SHKBP1 SH3KBP1 binding protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
not provided | 3 | 0 |
Uncertain significance | 0 | 88 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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90 |
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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 |
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 | PP203 |
SYNONYM | Sb1 |
MIM | 617322 OMIM |
HGNC | HGNC:19214 HGNC |
Ensembl | ENSG00000160410 Ensembl |
AllianceGenome | HGNC:19214 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000291842.10 | hg38 | chr19 | 40,576,873 | 40,591,397 | 14,525 |
ENST00000600733.5 | hg38 | chr19 | 40,576,855 | 40,591,397 | 14,543 |
ENST00000600733.5 | hg19 | chr19 | 41,082,761 | 41,097,303 | 14,543 |
ENST00000291842.10 | hg19 | chr19 | 41,082,779 | 41,097,303 | 14,525 |
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