MATN3 matrilin 3

Information
Symbol
MATN3
Type
protein-coding
Description
matrilin 3
Entrez Gene ID
4148
Genome
hg19
Position
chr2:20,191,813-20,212,429
Genome
hg38
Position
chr2:19,992,052-20,012,668
MIM
602109 OMIM
HGNC
HGNC:6909 HGNC
Ensembl
ENSG00000132031 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 8
Benign 20 54
Likely benign 0 124
Conflicting classifications of pathogenicity 0 30
not provided 0 10
Uncertain significance 0 304
Ranking
ClinVar
0
0
78
404
8
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 DIPOA
SYNONYM EDM5
SYNONYM HOA
SYNONYM OADIP
SYNONYM OS2
SYNONYM SEMDBCD
MIM 602109 OMIM
HGNC HGNC:6909 HGNC
Ensembl ENSG00000132031 Ensembl
AllianceGenome HGNC:6909
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000421259.2 hg38 chr2 19,993,037 20,012,665 19,629
ENST00000407540.8 hg38 chr2 19,992,052 20,012,668 20,617
ENST00000407540.8 hg19 chr2 20,191,813 20,212,429 20,617
ENST00000421259.2 hg19 chr2 20,192,798 20,212,426 19,629
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