PER3 period circadian regulator 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 4 |
Benign | 0 | 30 |
Likely benign | 0 | 64 |
Conflicting classifications of pathogenicity | 0 | 8 |
Uncertain significance | 0 | 136 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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22 |
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206 |
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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
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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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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 | FASPS3 |
SYNONYM | GIG13 |
MIM | 603427 OMIM |
HGNC | HGNC:8847 HGNC |
Ensembl | ENSG00000049246 Ensembl |
AllianceGenome | HGNC:8847 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000377541.5 | hg38 | chr1 | 7,784,320 | 7,803,958 | 19,639 |
ENST00000361923.2 | hg38 | chr1 | 7,784,703 | 7,845,177 | 60,475 |
ENST00000377532.8 | hg38 | chr1 | 7,784,291 | 7,845,177 | 60,887 |
ENST00000613533.4 | hg38 | chr1 | 7,784,429 | 7,845,176 | 60,748 |
ENST00000614998.4 | hg38 | chr1 | 7,784,429 | 7,845,176 | 60,748 |
ENST00000377532.8 | hg19 | chr1 | 7,844,351 | 7,905,237 | 60,887 |
ENST00000377541.5 | hg19 | chr1 | 7,844,380 | 7,864,018 | 19,639 |
ENST00000613533.4 | hg19 | chr1 | 7,844,489 | 7,905,236 | 60,748 |
ENST00000614998.4 | hg19 | chr1 | 7,844,489 | 7,905,236 | 60,748 |
ENST00000361923.2 | hg19 | chr1 | 7,844,763 | 7,905,237 | 60,475 |
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