TYMS thymidylate synthetase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Benign | 6 | 8 |
| Likely benign | 0 | 10 |
| not provided | 5 | 0 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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42 |
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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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| 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 | |||||||||||
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MGeND data only
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| 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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| 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 | DKCD |
| SYNONYM | HST422 |
| SYNONYM | TMS |
| SYNONYM | TS |
| MIM | 188350 OMIM |
| HGNC | HGNC:12441 HGNC |
| Ensembl | ENSG00000176890 Ensembl |
| AllianceGenome | HGNC:12441 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000323250.9 | hg38 | chr18 | 657,743 | 672,997 | 15,255 |
| ENST00000323224.7 | hg38 | chr18 | 657,743 | 673,484 | 15,742 |
| ENST00000323274.15 | hg38 | chr18 | 657,653 | 673,578 | 15,926 |
| ENST00000323274.15 | hg19 | chr18 | 657,653 | 673,578 | 15,926 |
| ENST00000323250.9 | hg19 | chr18 | 657,743 | 672,997 | 15,255 |
| ENST00000323224.7 | hg19 | chr18 | 657,743 | 673,484 | 15,742 |
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