SELP selectin P
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Benign | 18 | 28 |
Likely benign | 0 | 12 |
Uncertain significance | 0 | 86 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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124 |
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4 |
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 |
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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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SYNONYM | CD62 |
SYNONYM | CD62P |
SYNONYM | GMP140 |
SYNONYM | GRMP |
SYNONYM | LECAM3 |
SYNONYM | PADGEM |
SYNONYM | PSEL |
MIM | 173610 OMIM |
HGNC | HGNC:10721 HGNC |
Ensembl | ENSG00000174175 Ensembl |
AllianceGenome | HGNC:10721 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000458599.6 | hg38 | chr1 | 169,590,147 | 169,630,077 | 39,931 |
ENST00000367788.6 | hg38 | chr1 | 169,590,147 | 169,630,193 | 40,047 |
ENST00000367786.6 | hg38 | chr1 | 169,589,514 | 169,630,076 | 40,563 |
ENST00000263686.11 | hg38 | chr1 | 169,588,849 | 169,630,124 | 41,276 |
ENST00000263686.11 | hg19 | chr1 | 169,558,087 | 169,599,362 | 41,276 |
ENST00000367786.6 | hg19 | chr1 | 169,558,752 | 169,599,314 | 40,563 |
ENST00000458599.6 | hg19 | chr1 | 169,559,385 | 169,599,315 | 39,931 |
ENST00000367788.6 | hg19 | chr1 | 169,559,385 | 169,599,431 | 40,047 |
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