LEMD3 LEM domain containing 3

Information
Symbol
LEMD3
Type
protein-coding
Description
LEM domain containing 3
Entrez Gene ID
23592
Genome
hg19
Position
chr12:65,563,363-65,642,135
Genome
hg38
Position
chr12:65,169,583-65,248,355
MIM
607844 OMIM
HGNC
HGNC:28887 HGNC
Ensembl
ENSG00000174106 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 72
Likely pathogenic 0 22
Benign 12 92
Likely benign 0 350
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 656
Ranking
ClinVar
0
0
124
1,040
14
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 MAN1
MIM 607844 OMIM
HGNC HGNC:28887 HGNC
Ensembl ENSG00000174106 Ensembl
AllianceGenome HGNC:28887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000308330.3 hg38 chr12 65,169,583 65,248,355 78,773
ENST00000308330.3 hg19 chr12 65,563,363 65,642,135 78,773
Genome browser