MTMR3 myotubularin related protein 3

Information
Symbol
MTMR3
Type
protein-coding
Description
myotubularin related protein 3
Entrez Gene ID
8897
Genome
hg19
Position
chr22:30,279,163-30,426,857
Genome
hg38
Position
chr22:29,883,174-30,030,868
MIM
603558 OMIM
HGNC
HGNC:7451 HGNC
Ensembl
ENSG00000100330 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Uncertain significance 0 108
Ranking
ClinVar
0
0
0
116
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
[No Data.]
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 FYVE-DSP1
SYNONYM ZFYVE10
MIM 603558 OMIM
HGNC HGNC:7451 HGNC
Ensembl ENSG00000100330 Ensembl
AllianceGenome HGNC:7451
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323630.9 hg38 chr22 29,883,198 30,027,858 144,661
ENST00000401950.7 hg38 chr22 29,883,174 30,030,868 147,695
ENST00000333027.7 hg38 chr22 29,883,169 30,030,866 147,698
ENST00000406629.1 hg38 chr22 29,971,051 30,026,037 54,987
ENST00000351488.7 hg38 chr22 29,883,213 30,026,495 143,283
ENST00000333027.7 hg19 chr22 30,279,158 30,426,855 147,698
ENST00000401950.7 hg19 chr22 30,279,163 30,426,857 147,695
ENST00000323630.9 hg19 chr22 30,279,187 30,423,847 144,661
ENST00000351488.7 hg19 chr22 30,279,202 30,422,484 143,283
ENST00000406629.1 hg19 chr22 30,367,040 30,422,026 54,987
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