STEEP1 STING1 ER exit protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 4 |
not provided | 6 | 0 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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20 |
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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
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 |
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 | |||
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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 | CXorf56 |
SYNONYM | MRX107 |
SYNONYM | STEEP |
SYNONYM | XLID107 |
MIM | 301012 OMIM |
HGNC | HGNC:26239 HGNC |
Ensembl | ENSG00000018610 Ensembl |
AllianceGenome | HGNC:26239 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000644802.2 | hg38 | chrX | 119,538,149 | 119,565,409 | 27,261 |
ENST00000536133.2 | hg38 | chrX | 119,539,318 | 119,565,408 | 26,091 |
ENST00000320339.8 | hg38 | chrX | 119,538,149 | 119,565,373 | 27,225 |
ENST00000320339.8 | hg19 | chrX | 118,672,112 | 118,699,336 | 27,225 |
ENST00000644802.2 | hg19 | chrX | 118,672,112 | 118,699,372 | 27,261 |
ENST00000536133.2 | hg19 | chrX | 118,673,281 | 118,699,371 | 26,091 |
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