ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase

Information
Symbol
ERCC6L
Type
protein-coding
Description
ERCC excision repair 6 like, spindle assembly checkpoint helicase
Entrez Gene ID
54821
Genome
hg19
Position
chrX:71,424,515-71,458,877
Genome
hg38
Position
chrX:72,204,665-72,239,027
MIM
300687 OMIM
HGNC
HGNC:20794 HGNC
Ensembl
ENSG00000186871 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 10
not provided 6 0
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
62
4
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 :
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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 PICH
SYNONYM RAD26L
MIM 300687 OMIM
HGNC HGNC:20794 HGNC
Ensembl ENSG00000186871 Ensembl
AllianceGenome HGNC:20794
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000334463.4 hg38 chrX 72,204,665 72,239,027 34,363
ENST00000373657.2 hg38 chrX 72,204,657 72,239,027 34,371
ENST00000373657.2 hg19 chrX 71,424,507 71,458,877 34,371
ENST00000334463.4 hg19 chrX 71,424,515 71,458,877 34,363
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