LRTOMT leucine rich transmembrane and O-methyltransferase domain containing

Information
Symbol
LRTOMT
Type
protein-coding
Description
leucine rich transmembrane and O-methyltransferase domain containing
Entrez Gene ID
220074
Genome
hg19
Position
chr11:71,791,377-71,821,823
Genome
hg38
Position
chr11:72,080,331-72,110,777
MIM
612414 OMIM
HGNC
HGNC:25033 HGNC
Ensembl
ENSG00000284922 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 20
Likely pathogenic 0 8
Benign 0 32
Likely benign 0 90
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 258
Ranking
ClinVar
0
0
60
336
8
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 CFAP111
SYNONYM DFNB63
SYNONYM LRRC51
SYNONYM LRRC51-TOMT
SYNONYM TOMT
MIM 612414 OMIM
HGNC HGNC:25033 HGNC
Ensembl ENSG00000284922 Ensembl
AllianceGenome HGNC:25033
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000643715.1 hg38 chr11 72,080,845 72,109,032 28,188
ENST00000307198.11 hg38 chr11 72,080,331 72,110,777 30,447
ENST00000439209.5 hg38 chr11 72,080,859 72,108,802 27,944
ENST00000307198.11 hg19 chr11 71,791,377 71,821,823 30,447
ENST00000643715.1 hg19 chr11 71,791,891 71,820,078 28,188
ENST00000439209.5 hg19 chr11 71,791,905 71,819,848 27,944
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