LMBR1L limb development membrane protein 1 like

Information
Symbol
LMBR1L
Type
protein-coding
Description
limb development membrane protein 1 like
Entrez Gene ID
55716
Genome
hg19
Position
chr12:49,490,922-49,504,630
Genome
hg38
Position
chr12:49,097,139-49,110,847
MIM
610007 OMIM
HGNC
HGNC:18268 HGNC
Ensembl
ENSG00000139636 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
54
6
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 LIMR
MIM 610007 OMIM
HGNC HGNC:18268 HGNC
Ensembl ENSG00000139636 Ensembl
AllianceGenome HGNC:18268
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000267102.13 hg38 chr12 49,097,139 49,110,847 13,709
ENST00000547382.5 hg38 chr12 49,097,142 49,110,850 13,709
ENST00000267102.13 hg19 chr12 49,490,922 49,504,630 13,709
ENST00000547382.5 hg19 chr12 49,490,925 49,504,633 13,709
Genome browser