GINS1 GINS complex subunit 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 6 |
| Likely benign | 0 | 80 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 182 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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26 |
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240 |
![]() |
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
[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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| 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 | IMD55 |
| SYNONYM | PSF1 |
| MIM | 610608 OMIM |
| HGNC | HGNC:28980 HGNC |
| Ensembl | ENSG00000101003 Ensembl |
| AllianceGenome | HGNC:28980 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000262460.5 | hg38 | chr20 | 25,407,673 | 25,448,563 | 40,891 |
| ENST00000696875.1 | hg38 | chr20 | 25,407,707 | 25,448,541 | 40,835 |
| ENST00000696804.1 | hg38 | chr20 | 25,407,686 | 25,446,091 | 38,406 |
| ENST00000696807.1 | hg38 | chr20 | 25,407,685 | 25,448,546 | 40,862 |
| ENST00000696806.1 | hg38 | chr20 | 25,407,611 | 25,449,072 | 41,462 |
| ENST00000696894.1 | hg38 | chr20 | 25,407,702 | 25,448,563 | 40,862 |
| ENST00000696810.1 | hg38 | chr20 | 25,391,008 | 25,447,400 | 56,393 |
| ENST00000696814.1 | hg38 | chr20 | 25,407,729 | 25,448,462 | 40,734 |
| ENST00000484893.2 | hg38 | chr20 | 25,407,731 | 25,446,153 | 38,423 |
| ENST00000696862.1 | hg38 | chr20 | 25,407,683 | 25,448,531 | 40,849 |
| ENST00000696806.1 | hg19 | chr20 | 25,388,247 | 25,429,708 | 41,462 |
| ENST00000484893.2 | hg19 | chr20 | 25,388,367 | 25,426,789 | 38,423 |
| ENST00000696804.1 | hg19 | chr20 | 25,388,322 | 25,426,727 | 38,406 |
| ENST00000696810.1 | hg19 | chr20 | 25,371,644 | 25,428,036 | 56,393 |
| ENST00000262460.5 | hg19 | chr20 | 25,388,309 | 25,429,199 | 40,891 |
| ENST00000696862.1 | hg19 | chr20 | 25,388,319 | 25,429,167 | 40,849 |
| ENST00000696807.1 | hg19 | chr20 | 25,388,321 | 25,429,182 | 40,862 |
| ENST00000696814.1 | hg19 | chr20 | 25,388,365 | 25,429,098 | 40,734 |
| ENST00000696875.1 | hg19 | chr20 | 25,388,343 | 25,429,177 | 40,835 |
| ENST00000696894.1 | hg19 | chr20 | 25,388,338 | 25,429,199 | 40,862 |
| Key | Value |
|---|---|
| strand | + |
| start | 25,388,318 |
| Gene Symbol | GINS1 |
| Entrez GeneId | 9,837 |
| Chr Band | 20p11.21 |
| end | 25,429,190 |
| chr | chr20 |
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