SPEF1 sperm flagellar 1

Information
Symbol
SPEF1
Type
protein-coding
Description
sperm flagellar 1
Entrez Gene ID
25876
Genome
hg19
Position
chr20:3,758,151-3,762,095
Genome
hg38
Position
chr20:3,777,504-3,781,448
MIM
610674 OMIM
HGNC
HGNC:15874 HGNC
Ensembl
ENSG00000101222 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
28
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 C20orf28
SYNONYM CLAMP
SYNONYM SPEF1A
MIM 610674 OMIM
HGNC HGNC:15874 HGNC
Ensembl ENSG00000101222 Ensembl
AllianceGenome HGNC:15874
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379756.3 hg38 chr20 3,777,504 3,781,448 3,945
ENST00000379756.3 hg19 chr20 3,758,151 3,762,095 3,945
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