MBOAT7 membrane bound O-acyltransferase domain containing 7

Information
Symbol
MBOAT7
Type
protein-coding
Description
membrane bound O-acyltransferase domain containing 7
Entrez Gene ID
79143
Genome
hg19
Position
chr19:54,677,109-54,693,431
Genome
hg38
Position
chr19:54,173,415-54,189,580
MIM
606048 OMIM
HGNC
HGNC:15505 HGNC
Ensembl
ENSG00000125505 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 22
Benign 0 4
Likely benign 0 36
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 150
Ranking
ClinVar
0
0
24
194
10
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 BB1
SYNONYM LENG4
SYNONYM LPIAT
SYNONYM LPIAT1
SYNONYM LPLAT
SYNONYM LPLAT11
SYNONYM LRC4
SYNONYM MBOA7
SYNONYM MRT57
SYNONYM OACT7
SYNONYM hMBOA-7
MIM 606048 OMIM
HGNC HGNC:15505 HGNC
Ensembl ENSG00000125505 Ensembl
AllianceGenome HGNC:15505
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000245615.6 hg38 chr19 54,173,415 54,189,580 16,166
ENST00000391754.5 hg38 chr19 54,178,337 54,189,672 11,336
ENST00000338624.10 hg38 chr19 54,173,415 54,189,568 16,154
ENST00000431666.6 hg38 chr19 54,173,413 54,189,882 16,470
ENST00000431666.6 hg19 chr19 54,677,107 54,693,733 16,627
ENST00000338624.10 hg19 chr19 54,677,109 54,693,419 16,311
ENST00000245615.6 hg19 chr19 54,677,109 54,693,431 16,323
ENST00000391754.5 hg19 chr19 54,682,054 54,693,523 11,470
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