FGD1 FYVE, RhoGEF and PH domain containing 1

Information
Symbol
FGD1
Type
protein-coding
Description
FYVE, RhoGEF and PH domain containing 1
Entrez Gene ID
2245
Genome
hg19
Position
chrX:54,471,887-54,522,667
Genome
hg38
Position
chrX:54,445,454-54,496,234
MIM
300546 OMIM
HGNC
HGNC:3663 HGNC
Ensembl
ENSG00000102302 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 88
Likely pathogenic 0 50
Benign 0 120
Likely benign 0 214
Conflicting classifications of pathogenicity 0 42
not provided 6 0
Uncertain significance 0 290
Ranking
ClinVar
0
0
132
558
20
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 AAS
SYNONYM FGDY
SYNONYM MRXS16
SYNONYM ZFYVE3
MIM 300546 OMIM
HGNC HGNC:3663 HGNC
Ensembl ENSG00000102302 Ensembl
AllianceGenome HGNC:3663
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375135.4 hg38 chrX 54,445,454 54,496,234 50,781
ENST00000375135.4 hg19 chrX 54,471,887 54,522,667 50,781
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