MPZ myelin protein zero

Information
Symbol
MPZ
Type
protein-coding
Description
myelin protein zero
Entrez Gene ID
4359
Genome
hg19
Position
chr1:161,274,525-161,279,758
Genome
hg38
Position
chr1:161,304,735-161,309,968
MIM
159440 OMIM
HGNC
HGNC:7225 HGNC
Ensembl
ENSG00000158887 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 15 222
Likely pathogenic 0 170
Benign 2 30
Likely benign 0 186
Conflicting classifications of pathogenicity 0 98
no classification for the single variant 0 2
not provided 0 6
Uncertain significance 0 608
Ranking
ClinVar
0
0
250
738
160
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 CHM
SYNONYM CHN2
SYNONYM CMT1
SYNONYM CMT1B
SYNONYM CMT2I
SYNONYM CMT2J
SYNONYM CMT4E
SYNONYM CMTDI3
SYNONYM CMTDID
SYNONYM DSS
SYNONYM HMSNIB
SYNONYM MPP
SYNONYM P0
MIM 159440 OMIM
HGNC HGNC:7225 HGNC
Ensembl ENSG00000158887 Ensembl
AllianceGenome HGNC:7225
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000672287.2 hg38 chr1 161,304,779 161,307,471 2,693
ENST00000533357.5 hg38 chr1 161,304,735 161,309,968 5,234
ENST00000672602.2 hg38 chr1 161,304,735 161,309,968 5,234
ENST00000526189.3 hg38 chr1 161,305,329 161,309,968 4,640
ENST00000491222.5 hg38 chr1 161,304,779 161,307,471 2,693
ENST00000533357.5 hg19 chr1 161,274,525 161,279,758 5,234
ENST00000672602.2 hg19 chr1 161,274,525 161,279,758 5,234
ENST00000491222.5 hg19 chr1 161,274,569 161,277,261 2,693
ENST00000672287.2 hg19 chr1 161,274,569 161,277,261 2,693
ENST00000526189.3 hg19 chr1 161,275,119 161,279,758 4,640
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