TYMP thymidine phosphorylase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 228 |
Likely pathogenic | 0 | 120 |
Benign | 0 | 86 |
Likely benign | 0 | 1,018 |
Conflicting classifications of pathogenicity | 0 | 82 |
not provided | 1 | 0 |
Uncertain significance | 0 | 356 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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196 |
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1,462 |
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94 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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Variants
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | ECGF |
SYNONYM | ECGF1 |
SYNONYM | MEDPS1 |
SYNONYM | MNGIE |
SYNONYM | MTDPS1 |
SYNONYM | PDECGF |
SYNONYM | TP |
SYNONYM | hPD-ECGF |
MIM | 131222 OMIM |
HGNC | HGNC:3148 HGNC |
Ensembl | ENSG00000025708 Ensembl |
AllianceGenome | HGNC:3148 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000395680.6 | hg38 | chr22 | 50,525,752 | 50,530,012 | 4,261 |
ENST00000395681.6 | hg38 | chr22 | 50,525,752 | 50,530,012 | 4,261 |
ENST00000252029.8 | hg38 | chr22 | 50,525,752 | 50,530,012 | 4,261 |
ENST00000487577.5 | hg38 | chr22 | 50,525,755 | 50,529,996 | 4,242 |
ENST00000395678.7 | hg38 | chr22 | 50,525,756 | 50,530,032 | 4,277 |
ENST00000252029.8 | hg19 | chr22 | 50,964,181 | 50,968,441 | 4,261 |
ENST00000395680.6 | hg19 | chr22 | 50,964,181 | 50,968,441 | 4,261 |
ENST00000395681.6 | hg19 | chr22 | 50,964,181 | 50,968,441 | 4,261 |
ENST00000487577.5 | hg19 | chr22 | 50,964,184 | 50,968,425 | 4,242 |
ENST00000395678.7 | hg19 | chr22 | 50,964,185 | 50,968,461 | 4,277 |
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