RAPGEFL1 Rap guanine nucleotide exchange factor like 1

Information
Symbol
RAPGEFL1
Type
protein-coding
Description
Rap guanine nucleotide exchange factor like 1
Entrez Gene ID
51195
Genome
hg19
Position
chr17:38,333,723-38,351,902
Genome
hg38
Position
chr17:40,177,470-40,195,650
HGNC
HGNC:17428 HGNC
Ensembl
ENSG00000108352 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
42
4
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 Link-GEFII
HGNC HGNC:17428 HGNC
Ensembl ENSG00000108352 Ensembl
AllianceGenome HGNC:17428
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000544503.5 hg38 chr17 40,177,077 40,194,190 17,114
ENST00000620260.6 hg38 chr17 40,177,470 40,195,650 18,181
ENST00000456989.6 hg38 chr17 40,177,010 40,193,788 16,779
ENST00000264644.10 hg38 chr17 40,177,095 40,195,656 18,562
ENST00000456989.6 hg19 chr17 38,333,263 38,350,040 16,778
ENST00000544503.5 hg19 chr17 38,333,330 38,350,442 17,113
ENST00000264644.10 hg19 chr17 38,333,348 38,351,908 18,561
ENST00000620260.6 hg19 chr17 38,333,723 38,351,902 18,180
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