XIAP X-linked inhibitor of apoptosis
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 28 | 70 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 184 |
Likely benign | 0 | 130 |
Conflicting classifications of pathogenicity | 0 | 16 |
not provided | 13 | 0 |
Uncertain significance | 0 | 280 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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46 |
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602 |
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12 |
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 | API3 |
SYNONYM | BIRC4 |
SYNONYM | IAP-3 |
SYNONYM | ILP1 |
SYNONYM | MIHA |
SYNONYM | XLP2 |
SYNONYM | hIAP-3 |
SYNONYM | hIAP3 |
MIM | 300079 OMIM |
HGNC | HGNC:592 HGNC |
Ensembl | ENSG00000101966 Ensembl |
AllianceGenome | HGNC:592 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000355640.3 | hg38 | chrX | 123,860,272 | 123,913,965 | 53,694 |
ENST00000371199.8 | hg38 | chrX | 123,860,053 | 123,913,972 | 53,920 |
ENST00000422098.6 | hg38 | chrX | 123,859,712 | 123,909,171 | 49,460 |
ENST00000422098.6 | hg19 | chrX | 122,993,562 | 123,043,021 | 49,460 |
ENST00000371199.8 | hg19 | chrX | 122,993,903 | 123,047,822 | 53,920 |
ENST00000355640.3 | hg19 | chrX | 122,994,122 | 123,047,815 | 53,694 |
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