MPP1 MAGUK p55 scaffold protein 1

Information
Symbol
MPP1
Type
protein-coding
Description
MAGUK p55 scaffold protein 1
Entrez Gene ID
4354
Genome
hg19
Position
chrX:154,006,959-154,033,760
Genome
hg38
Position
chrX:154,778,684-154,805,485
MIM
305360 OMIM
HGNC
HGNC:7219 HGNC
Ensembl
ENSG00000130830 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
not provided 6 0
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
38
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
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 AAG12
SYNONYM DXS552E
SYNONYM EMP55
SYNONYM MRG1
SYNONYM PEMP
MIM 305360 OMIM
HGNC HGNC:7219 HGNC
Ensembl ENSG00000130830 Ensembl
AllianceGenome HGNC:7219
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000413259.7 hg38 chrX 154,778,686 154,805,527 26,842
ENST00000369534.8 hg38 chrX 154,778,684 154,805,485 26,802
ENST00000393531.5 hg38 chrX 154,779,153 154,805,397 26,245
ENST00000369534.8 hg19 chrX 154,006,959 154,033,760 26,802
ENST00000393531.5 hg19 chrX 154,007,428 154,033,672 26,245
ENST00000413259.7 hg19 chrX 154,006,961 154,033,802 26,842
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