GTF2H3 general transcription factor IIH subunit 3

Information
Symbol
GTF2H3
Type
protein-coding
Description
general transcription factor IIH subunit 3
Entrez Gene ID
2967
Genome
hg19
Position
chr12:124,118,376-124,147,151
Genome
hg38
Position
chr12:123,633,829-123,662,604
MIM
601750 OMIM
HGNC
HGNC:4657 HGNC
Ensembl
ENSG00000111358 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
28
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 P34
SYNONYM TFB4
SYNONYM TFIIH
MIM 601750 OMIM
HGNC HGNC:4657 HGNC
Ensembl ENSG00000111358 Ensembl
AllianceGenome HGNC:4657
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000228955.11 hg38 chr12 123,633,829 123,660,829 27,001
ENST00000543341.7 hg38 chr12 123,633,829 123,662,604 28,776
ENST00000618160.4 hg38 chr12 123,633,739 123,662,603 28,865
ENST00000618160.4 hg19 chr12 124,118,286 124,147,150 28,865
ENST00000228955.11 hg19 chr12 124,118,376 124,145,376 27,001
ENST00000543341.7 hg19 chr12 124,118,376 124,147,151 28,776
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