SYNGAP1 synaptic Ras GTPase activating protein 1

Information
Symbol
SYNGAP1
Type
protein-coding
Description
synaptic Ras GTPase activating protein 1
Entrez Gene ID
8831
Genome
hg19
Position
chr6:33,387,842-33,421,466
Genome
hg38
Position
chr6:33,420,065-33,453,689
MIM
603384 OMIM
HGNC
HGNC:11497 HGNC
Ensembl
ENSG00000197283 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 508
Likely pathogenic 0 200
Benign 6 290
Likely benign 0 1,026
Conflicting classifications of pathogenicity 0 162
not provided 5 4
Uncertain significance 0 914
Ranking
ClinVar
0
0
430
2,382
28
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 MRD5
SYNONYM RASA1
SYNONYM RASA5
SYNONYM SYNGAP
MIM 603384 OMIM
HGNC HGNC:11497 HGNC
Ensembl ENSG00000197283 Ensembl
AllianceGenome HGNC:11497
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000628646.2 hg38 chr6 33,420,265 33,449,167 28,903
ENST00000629380.3 hg38 chr6 33,420,070 33,453,689 33,620
ENST00000682587.1 hg38 chr6 33,428,230 33,453,689 25,460
ENST00000428982.4 hg38 chr6 33,431,731 33,452,210 20,480
ENST00000644458.1 hg38 chr6 33,420,201 33,451,862 31,662
ENST00000449372.7 hg38 chr6 33,420,255 33,451,842 31,588
ENST00000645250.1 hg38 chr6 33,431,911 33,452,092 20,182
ENST00000418600.7 hg38 chr6 33,420,265 33,453,689 33,425
ENST00000646630.1 hg38 chr6 33,420,065 33,453,689 33,625
ENST00000428982.4 hg19 chr6 33,399,508 33,419,987 20,480
ENST00000629380.3 hg19 chr6 33,387,847 33,421,466 33,620
ENST00000449372.7 hg19 chr6 33,388,032 33,419,619 31,588
ENST00000628646.2 hg19 chr6 33,388,042 33,416,944 28,903
ENST00000418600.7 hg19 chr6 33,388,042 33,421,466 33,425
ENST00000682587.1 hg19 chr6 33,396,007 33,421,466 25,460
ENST00000645250.1 hg19 chr6 33,399,688 33,419,869 20,182
ENST00000644458.1 hg19 chr6 33,387,978 33,419,639 31,662
ENST00000646630.1 hg19 chr6 33,387,842 33,421,466 33,625
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