MTMR8 myotubularin related protein 8

Information
Symbol
MTMR8
Type
protein-coding
Description
myotubularin related protein 8
Entrez Gene ID
55613
Genome
hg19
Position
chrX:63,487,961-63,615,332
Genome
hg38
Position
chrX:64,268,081-64,395,452
MIM
301061 OMIM
HGNC
HGNC:16825 HGNC
Ensembl
ENSG00000102043 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 26
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 78
Ranking
ClinVar
0
0
0
104
6
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
MIM 301061 OMIM
HGNC HGNC:16825 HGNC
Ensembl ENSG00000102043 Ensembl
AllianceGenome HGNC:16825
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374852.4 hg38 chrX 64,268,081 64,395,452 127,372
ENST00000374852.4 hg19 chrX 63,487,961 63,615,332 127,372
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