MACC1 MET transcriptional regulator MACC1

Information
Symbol
MACC1
Type
protein-coding
Description
MET transcriptional regulator MACC1
Entrez Gene ID
346389
Genome
hg19
Position
chr7:20,174,278-20,257,007
Genome
hg38
Position
chr7:20,134,655-20,217,384
MIM
612646 OMIM
HGNC
HGNC:30215 HGNC
Ensembl
ENSG00000183742 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 90
Ranking
ClinVar
0
0
0
92
0
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 7A5
SYNONYM SH3BP4L
MIM 612646 OMIM
HGNC HGNC:30215 HGNC
Ensembl ENSG00000183742 Ensembl
AllianceGenome HGNC:30215
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000589011.1 hg38 chr7 20,140,917 20,185,078 44,162
ENST00000332878.8 hg38 chr7 20,140,625 20,217,404 76,780
ENST00000400331.10 hg38 chr7 20,134,655 20,217,384 82,730
ENST00000400331.10 hg19 chr7 20,174,278 20,257,007 82,730
ENST00000332878.8 hg19 chr7 20,180,248 20,257,027 76,780
ENST00000589011.1 hg19 chr7 20,180,540 20,224,701 44,162
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