RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase

Information
Symbol
RFFL
Type
protein-coding
Description
ring finger and FYVE like domain containing E3 ubiquitin protein ligase
Entrez Gene ID
117584
Genome
hg19
Position
chr17:33,333,009-33,416,338
Genome
hg38
Position
chr17:35,005,990-35,089,319
MIM
609735 OMIM
HGNC
HGNC:24821 HGNC
Ensembl
ENSG00000092871 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
40
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
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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 :
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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 CARP-2
SYNONYM CARP2
SYNONYM FRING
SYNONYM RIFIFYLIN
SYNONYM RNF189
SYNONYM RNF34L
MIM 609735 OMIM
HGNC HGNC:24821 HGNC
Ensembl ENSG00000092871 Ensembl
AllianceGenome HGNC:24821
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000394597.7 hg38 chr17 35,005,990 35,063,707 57,718
ENST00000415395.6 hg38 chr17 35,011,679 35,042,351 30,673
ENST00000584655.5 hg38 chr17 35,009,112 35,089,295 80,184
ENST00000315249.11 hg38 chr17 35,005,990 35,089,319 83,330
ENST00000447669.6 hg38 chr17 35,011,614 35,089,315 77,702
ENST00000413582.6 hg38 chr17 35,011,909 35,042,297 30,389
ENST00000394597.7 hg19 chr17 33,333,009 33,390,726 57,718
ENST00000315249.11 hg19 chr17 33,333,009 33,416,338 83,330
ENST00000584655.5 hg19 chr17 33,336,131 33,416,314 80,184
ENST00000447669.6 hg19 chr17 33,338,633 33,416,334 77,702
ENST00000415395.6 hg19 chr17 33,338,698 33,369,370 30,673
ENST00000413582.6 hg19 chr17 33,338,928 33,369,316 30,389
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