GIGYF1 GRB10 interacting GYF protein 1

Information
Symbol
GIGYF1
Type
protein-coding
Description
GRB10 interacting GYF protein 1
Entrez Gene ID
64599
Genome
hg19
Position
chr7:100,277,130-100,291,873
Genome
hg38
Position
chr7:100,679,507-100,694,250
MIM
612064 OMIM
HGNC
HGNC:9126 HGNC
Ensembl
ENSG00000146830 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 10
Benign 0 24
Likely benign 0 46
Uncertain significance 0 196
Ranking
ClinVar
0
0
14
264
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 GYF1
SYNONYM PERQ1
MIM 612064 OMIM
HGNC HGNC:9126 HGNC
Ensembl ENSG00000146830 Ensembl
AllianceGenome HGNC:9126
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000646601.1 hg38 chr7 100,679,507 100,693,968 14,462
ENST00000275732.5 hg38 chr7 100,679,507 100,689,448 9,942
ENST00000678049.1 hg38 chr7 100,679,507 100,694,250 14,744
ENST00000275732.5 hg19 chr7 100,277,130 100,287,071 9,942
ENST00000646601.1 hg19 chr7 100,277,130 100,291,591 14,462
ENST00000678049.1 hg19 chr7 100,277,130 100,291,873 14,744
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