IFT70A intraflagellar transport 70A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 66 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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66 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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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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 | CFAP259 |
SYNONYM | FAP259 |
SYNONYM | TTC30A |
SYNONYM | TTC30B |
MIM | 620741 OMIM |
HGNC | HGNC:25853 HGNC |
Ensembl | ENSG00000197557 Ensembl |
AllianceGenome | HGNC:25853 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000355689.6 | hg38 | chr2 | 177,612,999 | 177,618,742 | 5,744 |
ENST00000355689.6 | hg19 | chr2 | 178,477,727 | 178,483,470 | 5,744 |
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