PRRT2 proline rich transmembrane protein 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 194 |
| Likely pathogenic | 0 | 60 |
| Benign | 0 | 40 |
| Likely benign | 0 | 328 |
| Conflicting classifications of pathogenicity | 0 | 82 |
| not provided | 9 | 2 |
| Uncertain significance | 0 | 502 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
226 |
 |
842 |
 |
14 |
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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| Category | : |
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| Filtering | : |
| 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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| Category | : |
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| Search word | : | |
| 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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| Search word | : | |
| 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 | BFIC2 |
| SYNONYM | BFIS2 |
| SYNONYM | DSPB3 |
| SYNONYM | DYT10 |
| SYNONYM | EKD1 |
| SYNONYM | FICCA |
| SYNONYM | ICCA |
| SYNONYM | IFITMD1 |
| SYNONYM | PKC |
| MIM | 614386 OMIM |
| HGNC | HGNC:30500 HGNC |
| Ensembl | ENSG00000167371 Ensembl |
| AllianceGenome | HGNC:30500 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000358758.12 | hg38 | chr16 | 29,812,193 | 29,815,881 | 3,689 |
| ENST00000567659.3 | hg38 | chr16 | 29,812,191 | 29,814,725 | 2,535 |
| ENST00000637403.1 | hg38 | chr16 | 29,812,262 | 29,815,679 | 3,418 |
| ENST00000636619.1 | hg38 | chr16 | 29,812,197 | 29,815,643 | 3,447 |
| ENST00000572820.2 | hg38 | chr16 | 29,812,291 | 29,815,892 | 3,602 |
| ENST00000637565.1 | hg38 | chr16 | 29,812,193 | 29,815,703 | 3,511 |
| ENST00000647876.1 | hg38 | chr16 | 29,812,150 | 29,815,682 | 3,533 |
| ENST00000637064.1 | hg38 | chr16 | 29,812,345 | 29,815,643 | 3,299 |
| ENST00000300797.7 | hg38 | chr16 | 29,812,241 | 29,815,880 | 3,640 |
| ENST00000637565.1 | hg19 | chr16 | 29,823,514 | 29,827,024 | 3,511 |
| ENST00000567659.3 | hg19 | chr16 | 29,823,512 | 29,826,046 | 2,535 |
| ENST00000300797.7 | hg19 | chr16 | 29,823,562 | 29,827,201 | 3,640 |
| ENST00000358758.12 | hg19 | chr16 | 29,823,514 | 29,827,202 | 3,689 |
| ENST00000572820.2 | hg19 | chr16 | 29,823,612 | 29,827,213 | 3,602 |
| ENST00000636619.1 | hg19 | chr16 | 29,823,518 | 29,826,964 | 3,447 |
| ENST00000637064.1 | hg19 | chr16 | 29,823,666 | 29,826,964 | 3,299 |
| ENST00000637403.1 | hg19 | chr16 | 29,823,583 | 29,827,000 | 3,418 |
| ENST00000647876.1 | hg19 | chr16 | 29,823,471 | 29,827,003 | 3,533 |
| Key | Value |
|---|---|
| strand | + |
| start | 29,823,408 |
| Gene Symbol | PRRT2 |
| Entrez GeneId | 112,476 |
| Chr Band | 16p11.2 |
| end | 29,827,201 |
| chr | chr16 |
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