FKBP1B FKBP prolyl isomerase 1B
Clinical Significance
MGeND | ClinVar | |
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not provided | 2 | 0 |
Uncertain significance | 0 | 2 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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2 |
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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
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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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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 |
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MGeND data only
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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 | FKBP12.6 |
SYNONYM | FKBP1L |
SYNONYM | OTK4 |
SYNONYM | PKBP1L |
SYNONYM | PPIase |
MIM | 600620 OMIM |
HGNC | HGNC:3712 HGNC |
Ensembl | ENSG00000119782 Ensembl |
AllianceGenome | HGNC:3712 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000380991.8 | hg38 | chr2 | 24,049,701 | 24,063,681 | 13,981 |
ENST00000452109.1 | hg38 | chr2 | 24,049,771 | 24,063,671 | 13,901 |
ENST00000380986.9 | hg38 | chr2 | 24,049,741 | 24,063,681 | 13,941 |
ENST00000380991.8 | hg19 | chr2 | 24,272,571 | 24,286,551 | 13,981 |
ENST00000380986.9 | hg19 | chr2 | 24,272,611 | 24,286,551 | 13,941 |
ENST00000452109.1 | hg19 | chr2 | 24,272,641 | 24,286,541 | 13,901 |
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