UBIAD1 UbiA prenyltransferase domain containing 1

Information
Symbol
UBIAD1
Type
protein-coding
Description
UbiA prenyltransferase domain containing 1
Entrez Gene ID
29914
Genome
hg19
Position
chr1:11,333,255-11,348,491
Genome
hg38
Position
chr1:11,273,198-11,288,434
MIM
611632 OMIM
HGNC
HGNC:30791 HGNC
Ensembl
ENSG00000120942 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 2
Benign 2 54
Likely benign 0 12
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 136
Ranking
ClinVar
0
0
8
190
24
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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
SYNONYM SCCD
SYNONYM TERE1
MIM 611632 OMIM
HGNC HGNC:30791 HGNC
Ensembl ENSG00000120942 Ensembl
AllianceGenome HGNC:30791
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376810.6 hg38 chr1 11,273,198 11,288,434 15,237
ENST00000376804.2 hg38 chr1 11,273,528 11,295,164 21,637
ENST00000376810.6 hg19 chr1 11,333,255 11,348,491 15,237
ENST00000376804.2 hg19 chr1 11,333,585 11,355,221 21,637
Genome browser