SYCP3 synaptonemal complex protein 3

Information
Symbol
SYCP3
Type
protein-coding
Description
synaptonemal complex protein 3
Entrez Gene ID
50511
Genome
hg19
Position
chr12:102,122,428-102,133,247
Genome
hg38
Position
chr12:101,728,650-101,739,469
MIM
604759 OMIM
HGNC
HGNC:18130 HGNC
Ensembl
ENSG00000139351 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 32
Likely benign 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
6
66
8
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 COR1
SYNONYM RPRGL4
SYNONYM SCP3
SYNONYM SPGF4
MIM 604759 OMIM
HGNC HGNC:18130 HGNC
Ensembl ENSG00000139351 Ensembl
AllianceGenome HGNC:18130
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266743.6 hg38 chr12 101,728,648 101,739,426 10,779
ENST00000392927.7 hg38 chr12 101,728,650 101,739,469 10,820
ENST00000392924.2 hg38 chr12 101,728,648 101,739,462 10,815
ENST00000266743.6 hg19 chr12 102,122,426 102,133,204 10,779
ENST00000392924.2 hg19 chr12 102,122,426 102,133,240 10,815
ENST00000392927.7 hg19 chr12 102,122,428 102,133,247 10,820
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