GEN1 GEN1 Holliday junction 5' flap endonuclease

Information
Symbol
GEN1
Type
protein-coding
Description
GEN1 Holliday junction 5' flap endonuclease
Entrez Gene ID
348654
Genome
hg19
Position
chr2:17,935,405-17,970,213
Genome
hg38
Position
chr2:17,754,138-17,788,946
MIM
612449 OMIM
HGNC
HGNC:26881 HGNC
Ensembl
ENSG00000178295 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 108
Likely benign 2 342
Conflicting classifications of pathogenicity 0 12
drug response 0 2
not provided 5 0
Uncertain significance 15 712
Ranking
ClinVar
0
0
82
1,046
34
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 Gen
MIM 612449 OMIM
HGNC HGNC:26881 HGNC
Ensembl ENSG00000178295 Ensembl
AllianceGenome HGNC:26881
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381254.7 hg38 chr2 17,754,138 17,788,946 34,809
ENST00000317402.11 hg38 chr2 17,753,858 17,788,941 35,084
ENST00000317402.11 hg19 chr2 17,935,125 17,970,208 35,084
ENST00000381254.7 hg19 chr2 17,935,405 17,970,213 34,809
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