ILVBL ilvB acetolactate synthase like

Information
Symbol
ILVBL
Type
protein-coding
Description
ilvB acetolactate synthase like
Entrez Gene ID
10994
Genome
hg19
Position
chr19:15,225,798-15,236,597
Genome
hg38
Position
chr19:15,114,987-15,125,786
MIM
605770 OMIM
HGNC
HGNC:6041 HGNC
Ensembl
ENSG00000105135 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 14
Uncertain significance 0 82
Ranking
ClinVar
0
0
0
104
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 :
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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 :
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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 209L8
SYNONYM AHAS
SYNONYM HACL1L
SYNONYM HACL2
SYNONYM ILV2H
MIM 605770 OMIM
HGNC HGNC:6041 HGNC
Ensembl ENSG00000105135 Ensembl
AllianceGenome HGNC:6041
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263383.8 hg38 chr19 15,114,987 15,125,786 10,800
ENST00000534378.5 hg38 chr19 15,115,016 15,125,722 10,707
ENST00000263383.8 hg19 chr19 15,225,798 15,236,597 10,800
ENST00000534378.5 hg19 chr19 15,225,827 15,236,533 10,707
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