ESYT1 extended synaptotagmin 1

Information
Symbol
ESYT1
Type
protein-coding
Description
extended synaptotagmin 1
Entrez Gene ID
23344
Genome
hg19
Position
chr12:56,522,051-56,537,825
Genome
hg38
Position
chr12:56,128,267-56,144,041
MIM
616670 OMIM
HGNC
HGNC:29534 HGNC
Ensembl
ENSG00000139641 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 4
Uncertain significance 0 150
Ranking
ClinVar
0
0
0
162
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 :
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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 FAM62A
SYNONYM MBC2
MIM 616670 OMIM
HGNC HGNC:29534 HGNC
Ensembl ENSG00000139641 Ensembl
AllianceGenome HGNC:29534
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000394048.10 hg38 chr12 56,128,267 56,144,674 16,408
ENST00000267113.4 hg38 chr12 56,128,267 56,144,041 15,775
ENST00000267113.4 hg19 chr12 56,522,051 56,537,825 15,775
ENST00000394048.10 hg19 chr12 56,522,051 56,538,458 16,408
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