DNAI2 dynein axonemal intermediate chain 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 134 |
Likely pathogenic | 0 | 54 |
Benign | 0 | 124 |
Likely benign | 0 | 856 |
Conflicting classifications of pathogenicity | 0 | 70 |
Uncertain significance | 0 | 344 |
Ranking
ClinVar | |
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0 |
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0 |
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250 |
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1,222 |
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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
[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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SYNONYM | CILD9 |
SYNONYM | DIC2 |
SYNONYM | oda6 |
MIM | 605483 OMIM |
HGNC | HGNC:18744 HGNC |
Ensembl | ENSG00000171595 Ensembl |
AllianceGenome | HGNC:18744 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000311014.11 | hg38 | chr17 | 74,274,234 | 74,314,884 | 40,651 |
ENST00000446837.2 | hg38 | chr17 | 74,281,512 | 74,314,883 | 33,372 |
ENST00000579490.5 | hg38 | chr17 | 74,281,512 | 74,314,884 | 33,373 |
ENST00000582036.5 | hg38 | chr17 | 74,274,247 | 74,314,884 | 40,638 |
ENST00000311014.11 | hg19 | chr17 | 72,270,373 | 72,311,023 | 40,651 |
ENST00000582036.5 | hg19 | chr17 | 72,270,386 | 72,311,023 | 40,638 |
ENST00000446837.2 | hg19 | chr17 | 72,277,651 | 72,311,022 | 33,372 |
ENST00000579490.5 | hg19 | chr17 | 72,277,651 | 72,311,023 | 33,373 |
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