TPI1 triosephosphate isomerase 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 8 |
| Benign | 6 | 32 |
| Likely benign | 0 | 98 |
| Conflicting classifications of pathogenicity | 0 | 22 |
| Uncertain significance | 0 | 118 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
40 |
 |
212 |
 |
12 |
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 | |||||||||||
Search Word
| Target data | : |
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 | HEL-S-49 |
| SYNONYM | TIM |
| SYNONYM | TPI |
| SYNONYM | TPID |
| MIM | 190450 OMIM |
| HGNC | HGNC:12009 HGNC |
| Ensembl | ENSG00000111669 Ensembl |
| AllianceGenome | HGNC:12009 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000396705.10 | hg38 | chr12 | 6,867,531 | 6,870,948 | 3,418 |
| ENST00000488464.6 | hg38 | chr12 | 6,868,100 | 6,870,383 | 2,284 |
| ENST00000613953.4 | hg38 | chr12 | 6,867,420 | 6,870,946 | 3,527 |
| ENST00000229270.8 | hg38 | chr12 | 6,867,119 | 6,870,948 | 3,830 |
| ENST00000535434.5 | hg38 | chr12 | 6,868,114 | 6,870,939 | 2,826 |
| ENST00000229270.8 | hg19 | chr12 | 6,976,283 | 6,980,112 | 3,830 |
| ENST00000613953.4 | hg19 | chr12 | 6,976,584 | 6,980,110 | 3,527 |
| ENST00000396705.10 | hg19 | chr12 | 6,976,695 | 6,980,112 | 3,418 |
| ENST00000488464.6 | hg19 | chr12 | 6,977,264 | 6,979,547 | 2,284 |
| ENST00000535434.5 | hg19 | chr12 | 6,977,278 | 6,980,103 | 2,826 |
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