RC3H1 ring finger and CCCH-type domains 1

Information
Symbol
RC3H1
Type
protein-coding
Description
ring finger and CCCH-type domains 1
Entrez Gene ID
149041
Genome
hg19
Position
chr1:173,900,222-173,991,495
Genome
hg38
Position
chr1:173,931,084-174,022,357
MIM
609424 OMIM
HGNC
HGNC:29434 HGNC
Ensembl
ENSG00000135870 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 2
Likely benign 0 6
Uncertain significance 0 90
Ranking
ClinVar
0
0
2
96
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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
SYNONYM FHL6
SYNONYM IMDSHY
SYNONYM RNF198
SYNONYM ROQUIN
MIM 609424 OMIM
HGNC HGNC:29434 HGNC
Ensembl ENSG00000135870 Ensembl
AllianceGenome HGNC:29434
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367696.7 hg38 chr1 173,931,084 174,022,357 91,274
ENST00000367694.2 hg38 chr1 173,938,411 173,993,072 54,662
ENST00000367696.7 hg19 chr1 173,900,222 173,991,495 91,274
ENST00000367694.2 hg19 chr1 173,907,549 173,962,210 54,662
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