SPEM1 spermatid maturation 1

Information
Symbol
SPEM1
Type
protein-coding
Description
spermatid maturation 1
Entrez Gene ID
374768
Genome
hg19
Position
chr17:7,323,643-7,324,951
Genome
hg38
Position
chr17:7,420,324-7,421,632
MIM
615116 OMIM
HGNC
HGNC:32429 HGNC
Ensembl
ENSG00000181323 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 12
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
70
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 :
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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 C17orf83
MIM 615116 OMIM
HGNC HGNC:32429 HGNC
Ensembl ENSG00000181323 Ensembl
AllianceGenome HGNC:32429
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323675.4 hg38 chr17 7,420,324 7,421,632 1,309
ENST00000323675.4 hg19 chr17 7,323,643 7,324,951 1,309
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