RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Information
Symbol
RFNG
Type
protein-coding
Description
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Entrez Gene ID
5986
Genome
hg19
Position
chr17:80,005,778-80,009,687
Genome
hg38
Position
chr17:82,047,902-82,051,811
MIM
602578 OMIM
HGNC
HGNC:9974 HGNC
Ensembl
ENSG00000169733 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 14
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
58
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
MIM 602578 OMIM
HGNC HGNC:9974 HGNC
Ensembl ENSG00000169733 Ensembl
AllianceGenome HGNC:9974
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000429557.7 hg38 chr17 82,048,553 82,051,434 2,882
ENST00000310496.9 hg38 chr17 82,047,902 82,051,811 3,910
ENST00000310496.9 hg19 chr17 80,005,778 80,009,687 3,910
ENST00000429557.7 hg19 chr17 80,006,429 80,009,310 2,882
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