LCAT lecithin-cholesterol acyltransferase

Information
Symbol
LCAT
Type
protein-coding
Description
lecithin-cholesterol acyltransferase
Entrez Gene ID
3931
Genome
hg19
Position
chr16:67,973,653-67,978,023
Genome
hg38
Position
chr16:67,939,750-67,944,120
MIM
606967 OMIM
HGNC
HGNC:6522 HGNC
Ensembl
ENSG00000213398 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 42
Likely pathogenic 0 14
Benign 0 18
Likely benign 0 184
Conflicting classifications of pathogenicity 0 24
no classification for the single variant 0 4
Uncertain significance 0 156
Ranking
ClinVar
0
0
74
312
22
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
MIM 606967 OMIM
HGNC HGNC:6522 HGNC
Ensembl ENSG00000213398 Ensembl
AllianceGenome HGNC:6522
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264005.10 hg38 chr16 67,939,750 67,944,120 4,371
ENST00000264005.10 hg19 chr16 67,973,653 67,978,023 4,371
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