ABHD16A abhydrolase domain containing 16A, phospholipase

Information
Symbol
ABHD16A
Type
protein-coding
Description
abhydrolase domain containing 16A, phospholipase
Entrez Gene ID
7920
Genome
hg19
Position
chr6:31,654,732-31,671,101
Genome
hg38
Position
chr6:31,686,955-31,703,324
MIM
142620 OMIM
HGNC
HGNC:13921 HGNC
Ensembl
ENSG00000204427 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 2
Likely benign 0 14
not provided 8 0
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
84
6
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 BAT5
SYNONYM D6S82E
SYNONYM NG26
SYNONYM PP199
SYNONYM SPG86
SYNONYM hBAT5
MIM 142620 OMIM
HGNC HGNC:13921 HGNC
Ensembl ENSG00000204427 Ensembl
AllianceGenome HGNC:13921
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000440843.2 hg38 chr6 31,687,186 31,703,070 15,885
ENST00000395952.8 hg38 chr6 31,686,955 31,703,324 16,370
ENST00000395952.8 hg19 chr6 31,654,732 31,671,101 16,370
ENST00000440843.2 hg19 chr6 31,654,963 31,670,847 15,885
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