WFS1 wolframin ER transmembrane glycoprotein

Information
Symbol
WFS1
Type
protein-coding
Description
wolframin ER transmembrane glycoprotein
Entrez Gene ID
7466
Genome
hg19
Position
chr4:6,271,577-6,304,992
Genome
hg38
Position
chr4:6,269,850-6,303,265
MIM
606201 OMIM
HGNC
HGNC:12762 HGNC
Ensembl
ENSG00000109501 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 90 260
Likely pathogenic 0 170
Benign 64 464
Likely benign 0 956
Conflicting classifications of pathogenicity 0 462
Likely risk allele 0 16
Uncertain risk allele 0 102
Uncertain significance 0 1,412
Ranking
ClinVar
0
0
1,148
1,774
30
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CTRCT41
SYNONYM WFRS
SYNONYM WFS
SYNONYM WFSL
MIM 606201 OMIM
HGNC HGNC:12762 HGNC
Ensembl ENSG00000109501 Ensembl
AllianceGenome HGNC:12762
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000684087.1 hg38 chr4 6,277,309 6,303,250 25,942
ENST00000506362.2 hg38 chr4 6,269,977 6,302,871 32,895
ENST00000673991.1 hg38 chr4 6,269,849 6,303,225 33,377
ENST00000503569.5 hg38 chr4 6,269,849 6,302,883 33,035
ENST00000226760.5 hg38 chr4 6,269,850 6,303,265 33,416
ENST00000682059.1 hg38 chr4 6,277,455 6,283,277 5,823
ENST00000684054.1 hg38 chr4 6,277,455 6,289,223 11,769
ENST00000682275.1 hg38 chr4 6,269,850 6,303,251 33,402
ENST00000684700.1 hg38 chr4 6,277,455 6,291,652 14,198
ENST00000503569.5 hg19 chr4 6,271,576 6,304,610 33,035
ENST00000673991.1 hg19 chr4 6,271,576 6,304,952 33,377
ENST00000682275.1 hg19 chr4 6,271,577 6,304,978 33,402
ENST00000226760.5 hg19 chr4 6,271,577 6,304,992 33,416
ENST00000506362.2 hg19 chr4 6,271,704 6,304,598 32,895
ENST00000684087.1 hg19 chr4 6,279,036 6,304,977 25,942
ENST00000682059.1 hg19 chr4 6,279,182 6,285,004 5,823
ENST00000684054.1 hg19 chr4 6,279,182 6,290,950 11,769
ENST00000684700.1 hg19 chr4 6,279,182 6,293,379 14,198
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