TCHH trichohyalin

Information
Symbol
TCHH
Type
protein-coding
Description
trichohyalin
Entrez Gene ID
7062
Genome
hg19
Position
chr1:152,078,793-152,087,920
Genome
hg38
Position
chr1:152,106,317-152,115,444
MIM
190370 OMIM
HGNC
HGNC:11791 HGNC
Ensembl
ENSG00000159450 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 12
Likely benign 0 46
Uncertain significance 0 342
Ranking
ClinVar
0
0
2
402
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 THH
SYNONYM THL
SYNONYM TRHY
SYNONYM UHS3
MIM 190370 OMIM
HGNC HGNC:11791 HGNC
Ensembl ENSG00000159450 Ensembl
AllianceGenome HGNC:11791
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000614923.2 hg38 chr1 152,106,317 152,115,444 9,128
ENST00000614923.2 hg19 chr1 152,078,793 152,087,920 9,128
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