RECQL5 RecQ like helicase 5

Information
Symbol
RECQL5
Type
protein-coding
Description
RecQ like helicase 5
Entrez Gene ID
9400
Genome
hg19
Position
chr17:73,622,934-73,663,234
Genome
hg38
Position
chr17:75,626,854-75,667,154
MIM
603781 OMIM
HGNC
HGNC:9950 HGNC
Ensembl
ENSG00000108469 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 58
Likely benign 0 78
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 176
Ranking
ClinVar
0
0
30
280
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 RECQ5
MIM 603781 OMIM
HGNC HGNC:9950 HGNC
Ensembl ENSG00000108469 Ensembl
AllianceGenome HGNC:9950
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000420326.6 hg38 chr17 75,648,865 75,667,189 18,325
ENST00000340830.9 hg38 chr17 75,650,359 75,667,189 16,831
ENST00000423245.6 hg38 chr17 75,626,854 75,667,142 40,289
ENST00000584999.1 hg38 chr17 75,650,362 75,667,173 16,812
ENST00000317905.10 hg38 chr17 75,626,854 75,667,154 40,301
ENST00000423245.6 hg19 chr17 73,622,934 73,663,222 40,289
ENST00000317905.10 hg19 chr17 73,622,934 73,663,234 40,301
ENST00000340830.9 hg19 chr17 73,646,439 73,663,269 16,831
ENST00000420326.6 hg19 chr17 73,644,945 73,663,269 18,325
ENST00000584999.1 hg19 chr17 73,646,442 73,663,253 16,812
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