ABHD1 abhydrolase domain containing 1

Information
Symbol
ABHD1
Type
protein-coding
Description
abhydrolase domain containing 1
Entrez Gene ID
84696
Genome
hg19
Position
chr2:27,346,683-27,353,680
Genome
hg38
Position
chr2:27,123,815-27,130,812
MIM
612195 OMIM
HGNC
HGNC:17553 HGNC
Ensembl
ENSG00000143994 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
54
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
SYNONYM LABH1
MIM 612195 OMIM
HGNC HGNC:17553 HGNC
Ensembl ENSG00000143994 Ensembl
AllianceGenome HGNC:17553
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316470.9 hg38 chr2 27,123,815 27,130,812 6,998
ENST00000621324.4 hg38 chr2 27,123,789 27,130,353 6,565
ENST00000621324.4 hg19 chr2 27,346,657 27,353,221 6,565
ENST00000316470.9 hg19 chr2 27,346,683 27,353,680 6,998
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