PDYN prodynorphin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 62 |
| Likely benign | 0 | 64 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| not provided | 3 | 0 |
| Uncertain significance | 0 | 222 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
52 |
![]() |
280 |
![]() |
8 |
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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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
|
| Category | : |
|
| 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 | ADCA |
| SYNONYM | PENKB |
| SYNONYM | SCA23 |
| MIM | 131340 OMIM |
| HGNC | HGNC:8820 HGNC |
| Ensembl | ENSG00000101327 Ensembl |
| AllianceGenome | HGNC:8820 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000217305.3 | hg38 | chr20 | 1,978,759 | 1,994,058 | 15,300 |
| ENST00000540134.5 | hg38 | chr20 | 1,978,757 | 1,993,748 | 14,992 |
| ENST00000539905.5 | hg38 | chr20 | 1,978,757 | 1,994,285 | 15,529 |
| ENST00000540134.5 | hg19 | chr20 | 1,959,403 | 1,974,394 | 14,992 |
| ENST00000539905.5 | hg19 | chr20 | 1,959,403 | 1,974,931 | 15,529 |
| ENST00000217305.3 | hg19 | chr20 | 1,959,405 | 1,974,704 | 15,300 |
Genome browser




