SSX1 SSX family member 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 2 |
| Likely benign | 0 | 20 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 38 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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4 |
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52 |
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8 |
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
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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 | |||||||||||
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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 | ||||||||||||||
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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 | CT5.1 |
| SYNONYM | SPGFX5 |
| SYNONYM | SSRC |
| MIM | 312820 OMIM |
| HGNC | HGNC:11335 HGNC |
| Ensembl | ENSG00000126752 Ensembl |
| AllianceGenome | HGNC:11335 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000376919.4 | hg38 | chrX | 48,255,392 | 48,267,444 | 12,053 |
| ENST00000376919.4 | hg19 | chrX | 48,114,827 | 48,126,879 | 12,053 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 48,114,751 |
| Gene Symbol | SSX1 |
| Entrez GeneId | 6,756 |
| Chr Band | Xp11.23-p11.22 |
| end | 48,126,878 |
| chr | chrX |
| Name | synovial sarcoma, X breakpoint 1 |
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