SPATA22 spermatogenesis associated 22

Information
Symbol
SPATA22
Type
protein-coding
Description
spermatogenesis associated 22
Entrez Gene ID
84690
Genome
hg19
Position
chr17:3,343,313-3,375,428
Genome
hg38
Position
chr17:3,440,019-3,472,134
MIM
617673 OMIM
HGNC
HGNC:30705 HGNC
Ensembl
ENSG00000141255 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 158
Likely pathogenic 0 190
Benign 0 134
Likely benign 0 334
Conflicting classifications of pathogenicity 0 30
not provided 0 2
Uncertain significance 0 270
Ranking
ClinVar
0
0
162
836
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
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 :
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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 NYD-SP20
SYNONYM NYDSP20
MIM 617673 OMIM
HGNC HGNC:30705 HGNC
Ensembl ENSG00000141255 Ensembl
AllianceGenome HGNC:30705
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355380.8 hg38 chr17 3,440,019 3,471,797 31,779
ENST00000572969.6 hg38 chr17 3,440,019 3,471,819 31,801
ENST00000268981.9 hg38 chr17 3,440,243 3,471,739 31,497
ENST00000397168.7 hg38 chr17 3,440,019 3,471,746 31,728
ENST00000575375.5 hg38 chr17 3,440,019 3,471,826 31,808
ENST00000573128.5 hg38 chr17 3,440,019 3,472,134 32,116
ENST00000541913.5 hg38 chr17 3,440,022 3,513,852 73,831
ENST00000397168.7 hg19 chr17 3,343,313 3,375,040 31,728
ENST00000355380.8 hg19 chr17 3,343,313 3,375,091 31,779
ENST00000572969.6 hg19 chr17 3,343,313 3,375,113 31,801
ENST00000575375.5 hg19 chr17 3,343,313 3,375,120 31,808
ENST00000573128.5 hg19 chr17 3,343,313 3,375,428 32,116
ENST00000541913.5 hg19 chr17 3,343,316 3,417,146 73,831
ENST00000268981.9 hg19 chr17 3,343,537 3,375,033 31,497
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