RSPH9 radial spoke head component 9

Information
Symbol
RSPH9
Type
protein-coding
Description
radial spoke head component 9
Entrez Gene ID
221421
Genome
hg19
Position
chr6:43,612,783-43,640,336
Genome
hg38
Position
chr6:43,645,046-43,672,599
MIM
612648 OMIM
HGNC
HGNC:21057 HGNC
Ensembl
ENSG00000172426 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 10
Benign 0 44
Likely benign 0 106
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 172
Ranking
ClinVar
0
0
50
296
4
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 :
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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 C6orf206
SYNONYM CILD12
SYNONYM MRPS18AL1
MIM 612648 OMIM
HGNC HGNC:21057 HGNC
Ensembl ENSG00000172426 Ensembl
AllianceGenome HGNC:21057
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372163.5 hg38 chr6 43,645,036 43,672,600 27,565
ENST00000372165.8 hg38 chr6 43,645,046 43,672,599 27,554
ENST00000372163.5 hg19 chr6 43,612,773 43,640,337 27,565
ENST00000372165.8 hg19 chr6 43,612,783 43,640,336 27,554
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