SPCS2 signal peptidase complex subunit 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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14 |
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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
[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 | |||||
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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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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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MIM | 619411 OMIM |
HGNC | HGNC:28962 HGNC |
Ensembl | ENSG00000118363 Ensembl |
AllianceGenome | HGNC:28962 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000526361.1 | hg38 | chr11 | 74,949,264 | 74,977,348 | 28,085 |
ENST00000263672.11 | hg38 | chr11 | 74,949,266 | 74,979,033 | 29,768 |
ENST00000530257.5 | hg38 | chr11 | 74,949,261 | 74,977,156 | 27,896 |
ENST00000530257.5 | hg19 | chr11 | 74,660,306 | 74,688,201 | 27,896 |
ENST00000526361.1 | hg19 | chr11 | 74,660,309 | 74,688,393 | 28,085 |
ENST00000263672.11 | hg19 | chr11 | 74,660,311 | 74,690,078 | 29,768 |
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