SPATA46 spermatogenesis associated 46

Information
Symbol
SPATA46
Type
protein-coding
Description
spermatogenesis associated 46
Entrez Gene ID
284680
Genome
hg19
Position
chr1:162,342,993-162,346,644
Genome
hg38
Position
chr1:162,373,203-162,376,854
MIM
617257 OMIM
HGNC
HGNC:27648 HGNC
Ensembl
ENSG00000171722 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
16
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 :
Search word :
Filtering :
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 C1orf111
SYNONYM HSD20
SYNONYM TEKT2BP2
MIM 617257 OMIM
HGNC HGNC:27648 HGNC
Ensembl ENSG00000171722 Ensembl
AllianceGenome HGNC:27648
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367935.10 hg38 chr1 162,373,203 162,376,854 3,652
ENST00000367935.10 hg19 chr1 162,342,993 162,346,644 3,652
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