PIR pirin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
not provided | 7 | 0 |
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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 |
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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 |
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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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MIM | 300931 OMIM |
HGNC | HGNC:30048 HGNC |
Ensembl | ENSG00000087842 Ensembl |
AllianceGenome | HGNC:30048 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000380420.10 | hg38 | chrX | 15,384,799 | 15,493,333 | 108,535 |
ENST00000380421.3 | hg38 | chrX | 15,384,799 | 15,493,564 | 108,766 |
ENST00000380420.10 | hg19 | chrX | 15,402,921 | 15,511,456 | 108,536 |
ENST00000380421.3 | hg19 | chrX | 15,402,921 | 15,511,687 | 108,767 |
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