PSORS1C2 psoriasis susceptibility 1 candidate 2
Information
- Symbol
- PSORS1C2
- Type
- protein-coding
- Description
- psoriasis susceptibility 1 candidate 2
- Entrez Gene ID
- 170680
- Genome
- hg19
- Position
- chr6:31,105,311-31,106,843
- Genome
- hg38
- Position
- chr6:31,137,534-31,139,066
- MIM
- 613526 OMIM
- HGNC
- HGNC:17199 HGNC
- Ensembl
- ENSG00000204538 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 14 |
| Likely benign | 0 | 2 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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2 |
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28 |
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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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| 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 | C6orf17 |
| SYNONYM | SPR1 |
| MIM | 613526 OMIM |
| HGNC | HGNC:17199 HGNC |
| Ensembl | ENSG00000204538 Ensembl |
| AllianceGenome | HGNC:17199 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000259845.5 | hg38 | chr6 | 31,137,534 | 31,139,066 | 1,533 |
| ENST00000259845.5 | hg19 | chr6 | 31,105,311 | 31,106,843 | 1,533 |
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