SMAD7 SMAD family member 7

Information
Symbol
SMAD7
Type
protein-coding
Description
SMAD family member 7
Entrez Gene ID
4092
Genome
hg19
Position
chr18:46,446,223-46,477,335
Genome
hg38
Position
chr18:48,919,853-48,950,965
MIM
602932 OMIM
HGNC
HGNC:6773 HGNC
Ensembl
ENSG00000101665 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 20
Uncertain significance 0 56
Ranking
ClinVar
0
0
4
82
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
[No Data.]
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 CRCS3
SYNONYM MADH7
SYNONYM MADH8
MIM 602932 OMIM
HGNC HGNC:6773 HGNC
Ensembl ENSG00000101665 Ensembl
AllianceGenome HGNC:6773
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000589634.1 hg38 chr18 48,921,372 48,950,424 29,053
ENST00000262158.8 hg38 chr18 48,919,853 48,950,965 31,113
ENST00000591805.5 hg38 chr18 48,920,993 48,949,333 28,341
ENST00000262158.8 hg19 chr18 46,446,223 46,477,335 31,113
ENST00000591805.5 hg19 chr18 46,447,363 46,475,703 28,341
ENST00000589634.1 hg19 chr18 46,447,742 46,476,794 29,053
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