RSPH6A radial spoke head 6 homolog A

Information
Symbol
RSPH6A
Type
protein-coding
Description
radial spoke head 6 homolog A
Entrez Gene ID
81492
Genome
hg19
Position
chr19:46,298,971-46,318,566
Genome
hg38
Position
chr19:45,795,713-45,815,308
MIM
607548 OMIM
HGNC
HGNC:14241 HGNC
Ensembl
ENSG00000104941 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 124
Ranking
ClinVar
0
0
0
128
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
[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 RSHL1
SYNONYM RSP4
SYNONYM RSP6
SYNONYM RSPH4B
MIM 607548 OMIM
HGNC HGNC:14241 HGNC
Ensembl ENSG00000104941 Ensembl
AllianceGenome HGNC:14241
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000600188.5 hg38 chr19 45,795,713 45,810,931 15,219
ENST00000597055.1 hg38 chr19 45,795,765 45,815,228 19,464
ENST00000221538.8 hg38 chr19 45,795,713 45,815,308 19,596
ENST00000600188.5 hg19 chr19 46,298,971 46,314,189 15,219
ENST00000221538.8 hg19 chr19 46,298,971 46,318,566 19,596
ENST00000597055.1 hg19 chr19 46,299,023 46,318,486 19,464
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