GHSR growth hormone secretagogue receptor

Information
Symbol
GHSR
Type
protein-coding
Description
growth hormone secretagogue receptor
Entrez Gene ID
2693
Genome
hg19
Position
chr3:172,161,081-172,166,246
Genome
hg38
Position
chr3:172,443,291-172,448,456
MIM
601898 OMIM
HGNC
HGNC:4267 HGNC
Ensembl
ENSG00000121853 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 1 0
Benign 0 50
Likely benign 0 98
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 266
Ranking
ClinVar
0
0
52
352
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 GHDP
SYNONYM GHS-R1a
SYNONYM GHSR-1a
MIM 601898 OMIM
HGNC HGNC:4267 HGNC
Ensembl ENSG00000121853 Ensembl
AllianceGenome HGNC:4267
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000427970.1 hg38 chr3 172,447,544 172,448,455 912
ENST00000241256.3 hg38 chr3 172,443,291 172,448,456 5,166
ENST00000241256.3 hg19 chr3 172,161,081 172,166,246 5,166
ENST00000427970.1 hg19 chr3 172,165,334 172,166,245 912
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