GIT1 GIT ArfGAP 1

Information
Symbol
GIT1
Type
protein-coding
Description
GIT ArfGAP 1
Entrez Gene ID
28964
Genome
hg19
Position
chr17:27,900,493-27,916,567
Genome
hg38
Position
chr17:29,573,475-29,589,549
MIM
608434 OMIM
HGNC
HGNC:4272 HGNC
Ensembl
ENSG00000108262 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 26
Uncertain significance 0 58
Ranking
ClinVar
0
0
4
86
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 :
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 p95-APP1
MIM 608434 OMIM
HGNC HGNC:4272 HGNC
Ensembl ENSG00000108262 Ensembl
AllianceGenome HGNC:4272
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000581348.5 hg38 chr17 29,574,172 29,589,431 15,260
ENST00000225394.8 hg38 chr17 29,573,475 29,589,648 16,174
ENST00000579937.5 hg38 chr17 29,574,451 29,589,592 15,142
ENST00000394869.7 hg38 chr17 29,573,475 29,589,549 16,075
ENST00000394869.7 hg19 chr17 27,900,493 27,916,567 16,075
ENST00000225394.8 hg19 chr17 27,900,493 27,916,666 16,174
ENST00000581348.5 hg19 chr17 27,901,190 27,916,449 15,260
ENST00000579937.5 hg19 chr17 27,901,469 27,916,610 15,142
Genome browser