RP2 RP2 activator of ARL3 GTPase

Information
Symbol
RP2
Type
protein-coding
Description
RP2 activator of ARL3 GTPase
Entrez Gene ID
6102
Genome
hg19
Position
chrX:46,696,478-46,741,793
Genome
hg38
Position
chrX:46,837,043-46,882,358
MIM
300757 OMIM
HGNC
HGNC:10274 HGNC
Ensembl
ENSG00000102218 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 200
Likely pathogenic 0 74
Benign 0 92
Likely benign 0 136
Conflicting classifications of pathogenicity 0 28
not provided 6 0
Uncertain significance 0 258
Ranking
ClinVar
0
0
88
612
34
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 DELXp11.3
SYNONYM NM23-H10
SYNONYM NME10
SYNONYM TBCCD2
SYNONYM XRP2
MIM 300757 OMIM
HGNC HGNC:10274 HGNC
Ensembl ENSG00000102218 Ensembl
AllianceGenome HGNC:10274
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000218340.4 hg38 chrX 46,837,043 46,882,358 45,316
ENST00000218340.4 hg19 chrX 46,696,478 46,741,793 45,316
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