RMI1 RecQ mediated genome instability 1

Information
Symbol
RMI1
Type
protein-coding
Description
RecQ mediated genome instability 1
Entrez Gene ID
80010
Genome
hg19
Position
chr9:86,595,713-86,618,989
Genome
hg38
Position
chr9:83,980,798-84,004,074
MIM
610404 OMIM
HGNC
HGNC:25764 HGNC
Ensembl
ENSG00000178966 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Likely pathogenic 0 2
Benign 0 12
Likely benign 0 14
drug response 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
2
68
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 :
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 BLAP75
SYNONYM C9orf76
SYNONYM FAAP75
MIM 610404 OMIM
HGNC HGNC:25764 HGNC
Ensembl ENSG00000178966 Ensembl
AllianceGenome HGNC:25764
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000325875.7 hg38 chr9 83,980,798 84,004,074 23,277
ENST00000445877.6 hg38 chr9 83,980,805 84,004,074 23,270
ENST00000325875.7 hg19 chr9 86,595,713 86,618,989 23,277
ENST00000445877.6 hg19 chr9 86,595,720 86,618,989 23,270
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