RNASEH1 ribonuclease H1

Information
Symbol
RNASEH1
Type
protein-coding
Description
ribonuclease H1
Entrez Gene ID
246243
Genome
hg19
Position
chr2:3,589,020-3,605,923
Genome
hg38
Position
chr2:3,541,430-3,558,333
MIM
604123 OMIM
HGNC
HGNC:18466 HGNC
Ensembl
ENSG00000171865 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 4
Likely pathogenic 0 6
Benign 0 44
Likely benign 0 168
Conflicting classifications of pathogenicity 0 4
not provided 0 2
Uncertain significance 0 118
Ranking
ClinVar
0
0
62
264
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 H1RNA
SYNONYM PEOB2
SYNONYM RNH1
MIM 604123 OMIM
HGNC HGNC:18466 HGNC
Ensembl ENSG00000171865 Ensembl
AllianceGenome HGNC:18466
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315212.4 hg38 chr2 3,541,430 3,558,333 16,904
ENST00000315212.4 hg19 chr2 3,589,020 3,605,923 16,904
Genome browser