R3HCC1 R3H domain and coiled-coil containing 1

Information
Symbol
R3HCC1
Type
protein-coding
Description
R3H domain and coiled-coil containing 1
Entrez Gene ID
203069
Genome
hg19
Position
chr8:23,145,621-23,153,792
Genome
hg38
Position
chr8:23,288,108-23,296,279
HGNC
HGNC:27329 HGNC
Ensembl
ENSG00000104679 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
38
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 :
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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
HGNC HGNC:27329 HGNC
Ensembl ENSG00000104679 Ensembl
AllianceGenome HGNC:27329
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265806.12 hg38 chr8 23,288,108 23,296,279 8,172
ENST00000411463.2 hg38 chr8 23,287,929 23,296,121 8,193
ENST00000625275.3 hg38 chr8 23,287,908 23,296,121 8,214
ENST00000625275.3 hg19 chr8 23,145,421 23,153,634 8,214
ENST00000411463.2 hg19 chr8 23,145,442 23,153,634 8,193
ENST00000265806.12 hg19 chr8 23,145,621 23,153,792 8,172
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