IFITM5 interferon induced transmembrane protein 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 62 |
Likely benign | 0 | 88 |
Conflicting classifications of pathogenicity | 0 | 28 |
Uncertain significance | 0 | 92 |
Ranking
ClinVar | |
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0 |
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0 |
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48 |
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192 |
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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
[No Data.]
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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Target data | : |
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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SYNONYM | BRIL |
SYNONYM | DSPA1 |
SYNONYM | Hrmp1 |
SYNONYM | OI5 |
SYNONYM | fragilis4 |
MIM | 614757 OMIM |
HGNC | HGNC:16644 HGNC |
Ensembl | ENSG00000206013 Ensembl |
AllianceGenome | HGNC:16644 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000382614.2 | hg38 | chr11 | 298,200 | 299,526 | 1,327 |
ENST00000382614.2 | hg19 | chr11 | 298,200 | 299,526 | 1,327 |
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