AWAT1 acyl-CoA wax alcohol acyltransferase 1

Information
Symbol
AWAT1
Type
protein-coding
Description
acyl-CoA wax alcohol acyltransferase 1
Entrez Gene ID
158833
Genome
hg19
Position
chrX:69,454,505-69,460,509
Genome
hg38
Position
chrX:70,234,655-70,240,659
MIM
300924 OMIM
HGNC
HGNC:23252 HGNC
Ensembl
ENSG00000204195 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
30
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
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 DGA2
SYNONYM DGAT2L3
MIM 300924 OMIM
HGNC HGNC:23252 HGNC
Ensembl ENSG00000204195 Ensembl
AllianceGenome HGNC:23252
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374521.4 hg38 chrX 70,234,655 70,240,659 6,005
ENST00000374521.4 hg19 chrX 69,454,505 69,460,509 6,005
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