CENPI centromere protein I
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 10 |
not provided | 6 | 0 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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48 |
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2 |
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 | : | |
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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 |
---|---|
SYNONYM | CENP-I |
SYNONYM | FSHPRH1 |
SYNONYM | LRPR1 |
MIM | 300065 OMIM |
HGNC | HGNC:3968 HGNC |
Ensembl | ENSG00000102384 Ensembl |
AllianceGenome | HGNC:3968 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000372926.5 | hg38 | chrX | 101,100,437 | 101,141,293 | 40,857 |
ENST00000372927.5 | hg38 | chrX | 101,100,437 | 101,163,681 | 63,245 |
ENST00000423383.3 | hg38 | chrX | 101,098,189 | 101,163,436 | 65,248 |
ENST00000684367.1 | hg38 | chrX | 101,098,188 | 101,163,795 | 65,608 |
ENST00000682095.1 | hg38 | chrX | 101,098,204 | 101,166,126 | 67,923 |
ENST00000684367.1 | hg19 | chrX | 100,353,177 | 100,418,784 | 65,608 |
ENST00000423383.3 | hg19 | chrX | 100,353,178 | 100,418,425 | 65,248 |
ENST00000682095.1 | hg19 | chrX | 100,353,193 | 100,421,115 | 67,923 |
ENST00000372926.5 | hg19 | chrX | 100,355,426 | 100,396,282 | 40,857 |
ENST00000372927.5 | hg19 | chrX | 100,355,426 | 100,418,670 | 63,245 |
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