ENOSF1 enolase superfamily member 1

Information
Symbol
ENOSF1
Type
protein-coding
Description
enolase superfamily member 1
Entrez Gene ID
55556
Genome
hg19
Position
chr18:673,900-712,593
Genome
hg38
Position
chr18:673,900-712,593
MIM
607427 OMIM
HGNC
HGNC:30365 HGNC
Ensembl
ENSG00000132199 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 4 2
Likely benign 0 8
not provided 4 0
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
78
0
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 :
Search word :
Filtering :
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 FUCD
SYNONYM RTS
SYNONYM TYMSAS
MIM 607427 OMIM
HGNC HGNC:30365 HGNC
Ensembl ENSG00000132199 Ensembl
AllianceGenome HGNC:30365
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647584.2 hg38 chr18 670,318 712,630 42,313
ENST00000383578.7 hg38 chr18 670,324 712,662 42,339
ENST00000580982.5 hg38 chr18 674,040 712,615 38,576
ENST00000340116.12 hg38 chr18 673,900 712,593 38,694
ENST00000383578.7 hg19 chr18 670,324 712,662 42,339
ENST00000340116.12 hg19 chr18 673,900 712,593 38,694
ENST00000580982.5 hg19 chr18 674,040 712,615 38,576
ENST00000647584.2 hg19 chr18 670,318 712,630 42,313
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