DNAI7 dynein axonemal intermediate chain 7

Information
Symbol
DNAI7
Type
protein-coding
Description
dynein axonemal intermediate chain 7
Entrez Gene ID
55259
Genome
hg19
Position
chr12:25,261,223-25,348,094
Genome
hg38
Position
chr12:25,108,289-25,195,160
MIM
616906 OMIM
HGNC
HGNC:29599 HGNC
Ensembl
ENSG00000118307 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 14
not provided 1 0
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
78
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
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 CASC1
SYNONYM CFAP94
SYNONYM LAS1
SYNONYM PPP1R54
MIM 616906 OMIM
HGNC HGNC:29599 HGNC
Ensembl ENSG00000118307 Ensembl
AllianceGenome HGNC:29599
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320267.13 hg38 chr12 25,108,420 25,195,160 86,741
ENST00000354189.9 hg38 chr12 25,108,420 25,195,098 86,679
ENST00000676236.1 hg38 chr12 25,108,477 25,195,108 86,632
ENST00000395990.6 hg38 chr12 25,108,420 25,195,160 86,741
ENST00000395987.8 hg38 chr12 25,108,289 25,195,160 86,872
ENST00000545133.5 hg38 chr12 25,108,424 25,195,126 86,703
ENST00000674567.1 hg38 chr12 25,108,436 25,195,144 86,709
ENST00000395987.8 hg19 chr12 25,261,223 25,348,094 86,872
ENST00000354189.9 hg19 chr12 25,261,354 25,348,032 86,679
ENST00000320267.13 hg19 chr12 25,261,354 25,348,094 86,741
ENST00000395990.6 hg19 chr12 25,261,354 25,348,094 86,741
ENST00000545133.5 hg19 chr12 25,261,358 25,348,060 86,703
ENST00000674567.1 hg19 chr12 25,261,370 25,348,078 86,709
ENST00000676236.1 hg19 chr12 25,261,411 25,348,042 86,632
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