MPZL2 myelin protein zero like 2

Information
Symbol
MPZL2
Type
protein-coding
Description
myelin protein zero like 2
Entrez Gene ID
10205
Genome
hg19
Position
chr11:118,124,131-118,135,012
Genome
hg38
Position
chr11:118,253,416-118,264,297
MIM
604873 OMIM
HGNC
HGNC:3496 HGNC
Ensembl
ENSG00000149573 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 20
Benign 0 12
Likely benign 0 14
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 24
Ranking
ClinVar
0
0
14
60
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 DFNB111
SYNONYM EVA
SYNONYM EVA1
MIM 604873 OMIM
HGNC HGNC:3496 HGNC
Ensembl ENSG00000149573 Ensembl
AllianceGenome HGNC:3496
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000278937.7 hg38 chr11 118,253,416 118,264,297 10,882
ENST00000438295.2 hg38 chr11 118,256,911 118,264,536 7,626
ENST00000278937.7 hg19 chr11 118,124,131 118,135,012 10,882
ENST00000438295.2 hg19 chr11 118,127,626 118,135,251 7,626
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