LRRC8E leucine rich repeat containing 8 VRAC subunit E

Information
Symbol
LRRC8E
Type
protein-coding
Description
leucine rich repeat containing 8 VRAC subunit E
Entrez Gene ID
80131
Genome
hg19
Position
chr19:7,953,395-7,966,901
Genome
hg38
Position
chr19:7,888,510-7,902,016
MIM
612891 OMIM
HGNC
HGNC:26272 HGNC
Ensembl
ENSG00000171017 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
Uncertain significance 0 124
Ranking
ClinVar
0
0
0
132
2
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 612891 OMIM
HGNC HGNC:26272 HGNC
Ensembl ENSG00000171017 Ensembl
AllianceGenome HGNC:26272
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000618098.4 hg38 chr19 7,888,505 7,902,021 13,517
ENST00000306708.11 hg38 chr19 7,888,510 7,902,016 13,507
ENST00000618098.4 hg19 chr19 7,953,390 7,966,906 13,517
ENST00000306708.11 hg19 chr19 7,953,395 7,966,901 13,507
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