RSPH14 radial spoke head 14 homolog

Information
Symbol
RSPH14
Type
protein-coding
Description
radial spoke head 14 homolog
Entrez Gene ID
27156
Genome
hg19
Position
chr22:23,401,593-23,484,177
Genome
hg38
Position
chr22:23,059,415-23,141,990
MIM
605663 OMIM
HGNC
HGNC:13437 HGNC
Ensembl
ENSG00000100218 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
not provided 2 0
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
64
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 :
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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 RTDR1
MIM 605663 OMIM
HGNC HGNC:13437 HGNC
Ensembl ENSG00000100218 Ensembl
AllianceGenome HGNC:13437
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000406876.1 hg38 chr22 23,136,198 23,145,021 8,824
ENST00000216036.9 hg38 chr22 23,059,415 23,141,990 82,576
ENST00000216036.9 hg19 chr22 23,401,593 23,484,177 82,585
ENST00000406876.1 hg19 chr22 23,478,385 23,487,208 8,824
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