MTM1 myotubularin 1

Information
Symbol
MTM1
Type
protein-coding
Description
myotubularin 1
Entrez Gene ID
4534
Genome
hg19
Position
chrX:149,737,103-149,841,603
Genome
hg38
Position
chrX:150,568,653-150,673,130
MIM
300415 OMIM
HGNC
HGNC:7448 HGNC
Ensembl
ENSG00000171100 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 29 340
Likely pathogenic 6 138
Benign 0 145
Likely benign 0 529
Conflicting classifications of pathogenicity 0 52
not provided 6 0
Uncertain significance 0 243
Ranking
ClinVar
0
0
164
1,177
14
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 CNM
SYNONYM CNMX
SYNONYM MTMX
SYNONYM XLMTM
MIM 300415 OMIM
HGNC HGNC:7448 HGNC
Ensembl ENSG00000171100 Ensembl
AllianceGenome HGNC:7448
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000692852.1 hg38 chrX 150,568,625 150,673,102 104,478
ENST00000691686.1 hg38 chrX 150,568,611 150,673,051 104,441
ENST00000688403.1 hg38 chrX 150,568,730 150,673,102 104,373
ENST00000370396.7 hg38 chrX 150,568,621 150,673,143 104,523
ENST00000689694.1 hg38 chrX 150,568,653 150,673,130 104,478
ENST00000692015.1 hg38 chrX 150,568,622 150,673,124 104,503
ENST00000691232.1 hg38 chrX 150,568,595 150,673,118 104,524
ENST00000685944.1 hg38 chrX 150,568,417 150,673,130 104,714
ENST00000691851.1 hg38 chrX 150,568,611 150,673,043 104,433
ENST00000690282.1 hg38 chrX 150,568,677 150,673,102 104,426
ENST00000689314.1 hg38 chrX 150,568,738 150,673,118 104,381
ENST00000685439.1 hg38 chrX 150,568,744 150,673,118 104,375
ENST00000685944.1 hg19 chrX 149,736,867 149,841,603 104,737
ENST00000370396.7 hg19 chrX 149,737,071 149,841,616 104,546
ENST00000685439.1 hg19 chrX 149,737,194 149,841,591 104,398
ENST00000688403.1 hg19 chrX 149,737,180 149,841,575 104,396
ENST00000689314.1 hg19 chrX 149,737,188 149,841,591 104,404
ENST00000689694.1 hg19 chrX 149,737,103 149,841,603 104,501
ENST00000690282.1 hg19 chrX 149,737,127 149,841,575 104,449
ENST00000691232.1 hg19 chrX 149,737,045 149,841,591 104,547
ENST00000691686.1 hg19 chrX 149,737,061 149,841,524 104,464
ENST00000691851.1 hg19 chrX 149,737,061 149,841,516 104,456
ENST00000692015.1 hg19 chrX 149,737,072 149,841,597 104,526
ENST00000692852.1 hg19 chrX 149,737,075 149,841,575 104,501
Genome browser