UBAC2 UBA domain containing 2

Information
Symbol
UBAC2
Type
protein-coding
Description
UBA domain containing 2
Entrez Gene ID
337867
Genome
hg19
Position
chr13:99,853,108-100,038,758
Genome
hg38
Position
chr13:99,200,854-99,386,504
HGNC
HGNC:20486 HGNC
Ensembl
ENSG00000134882 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 10
Uncertain significance 0 100
Ranking
ClinVar
0
0
2
110
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 :
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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 PHGDHL1
HGNC HGNC:20486 HGNC
Ensembl ENSG00000134882 Ensembl
AllianceGenome HGNC:20486
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000403766.8 hg38 chr13 99,200,854 99,386,504 185,651
ENST00000376440.6 hg38 chr13 99,200,909 99,386,427 185,519
ENST00000403766.8 hg19 chr13 99,853,108 100,038,758 185,651
ENST00000376440.6 hg19 chr13 99,853,163 100,038,681 185,519
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