GOSR1 golgi SNAP receptor complex member 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
not provided | 2 | 0 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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30 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | GOLIM2 |
SYNONYM | GOS-28 |
SYNONYM | GOS28 |
SYNONYM | GOS28/P28 |
SYNONYM | GS28 |
SYNONYM | P28 |
MIM | 604026 OMIM |
HGNC | HGNC:4430 HGNC |
Ensembl | ENSG00000108587 Ensembl |
AllianceGenome | HGNC:4430 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000581721.5 | hg38 | chr17 | 30,477,427 | 30,522,416 | 44,990 |
ENST00000225724.9 | hg38 | chr17 | 30,477,362 | 30,527,592 | 50,231 |
ENST00000467337.6 | hg38 | chr17 | 30,477,423 | 30,522,609 | 45,187 |
ENST00000451249.7 | hg38 | chr17 | 30,477,408 | 30,527,592 | 50,185 |
ENST00000225724.9 | hg19 | chr17 | 28,804,380 | 28,854,610 | 50,231 |
ENST00000451249.7 | hg19 | chr17 | 28,804,426 | 28,854,610 | 50,185 |
ENST00000467337.6 | hg19 | chr17 | 28,804,441 | 28,849,627 | 45,187 |
ENST00000581721.5 | hg19 | chr17 | 28,804,445 | 28,849,434 | 44,990 |
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