MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator

Information
Symbol
MAMSTR
Type
protein-coding
Description
MEF2 activating motif and SAP domain containing transcriptional regulator
Entrez Gene ID
284358
Genome
hg19
Position
chr19:49,215,982-49,222,982
Genome
hg38
Position
chr19:48,712,725-48,719,725
MIM
610349 OMIM
HGNC
HGNC:26689 HGNC
Ensembl
ENSG00000176909 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
68
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 MASTR
MIM 610349 OMIM
HGNC HGNC:26689 HGNC
Ensembl ENSG00000176909 Ensembl
AllianceGenome HGNC:26689
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000356751.8 hg38 chr19 48,712,996 48,716,957 3,962
ENST00000318083.11 hg38 chr19 48,712,725 48,719,725 7,001
ENST00000594582.1 hg38 chr19 48,712,997 48,717,021 4,025
ENST00000318083.11 hg19 chr19 49,215,982 49,222,982 7,001
ENST00000356751.8 hg19 chr19 49,216,253 49,220,214 3,962
ENST00000594582.1 hg19 chr19 49,216,254 49,220,278 4,025
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