GH1 growth hormone 1

Information
Symbol
GH1
Type
protein-coding
Description
growth hormone 1
Entrez Gene ID
2688
Genome
hg19
Position
chr17:61,994,563-61,996,199
Genome
hg38
Position
chr17:63,917,203-63,918,839
MIM
139250 OMIM
HGNC
HGNC:4261 HGNC
Ensembl
ENSG00000259384 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 42
Likely pathogenic 0 10
Benign 12 26
Likely benign 0 72
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 124
Ranking
ClinVar
0
0
64
164
30
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 :
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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 GH
SYNONYM GH-N
SYNONYM GHB5
SYNONYM GHN
SYNONYM IGHD1A
SYNONYM IGHD1B
SYNONYM IGHD2
SYNONYM hGH-N
MIM 139250 OMIM
HGNC HGNC:4261 HGNC
Ensembl ENSG00000259384 Ensembl
AllianceGenome HGNC:4261
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000458650.6 hg38 chr17 63,917,203 63,918,817 1,615
ENST00000323322.10 hg38 chr17 63,917,203 63,918,839 1,637
ENST00000351388.8 hg38 chr17 63,917,200 63,918,818 1,619
ENST00000342364.8 hg38 chr17 63,917,203 63,918,838 1,636
ENST00000617086.1 hg38 chr17 63,917,203 63,918,838 1,636
ENST00000351388.8 hg19 chr17 61,994,560 61,996,178 1,619
ENST00000458650.6 hg19 chr17 61,994,563 61,996,177 1,615
ENST00000342364.8 hg19 chr17 61,994,563 61,996,198 1,636
ENST00000617086.1 hg19 chr17 61,994,563 61,996,198 1,636
ENST00000323322.10 hg19 chr17 61,994,563 61,996,199 1,637
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