GAPT GRB2 binding adaptor protein, transmembrane

Information
Symbol
GAPT
Type
protein-coding
Description
GRB2 binding adaptor protein, transmembrane
Entrez Gene ID
202309
Genome
hg19
Position
chr5:57,787,308-57,792,917
Genome
hg38
Position
chr5:58,491,481-58,497,090
MIM
620440 OMIM
HGNC
HGNC:26588 HGNC
Ensembl
ENSG00000175857 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
not provided 1 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
26
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
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 C5orf29
MIM 620440 OMIM
HGNC HGNC:26588 HGNC
Ensembl ENSG00000175857 Ensembl
AllianceGenome HGNC:26588
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396776.6 hg38 chr5 58,491,435 58,497,090 5,656
ENST00000513924.2 hg38 chr5 58,491,481 58,497,090 5,610
ENST00000515443.2 hg38 chr5 58,491,492 58,497,090 5,599
ENST00000502276.6 hg38 chr5 58,491,435 58,497,090 5,656
ENST00000318469.2 hg38 chr5 58,494,240 58,496,358 2,119
ENST00000396776.6 hg19 chr5 57,787,262 57,792,917 5,656
ENST00000502276.6 hg19 chr5 57,787,262 57,792,917 5,656
ENST00000513924.2 hg19 chr5 57,787,308 57,792,917 5,610
ENST00000515443.2 hg19 chr5 57,787,319 57,792,917 5,599
ENST00000318469.2 hg19 chr5 57,790,067 57,792,185 2,119
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