LEP leptin

Information
Symbol
LEP
Type
protein-coding
Description
leptin
Entrez Gene ID
3952
Genome
hg19
Position
chr7:127,881,331-127,897,682
Genome
hg38
Position
chr7:128,241,278-128,257,629
MIM
164160 OMIM
HGNC
HGNC:6553 HGNC
Ensembl
ENSG00000174697 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 12
Likely pathogenic 0 4
Benign 0 24
Likely benign 0 56
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 132
Ranking
ClinVar
0
0
22
188
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
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 LEPD
SYNONYM OB
SYNONYM OBS
MIM 164160 OMIM
HGNC HGNC:6553 HGNC
Ensembl ENSG00000174697 Ensembl
AllianceGenome HGNC:6553
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000308868.5 hg38 chr7 128,241,278 128,257,629 16,352
ENST00000308868.5 hg19 chr7 127,881,331 127,897,682 16,352
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