SERPINH1 serpin family H member 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Benign | 0 | 42 |
| Likely benign | 0 | 138 |
| Conflicting classifications of pathogenicity | 0 | 40 |
| not provided | 4 | 0 |
| Uncertain significance | 0 | 232 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
54 |
 |
350 |
 |
10 |
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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| 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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| 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 | AsTP3 |
| SYNONYM | CBP1 |
| SYNONYM | CBP2 |
| SYNONYM | HSP47 |
| SYNONYM | OI10 |
| SYNONYM | PIG14 |
| SYNONYM | PPROM |
| SYNONYM | RA-A47 |
| SYNONYM | SERPINH2 |
| SYNONYM | gp46 |
| MIM | 600943 OMIM |
| HGNC | HGNC:1546 HGNC |
| Ensembl | ENSG00000149257 Ensembl |
| AllianceGenome | HGNC:1546 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000530284.5 | hg38 | chr11 | 75,562,253 | 75,569,430 | 7,178 |
| ENST00000525876.1 | hg38 | chr11 | 75,567,782 | 75,572,782 | 5,001 |
| ENST00000524558.5 | hg38 | chr11 | 75,562,370 | 75,572,782 | 10,413 |
| ENST00000358171.8 | hg38 | chr11 | 75,562,253 | 75,572,783 | 10,531 |
| ENST00000533603.5 | hg38 | chr11 | 75,562,056 | 75,572,783 | 10,728 |
| ENST00000533603.5 | hg19 | chr11 | 75,273,101 | 75,283,828 | 10,728 |
| ENST00000530284.5 | hg19 | chr11 | 75,273,298 | 75,280,475 | 7,178 |
| ENST00000358171.8 | hg19 | chr11 | 75,273,298 | 75,283,828 | 10,531 |
| ENST00000524558.5 | hg19 | chr11 | 75,273,415 | 75,283,827 | 10,413 |
| ENST00000525876.1 | hg19 | chr11 | 75,278,827 | 75,283,827 | 5,001 |
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