RXYLT1 ribitol xylosyltransferase 1

Information
Symbol
RXYLT1
Type
protein-coding
Description
ribitol xylosyltransferase 1
Entrez Gene ID
10329
Genome
hg19
Position
chr12:64,173,689-64,203,342
Genome
hg38
Position
chr12:63,779,909-63,809,562
MIM
605862 OMIM
HGNC
HGNC:13530 HGNC
Ensembl
ENSG00000118600 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 82
Likely pathogenic 0 32
Benign 0 30
Likely benign 0 354
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 282
Ranking
ClinVar
0
0
110
648
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
Category :
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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 HP10481
SYNONYM MDDGA10
SYNONYM TMEM5
MIM 605862 OMIM
HGNC HGNC:13530 HGNC
Ensembl ENSG00000118600 Ensembl
AllianceGenome HGNC:13530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261234.11 hg38 chr12 63,779,909 63,809,562 29,654
ENST00000261234.11 hg19 chr12 64,173,689 64,203,342 29,654
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