1362 deletion Wolfram syndrome 1 [RCV000004783] Chr4:4p16.1 pathogenic
WFS1, 2-BP DEL, 2812TC deletion Wolfram syndrome 1 [RCV000004765] Chr4:4p16.1 pathogenic
WFS1, 15-BP DEL, NT1685 deletion Wolfram syndrome 1 [RCV000004766] Chr4:4p16.1 pathogenic
WFS1, 7-BP INS, NT1610 insertion Wolfram syndrome 1 [RCV000004771] Chr4:4p16.1 pathogenic
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) single nucleotide variant Cataract 41 [RCV000723288] Chr4:6302289 [GRCh38]
Chr4:6304016 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.615C>G (p.Gly205=) single nucleotide variant not provided [RCV000729921] Chr4:6291351 [GRCh38]
Chr4:6293078 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001153358]|WFS1-Related Spectrum Disorders [RCV001153357]|not provided [RCV000722247] Chr4:6301788 [GRCh38]
Chr4:6303515 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1613T>C (p.Phe538Ser) single nucleotide variant not provided [RCV000722408] Chr4:6301408 [GRCh38]
Chr4:6303135 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) single nucleotide variant not provided [RCV000727902] Chr4:6300772 [GRCh38]
Chr4:6302499 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) indel not provided [RCV000722519] Chr4:6302358..6302360 [GRCh38]
Chr4:6304085..6304087 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) single nucleotide variant Dandy-Walker syndrome [RCV000735330] Chr4:6301794 [GRCh38]
Chr4:6303521 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2201T>A (p.Leu734His) single nucleotide variant not provided [RCV000729131] Chr4:6301996 [GRCh38]
Chr4:6303723 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2532C>T (p.Ala844=) single nucleotide variant not specified [RCV000602823] Chr4:6302327 [GRCh38]
Chr4:6304054 [GRCh37]
Chr4:4p16.1
likely benign
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001155662]|WFS1-Related Spectrum Disorders [RCV001155663]|not provided [RCV000132655]|not specified [RCV001195409] Chr4:6301029 [GRCh38]
Chr4:6302756 [GRCh37]
Chr4:4p16.1
likely benign|uncertain significance
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000264975]|WFS1-Related Spectrum Disorders [RCV000324875]|Wolfram syndrome 1 [RCV000490497]|not provided [RCV000132656]|not specified [RCV000155350] Chr4:6302004 [GRCh38]
Chr4:6303731 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) single nucleotide variant Wolfram syndrome 1 [RCV000023510] Chr4:6301914 [GRCh38]
Chr4:6303641 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) single nucleotide variant Inborn genetic diseases [RCV000623116]|Wolfram syndrome 1 [RCV000023515]|Wolfram syndrome 1 [RCV000605882]|Wolfram-like syndrome, autosomal dominant [RCV000023514]|not provided [RCV000200668] Chr4:6301846 [GRCh38]
Chr4:6303573 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) single nucleotide variant Wolfram-like syndrome, autosomal dominant [RCV000023518] Chr4:6302133 [GRCh38]
Chr4:6303860 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) single nucleotide variant Wolfram syndrome 1 [RCV000004767]|not provided [RCV000756934] Chr4:6301966 [GRCh38]
Chr4:6303693 [GRCh37]
Chr4:4p16.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) single nucleotide variant Wolfram syndrome 1 [RCV000004768] Chr4:6301879 [GRCh38]
Chr4:6303606 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) single nucleotide variant Wolfram syndrome 1 [RCV000004769] Chr4:6301739 [GRCh38]
Chr4:6303466 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) single nucleotide variant Wolfram syndrome 1 [RCV000004770]|not provided [RCV001387727] Chr4:6301306 [GRCh38]
Chr4:6303033 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) single nucleotide variant Wolfram syndrome 1 [RCV000004774] Chr4:6291961 [GRCh38]
Chr4:6293688 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) single nucleotide variant Wolfram syndrome 1 [RCV000004775] Chr4:6302250 [GRCh38]
Chr4:6303977 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000004778]|Rare genetic deafness [RCV000599627]|not provided [RCV000522349] Chr4:6301941 [GRCh38]
Chr4:6303668 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000004779]|Inborn genetic diseases [RCV001267554]|not provided [RCV000726781] Chr4:6302281 [GRCh38]
Chr4:6304008 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000004780]|not specified [RCV000238945] Chr4:6301891 [GRCh38]
Chr4:6303618 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000004781]|not provided [RCV000521055] Chr4:6302287 [GRCh38]
Chr4:6304014 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000004782] Chr4:6301696 [GRCh38]
Chr4:6303423 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000020637]|DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss [RCV000225037]|Rare genetic deafness [RCV000599631]|Wolfram-like syndrome, autosomal dominant [RCV000004784]|not provided [RCV000523215] Chr4:6302385 [GRCh38]
Chr4:6304112 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic
NM_006005.3(WFS1):c.461-9A>G single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000325882]|Type 2 diabetes mellitus [RCV000004785]|WFS1-Related Spectrum Disorders [RCV000273205]|none provided [RCV001281762]|not provided [RCV001513863]|not specified [RCV000038664] Chr4:6291188 [GRCh38]
Chr4:6292915 [GRCh37]
Chr4:4p16.1
pathogenic|association|benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.713-1075C>G single nucleotide variant Diabetes mellitus, noninsulin-dependent, association with [RCV000004786]|Type 2 diabetes mellitus [RCV001255180]|Wolfram syndrome 1 [RCV000987406]|not provided [RCV000830171] Chr4:6293966 [GRCh38]
Chr4:6295693 [GRCh37]
Chr4:4p16.1
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000004787]|WFS1-Related Spectrum Disorders [RCV000275899]|not provided [RCV000480362] Chr4:6302371 [GRCh38]
Chr4:6304098 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) single nucleotide variant Cataract 41 [RCV000077875] Chr4:6301180 [GRCh38]
Chr4:6302907 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000319531]|WFS1-Related Spectrum Disorders [RCV000374136]|not provided [RCV001517176]|not specified [RCV000038632] Chr4:6300818 [GRCh38]
Chr4:6302545 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) single nucleotide variant not specified [RCV000038633] Chr4:6300898 [GRCh38]
Chr4:6302625 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000285280]|WFS1-Related Spectrum Disorders [RCV000379830]|not provided [RCV000876661]|not specified [RCV000038634] Chr4:6300929 [GRCh38]
Chr4:6302656 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.1185C>T (p.Val395=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000344908]|WFS1-Related Spectrum Disorders [RCV000380942]|none provided [RCV001281764]|not provided [RCV001523397]|not specified [RCV000038635] Chr4:6300980 [GRCh38]
Chr4:6302707 [GRCh37]
Chr4:4p16.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) single nucleotide variant Monogenic diabetes [RCV001174420]|WFS1-Related Spectrum Disorders [RCV001157341]|not provided [RCV000756927]|not specified [RCV000038636] Chr4:6301072 [GRCh38]
Chr4:6302799 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000394964]|WFS1-Related Spectrum Disorders [RCV000297855]|none provided [RCV001283127]|not provided [RCV000871115]|not specified [RCV000038637] Chr4:6301103 [GRCh38]
Chr4:6302830 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000269758]|WFS1-Related Spectrum Disorders [RCV000363867]|none provided [RCV001282559]|not provided [RCV001523400]|not specified [RCV000038638] Chr4:6301162 [GRCh38]
Chr4:6302889 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) single nucleotide variant not provided [RCV000766857]|not specified [RCV000038639] Chr4:6277598 [GRCh38]
Chr4:6279325 [GRCh37]
Chr4:4p16.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000384013]|Monogenic diabetes [RCV000664089]|WFS1-Related Spectrum Disorders [RCV000329452]|not provided [RCV000870509]|not specified [RCV000038640] Chr4:6301290 [GRCh38]
Chr4:6303017 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000294241]|WFS1-Related Spectrum Disorders [RCV000330600]|not provided [RCV001513865]|not specified [RCV000038641] Chr4:6301295 [GRCh38]
Chr4:6303022 [GRCh37]
Chr4:4p16.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000361141]|WFS1-Related Spectrum Disorders [RCV000396690]|not provided [RCV001517177]|not specified [RCV000038642] Chr4:6301520 [GRCh38]
Chr4:6303247 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000307804]|Monogenic diabetes [RCV000445534]|WFS1-Related Spectrum Disorders [RCV000362526]|none provided [RCV001283204]|not provided [RCV000755448]|not specified [RCV000038643] Chr4:6301521 [GRCh38]
Chr4:6303248 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000374202]|Monogenic diabetes [RCV000445501]|WFS1-Related Spectrum Disorders [RCV000284377]|none provided [RCV001282628]|not provided [RCV000870649]|not specified [RCV000038644] Chr4:6301600 [GRCh38]
Chr4:6303327 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) single nucleotide variant Monogenic diabetes [RCV001174424]|not specified [RCV000038645] Chr4:6301615 [GRCh38]
Chr4:6303342 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000339307]|WFS1-Related Spectrum Disorders [RCV000404430]|Wolfram syndrome 1 [RCV000987411]|none provided [RCV001282499]|not provided [RCV001523401]|not specified [RCV000038646] Chr4:6301627 [GRCh38]
Chr4:6303354 [GRCh37]
Chr4:4p16.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) single nucleotide variant Monogenic diabetes [RCV001174425]|Rare genetic deafness [RCV000038647]|not provided [RCV000196272] Chr4:6301681 [GRCh38]
Chr4:6303408 [GRCh37]
Chr4:4p16.1
likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) single nucleotide variant not specified [RCV000038648] Chr4:6301738 [GRCh38]
Chr4:6303465 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000345107]|Monogenic diabetes [RCV000664091]|WFS1-Related Spectrum Disorders [RCV000405887]|not provided [RCV000755449]|not specified [RCV000038649] Chr4:6301807 [GRCh38]
Chr4:6303534 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) single nucleotide variant Rare genetic deafness [RCV000038650] Chr4:6301849 [GRCh38]
Chr4:6303576 [GRCh37]
Chr4:4p16.1
pathogenic
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) single nucleotide variant Rare genetic deafness [RCV000038651] Chr4:6301936 [GRCh38]
Chr4:6303663 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000318906]|WFS1-Related Spectrum Disorders [RCV000378185]|not provided [RCV000876662]|not specified [RCV000038652] Chr4:6301979 [GRCh38]
Chr4:6303706 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.21G>T (p.Pro7=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000403693]|WFS1-Related Spectrum Disorders [RCV000344123]|not provided [RCV001521310]|not specified [RCV000038653] Chr4:6277476 [GRCh38]
Chr4:6279203 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) single nucleotide variant not provided [RCV000876954]|not specified [RCV000038654] Chr4:6301997 [GRCh38]
Chr4:6303724 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000289183]|WFS1-Related Spectrum Disorders [RCV000379444]|not provided [RCV000756929]|not specified [RCV000038655] Chr4:6302042 [GRCh38]
Chr4:6303769 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000315287]|WFS1-Related Spectrum Disorders [RCV000404074]|none provided [RCV001282630]|not provided [RCV001517178]|not specified [RCV000038656] Chr4:6302117 [GRCh38]
Chr4:6303844 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000300529]|Monogenic diabetes [RCV000664095]|WFS1-Related Spectrum Disorders [RCV000404342]|not provided [RCV000515097]|not specified [RCV000038657] Chr4:6302130 [GRCh38]
Chr4:6303857 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) microsatellite not provided [RCV000658992]|not specified [RCV000038658] Chr4:6302180..6302181 [GRCh38]
Chr4:6303907..6303908 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000352148]|WFS1-Related Spectrum Disorders [RCV000292566]|none provided [RCV001282500]|not provided [RCV001523402]|not specified [RCV000038659] Chr4:6302228 [GRCh38]
Chr4:6303955 [GRCh37]
Chr4:4p16.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000329623]|WFS1-Related Spectrum Disorders [RCV000272258]|none provided [RCV001282501]|not provided [RCV001523403]|not specified [RCV000038660] Chr4:6302360 [GRCh38]
Chr4:6304087 [GRCh37]
Chr4:4p16.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) single nucleotide variant Monogenic diabetes [RCV001174385]|not provided [RCV000872827]|not specified [RCV000038661] Chr4:6289021 [GRCh38]
Chr4:6290748 [GRCh37]
Chr4:4p16.1
benign
NM_006005.3(WFS1):c.402G>A (p.Ala134=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000362055]|WFS1-Related Spectrum Disorders [RCV000396757]|not provided [RCV000871734]|not specified [RCV000038662] Chr4:6289073 [GRCh38]
Chr4:6290800 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_006005.3(WFS1):c.461-15C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000303369]|WFS1-Related Spectrum Disorders [RCV000365086]|not provided [RCV001513862]|not specified [RCV000038663] Chr4:6291182 [GRCh38]
Chr4:6292909 [GRCh37]
Chr4:4p16.1
benign
NM_006005.3(WFS1):c.684C>G (p.Arg228=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000319343]|WFS1-Related Spectrum Disorders [RCV000261705]|not provided [RCV001513864]|not specified [RCV000038665] Chr4:6291969 [GRCh38]
Chr4:6293696 [GRCh37]
Chr4:4p16.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) single nucleotide variant not specified [RCV000038666] Chr4:6277538 [GRCh38]
Chr4:6279265 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.930A>G (p.Ala310=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001155561]|WFS1-Related Spectrum Disorders [RCV001155562]|not provided [RCV000865492]|not specified [RCV000038667] Chr4:6300725 [GRCh38]
Chr4:6302452 [GRCh37]
Chr4:4p16.1
benign
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001157248]|WFS1-Related Spectrum Disorders [RCV000259675]|none provided [RCV001281763]|not provided [RCV001523396]|not specified [RCV000038668] Chr4:6300792 [GRCh38]
Chr4:6302519 [GRCh37]
Chr4:4p16.1
benign
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1
pathogenic
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) single nucleotide variant Monogenic diabetes [RCV000664088] Chr4:6300774 [GRCh38]
Chr4:6302501 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) single nucleotide variant not provided [RCV000657864] Chr4:6300976 [GRCh38]
Chr4:6302703 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) single nucleotide variant not provided [RCV000658092] Chr4:6301512 [GRCh38]
Chr4:6303239 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) single nucleotide variant Monogenic diabetes [RCV000664096]|not provided [RCV000952030] Chr4:6302358 [GRCh38]
Chr4:6304085 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2570C>A (p.Thr857Asn) single nucleotide variant Monogenic diabetes [RCV000664097] Chr4:6302365 [GRCh38]
Chr4:6304092 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000336857]|Monogenic diabetes [RCV001174423]|WFS1-Related Spectrum Disorders [RCV000281797]|none provided [RCV001283130]|not provided [RCV000081339]|not specified [RCV000150097] Chr4:6301470 [GRCh38]
Chr4:6303197 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000301562]|Monogenic diabetes [RCV001174427]|WFS1-Related Spectrum Disorders [RCV000361228]|not provided [RCV000872722]|not specified [RCV000081340] Chr4:6302151 [GRCh38]
Chr4:6303878 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2500G>A (p.Gly834Ser) single nucleotide variant not provided [RCV000081341] Chr4:6302295 [GRCh38]
Chr4:6304022 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000342228]|Monogenic diabetes [RCV000445441]|WFS1-Related Spectrum Disorders [RCV001156285]|none provided [RCV001282171]|not provided [RCV000421798]|not specified [RCV000081342] Chr4:6302406 [GRCh38]
Chr4:6304133 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001157249]|WFS1-Related Spectrum Disorders [RCV001157250]|not provided [RCV000118863]|not specified [RCV000825497] Chr4:6300819 [GRCh38]
Chr4:6302546 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000403034]|Monogenic diabetes [RCV000445373]|WFS1-Related Spectrum Disorders [RCV000336052]|Wolfram syndrome 1 [RCV000987413]|none provided [RCV001282325]|not provided [RCV000487646]|not specified [RCV000118865] Chr4:6302247 [GRCh38]
Chr4:6303974 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000309925]|WFS1-Related Spectrum Disorders [RCV000364662]|not provided [RCV000870843]|not specified [RCV000118867] Chr4:6301814 [GRCh38]
Chr4:6303541 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) single nucleotide variant not provided [RCV000118868]|not specified [RCV000152692] Chr4:6301977 [GRCh38]
Chr4:6303704 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000393279]|WFS1-Related Spectrum Disorders [RCV000361257]|not provided [RCV000870844]|not specified [RCV000118869] Chr4:6302264 [GRCh38]
Chr4:6303991 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.9C>T (p.Ser3=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000291481]|WFS1-Related Spectrum Disorders [RCV000383272]|not provided [RCV000756923]|not specified [RCV000118870] Chr4:6277464 [GRCh38]
Chr4:6279191 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001154623]|WFS1-Related Spectrum Disorders [RCV001154624]|Wolfram syndrome 1 [RCV000709886]|not provided [RCV000756925]|not specified [RCV000152665] Chr4:6291218 [GRCh38]
Chr4:6292945 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_006005.3(WFS1):c.1158C>T (p.Pro386=) single nucleotide variant not provided [RCV000871458]|not specified [RCV000126316] Chr4:6300953 [GRCh38]
Chr4:6302680 [GRCh37]
Chr4:4p16.1
benign
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001157342]|Monogenic diabetes [RCV000445544]|WFS1-Related Spectrum Disorders [RCV000351887]|Wolfram syndrome 1 [RCV000987408]|none provided [RCV001282748]|not provided [RCV000415767]|not specified [RCV000155411] Chr4:6301089 [GRCh38]
Chr4:6302816 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001151986]|Monogenic diabetes [RCV000664090]|WFS1-Related Spectrum Disorders [RCV001151987]|not provided [RCV000724541]|not specified [RCV000155342] Chr4:6301392 [GRCh38]
Chr4:6303119 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.1797C>A (p.Val599=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000368428]|WFS1-Related Spectrum Disorders [RCV000273823]|none provided [RCV001286409]|not provided [RCV000865310]|not specified [RCV000155409] Chr4:6301592 [GRCh38]
Chr4:6303319 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV000319583]|WFS1-Related Spectrum Disorders [RCV000278581]|none provided [RCV001286410]|not provided [RCV000865311]|not specified [RCV000152682] Chr4:6301595 [GRCh38]
Chr4:6303322 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001157672]|WFS1-Related Spectrum Disorders [RCV001157673]|none provided [RCV001282547]|not provided [RCV000487609]|not specified [RCV000152687] Chr4:6301847 [GRCh38]
Chr4:6303574 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001157670]|WFS1-Related Spectrum Disorders [RCV001157676]|not provided [RCV000487871]|not specified [RCV000155348] Chr4:6301919 [GRCh38]
Chr4:6303646 [GRCh37]
Chr4:4p16.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) single nucleotide variant Monogenic diabetes [RCV001174426]|WFS1-Related Spectrum Disorders [RCV000263623]|not provided [RCV000756928]|not specified [RCV000152691] Chr4:6301953 [GRCh38]
Chr4:6303680 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001153483]|WFS1-Related Spectrum Disorders [RCV001153482]|not provided [RCV000756926]|not specified [RCV000155349] Chr4:6302000 [GRCh38]
Chr4:6303727 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.-6+11C>T single nucleotide variant Autosomal dominant nonsyndromic deafness 6 [RCV001154415]|WFS1-Related Spectrum Disorders [RCV001154416]|not specified [RCV000126334] Chr4:6270025 [GRCh38]
Chr4:6271752 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_006005.3(WFS1):c.862G>A (p.Val288Met) single nucleotide variant not provided [RCV001303065]|not specified [RCV000171514] Chr4:6300657 [GRCh38]
Chr4:6302384 [GRCh37]
Chr4:4p16.1
likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) single nucleotide variant Diabetes mellitus [RCV001175325]|WFS1-Related Spectrum Disorders [RCV000778739]|Wolfram syndrome [RCV000501459]|not provided [RCV000255189]|not specified [RCV000599628] Chr4:6301467 [GRCh38]
Chr4:6303194 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006005.3(WFS1):c.578dup (p.Gln194fs) duplication Wolfram syndrome 1 [RCV001291716]|Wolfram-like syndrome, autosomal dominant [RCV001291715] Chr4:6291312..6291313 [GRCh38]
Chr4:6293039..6293040 [GRCh37]
Chr4:4p16.1
likely pathogenic|uncertain significance
NM_006005.3(WFS1):c.1514G>C (p.Cys505Ser) single nucleotide variant not provided [RCV001312645] Chr4:6301309 [GRCh38]
Chr4:6303036 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013&n