DNHD1 dynein heavy chain domain 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 44 |
Likely pathogenic | 0 | 30 |
Benign | 0 | 184 |
Likely benign | 0 | 284 |
Conflicting classifications of pathogenicity | 0 | 22 |
not provided | 0 | 2 |
Uncertain significance | 0 | 596 |
Ranking
ClinVar | |
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0 |
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0 |
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146 |
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948 |
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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
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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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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 | C11orf47 |
SYNONYM | CCDC35 |
SYNONYM | DHCD1 |
SYNONYM | DNHD1L |
SYNONYM | SPGF65 |
MIM | 617277 OMIM |
HGNC | HGNC:26532 HGNC |
Ensembl | ENSG00000179532 Ensembl |
AllianceGenome | HGNC:26532 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000254579.11 | hg38 | chr11 | 6,497,280 | 6,572,020 | 74,741 |
ENST00000354685.7 | hg38 | chr11 | 6,497,301 | 6,520,860 | 23,560 |
ENST00000254579.11 | hg19 | chr11 | 6,518,510 | 6,593,250 | 74,741 |
ENST00000354685.7 | hg19 | chr11 | 6,518,531 | 6,542,090 | 23,560 |
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