GDI1 GDP dissociation inhibitor 1

Information
Symbol
GDI1
Type
protein-coding
Description
GDP dissociation inhibitor 1
Entrez Gene ID
2664
Genome
hg19
Position
chrX:153,665,500-153,671,814
Genome
hg38
Position
chrX:154,437,154-154,443,467
MIM
300104 OMIM
HGNC
HGNC:4226 HGNC
Ensembl
ENSG00000203879 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 14
Benign 0 20
Likely benign 0 52
Conflicting classifications of pathogenicity 0 10
not provided 6 0
Uncertain significance 0 86
Ranking
ClinVar
0
0
22
144
6
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 :
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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 1A
SYNONYM GDIL
SYNONYM MRX41
SYNONYM MRX48
SYNONYM OPHN2
SYNONYM RABGD1A
SYNONYM RABGDIA
SYNONYM XAP-4
SYNONYM XLID41
MIM 300104 OMIM
HGNC HGNC:4226 HGNC
Ensembl ENSG00000203879 Ensembl
AllianceGenome HGNC:4226
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000447750.7 hg38 chrX 154,437,154 154,443,467 6,314
ENST00000630693.2 hg38 chrX 154,436,913 154,439,765 2,853
ENST00000630693.2 hg19 chrX 153,665,259 153,668,112 2,854
ENST00000447750.7 hg19 chrX 153,665,500 153,671,814 6,315
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