TGM6 transglutaminase 6

Information
Symbol
TGM6
Type
protein-coding
Description
transglutaminase 6
Entrez Gene ID
343641
Genome
hg19
Position
chr20:2,361,547-2,413,399
Genome
hg38
Position
chr20:2,380,901-2,432,753
MIM
613900 OMIM
HGNC
HGNC:16255 HGNC
Ensembl
ENSG00000166948 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 8
Benign 0 210
Likely benign 0 228
Conflicting classifications of pathogenicity 0 68
Uncertain significance 0 382
Ranking
ClinVar
0
0
198
572
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
[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 SCA35
SYNONYM TG6
SYNONYM TGM3L
SYNONYM TGY
SYNONYM dJ734P14.3
MIM 613900 OMIM
HGNC HGNC:16255 HGNC
Ensembl ENSG00000166948 Ensembl
AllianceGenome HGNC:16255
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000202625.7 hg38 chr20 2,380,901 2,432,753 51,853
ENST00000381423.1 hg38 chr20 2,380,908 2,432,753 51,846
ENST00000202625.7 hg19 chr20 2,361,547 2,413,399 51,853
ENST00000381423.1 hg19 chr20 2,361,554 2,413,399 51,846
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