ITPRIPL1 ITPRIP like 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
not provided | 2 | 0 |
Uncertain significance | 0 | 74 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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72 |
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2 |
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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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 | D1B |
SYNONYM | KIAA1754L |
MIM | 620821 OMIM |
HGNC | HGNC:29371 HGNC |
Ensembl | ENSG00000198885 Ensembl |
AllianceGenome | HGNC:29371 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000361124.5 | hg38 | chr2 | 96,326,223 | 96,330,517 | 4,295 |
ENST00000439118.3 | hg38 | chr2 | 96,325,317 | 96,328,353 | 3,037 |
ENST00000536814.1 | hg38 | chr2 | 96,325,331 | 96,328,353 | 3,023 |
ENST00000439118.3 | hg19 | chr2 | 96,991,055 | 96,994,091 | 3,037 |
ENST00000536814.1 | hg19 | chr2 | 96,991,069 | 96,994,091 | 3,023 |
ENST00000361124.5 | hg19 | chr2 | 96,991,961 | 96,996,255 | 4,295 |
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