RECQL RecQ like helicase

Information
Symbol
RECQL
Type
protein-coding
Description
RecQ like helicase
Entrez Gene ID
5965
Genome
hg19
Position
chr12:21,621,844-21,654,569
Genome
hg38
Position
chr12:21,468,910-21,501,635
MIM
600537 OMIM
HGNC
HGNC:9948 HGNC
Ensembl
ENSG00000004700 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 18
Benign 0 164
Likely benign 3 722
Conflicting classifications of pathogenicity 0 92
Uncertain significance 0 1,856
Ranking
ClinVar
0
0
772
1,962
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
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 RECON
SYNONYM RECQL1
SYNONYM RecQ1
MIM 600537 OMIM
HGNC HGNC:9948 HGNC
Ensembl ENSG00000004700 Ensembl
AllianceGenome HGNC:9948
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000444129.7 hg38 chr12 21,468,910 21,501,635 32,726
ENST00000421138.6 hg38 chr12 21,469,802 21,501,551 31,750
ENST00000444129.7 hg19 chr12 21,621,844 21,654,569 32,726
ENST00000421138.6 hg19 chr12 21,622,736 21,654,485 31,750
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