NAIP NLR family apoptosis inhibitory protein
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
not provided | 1 | 0 |
Uncertain significance | 0 | 16 |
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 |
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 | BIRC1 |
SYNONYM | NLRB1 |
SYNONYM | psiNAIP |
MIM | 600355 OMIM |
HGNC | HGNC:7634 HGNC |
Ensembl | ENSG00000249437 Ensembl |
AllianceGenome | HGNC:7634 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000517649.6 | hg38 | chr5 | 70,968,166 | 71,025,339 | 57,174 |
ENST00000194097.8 | hg38 | chr5 | 70,968,483 | 71,020,910 | 52,428 |
ENST00000508426.6 | hg38 | chr5 | 70,970,050 | 71,020,710 | 50,661 |
ENST00000503719.6 | hg38 | chr5 | 70,968,483 | 71,024,373 | 55,891 |
ENST00000523981.5 | hg38 | chr5 | 70,969,820 | 71,025,114 | 55,295 |
ENST00000517649.6 | hg19 | chr5 | 70,263,993 | 70,321,166 | 57,174 |
ENST00000194097.8 | hg19 | chr5 | 70,264,310 | 70,316,737 | 52,428 |
ENST00000503719.6 | hg19 | chr5 | 70,264,310 | 70,320,200 | 55,891 |
ENST00000523981.5 | hg19 | chr5 | 70,265,647 | 70,320,941 | 55,295 |
ENST00000508426.6 | hg19 | chr5 | 70,265,877 | 70,316,537 | 50,661 |
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