CATSPER1 cation channel sperm associated 1

Information
Symbol
CATSPER1
Type
protein-coding
Description
cation channel sperm associated 1
Entrez Gene ID
117144
Genome
hg19
Position
chr11:65,784,223-65,793,950
Genome
hg38
Position
chr11:66,016,752-66,026,479
MIM
606389 OMIM
HGNC
HGNC:17116 HGNC
Ensembl
ENSG00000175294 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 42
Likely benign 0 46
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 198
Ranking
ClinVar
0
0
40
236
6
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
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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 :
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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 :
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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 CATSPER
SYNONYM SPGF7
MIM 606389 OMIM
HGNC HGNC:17116 HGNC
Ensembl ENSG00000175294 Ensembl
AllianceGenome HGNC:17116
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312106.6 hg38 chr11 66,016,752 66,026,479 9,728
ENST00000312106.6 hg19 chr11 65,784,223 65,793,950 9,728
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