SHH sonic hedgehog signaling molecule

Information
Symbol
SHH
Type
protein-coding
Description
sonic hedgehog signaling molecule
Entrez Gene ID
6469
Genome
hg19
Position
chr7:155,592,674-155,605,157
Genome
hg38
Position
chr7:155,799,980-155,812,463
MIM
600725 OMIM
HGNC
HGNC:10848 HGNC
Ensembl
ENSG00000164690 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 92
Likely pathogenic 0 44
Benign 2 50
Likely benign 0 170
Conflicting classifications of pathogenicity 0 22
not provided 1 0
Uncertain significance 0 280
Ranking
ClinVar
0
0
74
482
64
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 HHG1
SYNONYM HLP3
SYNONYM HPE3
SYNONYM MCOPCB5
SYNONYM SMMCI
SYNONYM ShhNC
SYNONYM TPT
SYNONYM TPTPS
MIM 600725 OMIM
HGNC HGNC:10848 HGNC
Ensembl ENSG00000164690 Ensembl
AllianceGenome HGNC:10848
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297261.7 hg38 chr7 155,799,980 155,812,463 12,484
ENST00000297261.7 hg19 chr7 155,592,674 155,605,157 12,484
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