ABHD8 abhydrolase domain containing 8

Information
Symbol
ABHD8
Type
protein-coding
Description
abhydrolase domain containing 8
Entrez Gene ID
79575
Genome
hg19
Position
chr19:17,402,940-17,414,234
Genome
hg38
Position
chr19:17,292,131-17,303,425
HGNC
HGNC:23759 HGNC
Ensembl
ENSG00000127220 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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 :
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
HGNC HGNC:23759 HGNC
Ensembl ENSG00000127220 Ensembl
AllianceGenome HGNC:23759
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000247706.4 hg38 chr19 17,292,131 17,303,425 11,295
ENST00000247706.4 hg19 chr19 17,402,940 17,414,234 11,295
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