SRGAP1 SLIT-ROBO Rho GTPase activating protein 1

Information
Symbol
SRGAP1
Type
protein-coding
Description
SLIT-ROBO Rho GTPase activating protein 1
Entrez Gene ID
57522
Genome
hg19
Position
chr12:64,238,480-64,555,997
Genome
hg38
Position
chr12:63,844,700-64,162,217
MIM
606523 OMIM
HGNC
HGNC:17382 HGNC
Ensembl
ENSG00000196935 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 28
Likely benign 0 42
Uncertain significance 0 104
Ranking
ClinVar
0
0
16
148
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 ARHGAP13
SYNONYM NMTC2
MIM 606523 OMIM
HGNC HGNC:17382 HGNC
Ensembl ENSG00000196935 Ensembl
AllianceGenome HGNC:17382
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000631006.3 hg38 chr12 63,843,761 64,147,833 304,073
ENST00000355086.8 hg38 chr12 63,844,700 64,162,217 317,518
ENST00000631006.3 hg19 chr12 64,237,541 64,541,613 304,073
ENST00000355086.8 hg19 chr12 64,238,480 64,555,997 317,518
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