SPINK1 serine peptidase inhibitor Kazal type 1
Information
- Symbol
- SPINK1
- Type
- protein-coding
- Description
- serine peptidase inhibitor Kazal type 1
- Entrez Gene ID
- 6690
- Genome
- hg19
- Position
- chr5:147,204,145-147,211,234
- Genome
- hg38
- Position
- chr5:147,824,582-147,831,671
- MIM
- 167790 OMIM
- HGNC
- HGNC:11244 HGNC
- Ensembl
- ENSG00000164266 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 14 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 26 |
| Likely benign | 0 | 122 |
| Conflicting classifications of pathogenicity | 0 | 32 |
| Conflicting classifications of pathogenicity; association; risk factor | 0 | 2 |
| Likely benign; risk factor | 0 | 2 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 176 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
94 |
 |
228 |
 |
6 |
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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| 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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| 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 | PCTT |
| SYNONYM | PSTI |
| SYNONYM | Spink3 |
| SYNONYM | TATI |
| SYNONYM | TCP |
| MIM | 167790 OMIM |
| HGNC | HGNC:11244 HGNC |
| Ensembl | ENSG00000164266 Ensembl |
| AllianceGenome | HGNC:11244 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000510027.2 | hg38 | chr5 | 147,827,086 | 147,831,635 | 4,550 |
| ENST00000296695.10 | hg38 | chr5 | 147,824,582 | 147,831,671 | 7,090 |
| ENST00000296695.10 | hg19 | chr5 | 147,204,145 | 147,211,234 | 7,090 |
| ENST00000510027.2 | hg19 | chr5 | 147,206,649 | 147,211,198 | 4,550 |
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