GTF2H1 general transcription factor IIH subunit 1

Information
Symbol
GTF2H1
Type
protein-coding
Description
general transcription factor IIH subunit 1
Entrez Gene ID
2965
Genome
hg19
Position
chr11:18,344,114-18,388,592
Genome
hg38
Position
chr11:18,322,567-18,367,045
MIM
189972 OMIM
HGNC
HGNC:4655 HGNC
Ensembl
ENSG00000110768 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
54
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 BTF2
SYNONYM P62
SYNONYM TFB1
SYNONYM TFIIH
MIM 189972 OMIM
HGNC HGNC:4655 HGNC
Ensembl ENSG00000110768 Ensembl
AllianceGenome HGNC:4655
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265963.9 hg38 chr11 18,322,567 18,367,045 44,479
ENST00000530496.6 hg38 chr11 18,347,104 18,366,275 19,172
ENST00000526630.2 hg38 chr11 18,351,572 18,365,898 14,327
ENST00000534641.5 hg38 chr11 18,322,567 18,366,813 44,247
ENST00000453096.6 hg38 chr11 18,322,295 18,366,261 43,967
ENST00000524753.4 hg38 chr11 18,338,217 18,348,831 10,615
ENST00000453096.6 hg19 chr11 18,343,842 18,387,808 43,967
ENST00000534641.5 hg19 chr11 18,344,114 18,388,360 44,247
ENST00000265963.9 hg19 chr11 18,344,114 18,388,592 44,479
ENST00000524753.4 hg19 chr11 18,359,764 18,370,378 10,615
ENST00000530496.6 hg19 chr11 18,368,651 18,387,822 19,172
ENST00000526630.2 hg19 chr11 18,373,119 18,387,445 14,327
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