LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3

Information
Symbol
LRIT3
Type
protein-coding
Description
leucine rich repeat, Ig-like and transmembrane domains 3
Entrez Gene ID
345193
Genome
hg19
Position
chr4:110,769,263-110,793,471
Genome
hg38
Position
chr4:109,848,107-109,872,315
MIM
615004 OMIM
HGNC
HGNC:24783 HGNC
Ensembl
ENSG00000183423 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 62
Likely benign 0 236
Conflicting classifications of pathogenicity 0 36
Uncertain significance 0 474
Ranking
ClinVar
0
0
106
654
4
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 CSNB1F
SYNONYM FIGLER4
MIM 615004 OMIM
HGNC HGNC:24783 HGNC
Ensembl ENSG00000183423 Ensembl
AllianceGenome HGNC:24783
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327908.3 hg38 chr4 109,851,330 109,872,315 20,986
ENST00000594814.6 hg38 chr4 109,848,107 109,872,315 24,209
ENST00000594814.6 hg19 chr4 110,769,263 110,793,471 24,209
ENST00000327908.3 hg19 chr4 110,772,486 110,793,471 20,986
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