PTTG1IP PTTG1 interacting protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
16 |
 |
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 | |||||||||||
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 |
|---|---|
| SYNONYM | C21orf1 |
| SYNONYM | C21orf3 |
| SYNONYM | PBF |
| SYNONYM | PTTG1IP1 |
| MIM | 603784 OMIM |
| HGNC | HGNC:13524 HGNC |
| Ensembl | ENSG00000183255 Ensembl |
| AllianceGenome | HGNC:13524 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000445724.3 | hg38 | chr21 | 44,849,586 | 44,873,903 | 24,318 |
| ENST00000330938.8 | hg38 | chr21 | 44,849,598 | 44,873,690 | 24,093 |
| ENST00000397887.7 | hg38 | chr21 | 44,849,585 | 44,873,709 | 24,125 |
| ENST00000397886.3 | hg38 | chr21 | 44,851,407 | 44,861,933 | 10,527 |
| ENST00000397887.7 | hg19 | chr21 | 46,269,500 | 46,293,624 | 24,125 |
| ENST00000445724.3 | hg19 | chr21 | 46,269,501 | 46,293,818 | 24,318 |
| ENST00000330938.8 | hg19 | chr21 | 46,269,513 | 46,293,605 | 24,093 |
| ENST00000397886.3 | hg19 | chr21 | 46,271,322 | 46,281,848 | 10,527 |
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