TCHHL1 trichohyalin like 1

Information
Symbol
TCHHL1
Type
protein-coding
Description
trichohyalin like 1
Entrez Gene ID
126637
Genome
hg19
Position
chr1:152,056,617-152,061,540
Genome
hg38
Position
chr1:152,084,141-152,089,064
HGNC
HGNC:31796 HGNC
Ensembl
ENSG00000182898 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 10
Uncertain significance 0 78
Ranking
ClinVar
0
0
2
94
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 :
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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 S100A17
SYNONYM THHL1
HGNC HGNC:31796 HGNC
Ensembl ENSG00000182898 Ensembl
AllianceGenome HGNC:31796
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368806.2 hg38 chr1 152,084,141 152,089,064 4,924
ENST00000368806.2 hg19 chr1 152,056,617 152,061,540 4,924
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