DNAH17 dynein axonemal heavy chain 17

Information
Symbol
DNAH17
Type
protein-coding
Description
dynein axonemal heavy chain 17
Entrez Gene ID
8632
Genome
hg19
Position
chr17:76,419,778-76,573,478
Genome
hg38
Position
chr17:78,423,697-78,577,396
MIM
610063 OMIM
HGNC
HGNC:2946 HGNC
Ensembl
ENSG00000187775 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 20
Benign 0 712
Likely benign 0 276
Conflicting classifications of pathogenicity 0 34
no classification for the single variant 0 8
Uncertain significance 0 826
Ranking
ClinVar
0
0
184
1,632
16
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
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DNAHL1
SYNONYM DNEL2
SYNONYM SPGF39
MIM 610063 OMIM
HGNC HGNC:2946 HGNC
Ensembl ENSG00000187775 Ensembl
AllianceGenome HGNC:2946
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000389840.7 hg38 chr17 78,423,697 78,577,396 153,700
ENST00000389840.7 hg19 chr17 76,419,778 76,573,478 153,701
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