GTF2H4 general transcription factor IIH subunit 4
Information
- Symbol
- GTF2H4
- Type
- protein-coding
- Description
- general transcription factor IIH subunit 4
- Entrez Gene ID
- 2968
- Genome
- hg19
- Position
- chr6:30,875,984-30,881,883
- Genome
- hg38
- Position
- chr6:30,908,207-30,914,106
- MIM
- 601760 OMIM
- HGNC
- HGNC:4658 HGNC
- Ensembl
- ENSG00000213780 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
not provided | 11 | 0 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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34 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
Type | ID |
---|---|
SYNONYM | P52 |
SYNONYM | TFB2 |
SYNONYM | TFIIH |
MIM | 601760 OMIM |
HGNC | HGNC:4658 HGNC |
Ensembl | ENSG00000213780 Ensembl |
AllianceGenome | HGNC:4658 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000259895.9 | hg38 | chr6 | 30,908,207 | 30,914,106 | 5,900 |
ENST00000376316.5 | hg38 | chr6 | 30,908,221 | 30,914,106 | 5,886 |
ENST00000259895.9 | hg19 | chr6 | 30,875,984 | 30,881,883 | 5,900 |
ENST00000376316.5 | hg19 | chr6 | 30,875,998 | 30,881,883 | 5,886 |
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