HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase

Information
Symbol
HMGCL
Type
protein-coding
Description
3-hydroxy-3-methylglutaryl-CoA lyase
Entrez Gene ID
3155
Genome
hg19
Position
chr1:24,128,375-24,151,919
Genome
hg38
Position
chr1:23,801,885-23,825,429
MIM
613898 OMIM
HGNC
HGNC:5005 HGNC
Ensembl
ENSG00000117305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 92
Likely pathogenic 0 94
Benign 0 28
Likely benign 0 504
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 238
Ranking
ClinVar
0
0
142
774
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 HL
SYNONYM HMGCL1
MIM 613898 OMIM
HGNC HGNC:5005 HGNC
Ensembl ENSG00000117305 Ensembl
AllianceGenome HGNC:5005
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000436439.6 hg38 chr1 23,801,887 23,825,428 23,542
ENST00000374490.8 hg38 chr1 23,801,885 23,825,429 23,545
ENST00000374490.8 hg19 chr1 24,128,375 24,151,919 23,545
ENST00000436439.6 hg19 chr1 24,128,377 24,151,918 23,542
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