DNAAF3 dynein axonemal assembly factor 3

Information
Symbol
DNAAF3
Type
protein-coding
Description
dynein axonemal assembly factor 3
Entrez Gene ID
352909
Genome
hg19
Position
chr19:55,670,031-55,678,018
Genome
hg38
Position
chr19:55,158,663-55,166,650
MIM
614566 OMIM
HGNC
HGNC:30492 HGNC
Ensembl
ENSG00000167646 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 56
Likely pathogenic 0 26
Benign 0 77
Likely benign 0 329
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 352
Ranking
ClinVar
0
0
187
596
8
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 :
Filtering :
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 C19orf51
SYNONYM CILD2
SYNONYM DAB1
SYNONYM PCD
SYNONYM PF22
MIM 614566 OMIM
HGNC HGNC:30492 HGNC
Ensembl ENSG00000167646 Ensembl
AllianceGenome HGNC:30492
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000391720.8 hg38 chr19 55,158,663 55,166,651 7,989
ENST00000527223.6 hg38 chr19 55,158,663 55,166,650 7,988
ENST00000524407.7 hg38 chr19 55,158,665 55,166,613 7,949
ENST00000455045.5 hg38 chr19 55,158,661 55,166,722 8,062
ENST00000455045.5 hg19 chr19 55,670,029 55,678,090 8,062
ENST00000391720.8 hg19 chr19 55,670,031 55,678,019 7,989
ENST00000524407.7 hg19 chr19 55,670,033 55,677,981 7,949
ENST00000527223.6 hg19 chr19 55,670,031 55,678,018 7,988
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