R3HDM2 R3H domain containing 2

Information
Symbol
R3HDM2
Type
protein-coding
Description
R3H domain containing 2
Entrez Gene ID
22864
Genome
hg19
Position
chr12:57,648,539-57,735,265
Genome
hg38
Position
chr12:57,254,756-57,341,482
MIM
619886 OMIM
HGNC
HGNC:29167 HGNC
Ensembl
ENSG00000179912 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
56
0
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 CAG6
SYNONYM PR01365
MIM 619886 OMIM
HGNC HGNC:29167 HGNC
Ensembl ENSG00000179912 Ensembl
AllianceGenome HGNC:29167
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358907.6 hg38 chr12 57,253,765 57,310,463 56,699
ENST00000403821.6 hg38 chr12 57,254,756 57,341,482 86,727
ENST00000634871.1 hg38 chr12 57,253,776 57,430,808 177,033
ENST00000347140.7 hg38 chr12 57,253,764 57,431,005 177,242
ENST00000441731.6 hg38 chr12 57,253,765 57,310,463 56,699
ENST00000402412.6 hg38 chr12 57,253,764 57,431,043 177,280
ENST00000347140.7 hg19 chr12 57,647,547 57,824,788 177,242
ENST00000402412.6 hg19 chr12 57,647,547 57,824,826 177,280
ENST00000358907.6 hg19 chr12 57,647,548 57,704,246 56,699
ENST00000441731.6 hg19 chr12 57,647,548 57,704,246 56,699
ENST00000634871.1 hg19 chr12 57,647,559 57,824,591 177,033
ENST00000403821.6 hg19 chr12 57,648,539 57,735,265 86,727
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