LBHD1 LBH domain containing 1

Information
Symbol
LBHD1
Type
protein-coding
Description
LBH domain containing 1
Entrez Gene ID
79081
Genome
hg19
Position
chr11:62,430,290-62,439,237
Genome
hg38
Position
chr11:62,662,818-62,671,765
HGNC
HGNC:28351 HGNC
Ensembl
ENSG00000162194 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 14
Likely benign 0 22
not provided 1 0
Uncertain significance 0 72
Ranking
ClinVar
0
0
10
96
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
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 C11orf48
HGNC HGNC:28351 HGNC
Ensembl ENSG00000162194 Ensembl
AllianceGenome HGNC:28351
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000431002.6 hg38 chr11 62,662,818 62,671,765 8,948
ENST00000354588.8 hg38 chr11 62,662,817 62,672,267 9,451
ENST00000532208.5 hg38 chr11 62,662,848 62,671,540 8,693
ENST00000354588.8 hg19 chr11 62,430,289 62,439,739 9,451
ENST00000431002.6 hg19 chr11 62,430,290 62,439,237 8,948
ENST00000532208.5 hg19 chr11 62,430,320 62,439,012 8,693
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