SYN1 synapsin I

Information
Symbol
SYN1
Type
protein-coding
Description
synapsin I
Entrez Gene ID
6853
Genome
hg19
Position
chrX:47,431,300-47,479,256
Genome
hg38
Position
chrX:47,571,901-47,619,857
MIM
313440 OMIM
HGNC
HGNC:11494 HGNC
Ensembl
ENSG00000008056 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 84
Likely pathogenic 0 40
Benign 0 44
Likely benign 0 376
Conflicting classifications of pathogenicity 0 38
not provided 10 0
Uncertain significance 0 442
Ranking
ClinVar
0
0
156
794
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 EPILX
SYNONYM EPILX1
SYNONYM MRX50
SYNONYM SYN1a
SYNONYM SYN1b
SYNONYM SYNI
MIM 313440 OMIM
HGNC HGNC:11494 HGNC
Ensembl ENSG00000008056 Ensembl
AllianceGenome HGNC:11494
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340666.5 hg38 chrX 47,571,901 47,619,857 47,957
ENST00000295987.13 hg38 chrX 47,571,901 47,619,857 47,957
ENST00000295987.13 hg19 chrX 47,431,300 47,479,256 47,957
ENST00000340666.5 hg19 chrX 47,431,300 47,479,256 47,957
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