THAP6 THAP domain containing 6
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
26 |
 |
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
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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
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| 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
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| Category | : |
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| 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 |
|---|---|
| MIM | 612535 OMIM |
| HGNC | HGNC:23189 HGNC |
| Ensembl | ENSG00000174796 Ensembl |
| AllianceGenome | HGNC:23189 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000507557.5 | hg38 | chr4 | 75,514,444 | 75,544,440 | 29,997 |
| ENST00000507556.5 | hg38 | chr4 | 75,514,473 | 75,542,959 | 28,487 |
| ENST00000507885.5 | hg38 | chr4 | 75,514,473 | 75,544,662 | 30,190 |
| ENST00000311638.7 | hg38 | chr4 | 75,514,473 | 75,530,026 | 15,554 |
| ENST00000502620.1 | hg38 | chr4 | 75,514,479 | 75,550,473 | 35,995 |
| ENST00000504190.5 | hg38 | chr4 | 75,514,473 | 75,543,055 | 28,583 |
| ENST00000380837.7 | hg38 | chr4 | 75,514,473 | 75,530,026 | 15,554 |
| ENST00000514480.1 | hg38 | chr4 | 75,514,520 | 75,527,214 | 12,695 |
| ENST00000508105.5 | hg38 | chr4 | 75,514,473 | 75,522,582 | 8,110 |
| ENST00000507557.5 | hg19 | chr4 | 76,439,654 | 76,469,650 | 29,997 |
| ENST00000508105.5 | hg19 | chr4 | 76,439,683 | 76,447,792 | 8,110 |
| ENST00000311638.7 | hg19 | chr4 | 76,439,683 | 76,455,236 | 15,554 |
| ENST00000380837.7 | hg19 | chr4 | 76,439,683 | 76,455,236 | 15,554 |
| ENST00000507556.5 | hg19 | chr4 | 76,439,683 | 76,468,169 | 28,487 |
| ENST00000504190.5 | hg19 | chr4 | 76,439,683 | 76,468,265 | 28,583 |
| ENST00000507885.5 | hg19 | chr4 | 76,439,683 | 76,469,872 | 30,190 |
| ENST00000502620.1 | hg19 | chr4 | 76,439,689 | 76,475,683 | 35,995 |
| ENST00000514480.1 | hg19 | chr4 | 76,439,730 | 76,452,424 | 12,695 |
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