IFT20 intraflagellar transport 20
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 22 |
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
[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 |
Search Word
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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MIM | 614394 OMIM |
HGNC | HGNC:30989 HGNC |
Ensembl | ENSG00000109083 Ensembl |
AllianceGenome | HGNC:30989 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000357896.7 | hg38 | chr17 | 28,328,327 | 28,335,469 | 7,143 |
ENST00000395418.8 | hg38 | chr17 | 28,328,326 | 28,335,472 | 7,147 |
ENST00000579419.5 | hg38 | chr17 | 28,328,326 | 28,335,439 | 7,114 |
ENST00000585313.5 | hg38 | chr17 | 28,328,337 | 28,335,439 | 7,103 |
ENST00000588477.5 | hg38 | chr17 | 28,328,325 | 28,335,489 | 7,165 |
ENST00000578985.5 | hg38 | chr17 | 28,328,999 | 28,335,440 | 6,442 |
ENST00000585089.5 | hg38 | chr17 | 28,328,329 | 28,335,449 | 7,121 |
ENST00000578122.5 | hg38 | chr17 | 28,328,887 | 28,335,435 | 6,549 |
ENST00000588477.5 | hg19 | chr17 | 26,655,351 | 26,662,515 | 7,165 |
ENST00000579419.5 | hg19 | chr17 | 26,655,352 | 26,662,465 | 7,114 |
ENST00000395418.8 | hg19 | chr17 | 26,655,352 | 26,662,498 | 7,147 |
ENST00000357896.7 | hg19 | chr17 | 26,655,353 | 26,662,495 | 7,143 |
ENST00000585089.5 | hg19 | chr17 | 26,655,355 | 26,662,475 | 7,121 |
ENST00000585313.5 | hg19 | chr17 | 26,655,363 | 26,662,465 | 7,103 |
ENST00000578122.5 | hg19 | chr17 | 26,655,913 | 26,662,461 | 6,549 |
ENST00000578985.5 | hg19 | chr17 | 26,656,025 | 26,662,466 | 6,442 |
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