SPINT1 serine peptidase inhibitor, Kunitz type 1
Information
- Symbol
- SPINT1
- Type
- protein-coding
- Description
- serine peptidase inhibitor, Kunitz type 1
- Entrez Gene ID
- 6692
- Genome
- hg19
- Position
- chr15:41,136,216-41,150,405
- Genome
- hg38
- Position
- chr15:40,844,018-40,858,207
- MIM
- 605123 OMIM
- HGNC
- HGNC:11246 HGNC
- Ensembl
- ENSG00000166145 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
92 |
 |
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
[No Data.]
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 | HAI |
| SYNONYM | HAI1 |
| SYNONYM | MANSC2 |
| MIM | 605123 OMIM |
| HGNC | HGNC:11246 HGNC |
| Ensembl | ENSG00000166145 Ensembl |
| AllianceGenome | HGNC:11246 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000344051.8 | hg38 | chr15 | 40,844,018 | 40,858,207 | 14,190 |
| ENST00000562057.6 | hg38 | chr15 | 40,844,048 | 40,858,207 | 14,160 |
| ENST00000344051.8 | hg19 | chr15 | 41,136,216 | 41,150,405 | 14,190 |
| ENST00000562057.6 | hg19 | chr15 | 41,136,246 | 41,150,405 | 14,160 |
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