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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CT5.1 |
SYNONYM | SPGFX5 |
SYNONYM | SSRC |
MIM | 312820 OMIM |
HGNC | HGNC:11335 HGNC |
Ensembl | ENSG00000126752 Ensembl |
AllianceGenome | HGNC:11335 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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 |
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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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