XRCC2 X-ray repair cross complementing 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 1 | 2 |
Likely pathogenic | 0 | 26 |
Benign | 0 | 54 |
Likely benign | 0 | 354 |
Conflicting classifications of pathogenicity | 0 | 70 |
not provided | 8 | 0 |
Uncertain significance | 5 | 792 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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392 |
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788 |
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24 |
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 | FANCU |
SYNONYM | POF17 |
SYNONYM | SPGF50 |
MIM | 600375 OMIM |
HGNC | HGNC:12829 HGNC |
Ensembl | ENSG00000196584 Ensembl |
AllianceGenome | HGNC:12829 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000698506.1 | hg38 | chr7 | 152,646,624 | 152,676,193 | 29,570 |
ENST00000359321.2 | hg38 | chr7 | 152,644,776 | 152,676,141 | 31,366 |
ENST00000359321.2 | hg19 | chr7 | 152,341,861 | 152,373,226 | 31,366 |
ENST00000698506.1 | hg19 | chr7 | 152,343,709 | 152,373,278 | 29,570 |
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