DRP2 dystrophin related protein 2

Information
Symbol
DRP2
Type
protein-coding
Description
dystrophin related protein 2
Entrez Gene ID
1821
Genome
hg19
Position
chrX:100,474,775-100,519,491
Genome
hg38
Position
chrX:101,219,786-101,264,502
MIM
300052 OMIM
HGNC
HGNC:3032 HGNC
Ensembl
ENSG00000102385 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 6
Benign 0 92
Likely benign 0 276
Conflicting classifications of pathogenicity 0 20
not provided 6 0
Uncertain significance 0 428
Ranking
ClinVar
0
0
72
736
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
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 DRP-2
MIM 300052 OMIM
HGNC HGNC:3032 HGNC
Ensembl ENSG00000102385 Ensembl
AllianceGenome HGNC:3032
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395209.8 hg38 chrX 101,219,786 101,264,502 44,717
ENST00000541709.5 hg38 chrX 101,219,944 101,264,496 44,553
ENST00000402866.5 hg38 chrX 101,219,769 101,264,497 44,729
ENST00000538510.1 hg38 chrX 101,231,545 101,264,496 32,952
ENST00000402866.5 hg19 chrX 100,474,758 100,519,486 44,729
ENST00000395209.8 hg19 chrX 100,474,775 100,519,491 44,717
ENST00000541709.5 hg19 chrX 100,474,933 100,519,485 44,553
ENST00000538510.1 hg19 chrX 100,486,534 100,519,485 32,952
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