RPP40 ribonuclease P/MRP subunit p40

Information
Symbol
RPP40
Type
protein-coding
Description
ribonuclease P/MRP subunit p40
Entrez Gene ID
10799
Genome
hg19
Position
chr6:4,994,951-5,004,271
Genome
hg38
Position
chr6:4,994,717-5,004,037
MIM
606117 OMIM
HGNC
HGNC:20992 HGNC
Ensembl
ENSG00000124787 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
28
0
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 :
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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 RNASEP1
SYNONYM bA428J1.3
MIM 606117 OMIM
HGNC HGNC:20992 HGNC
Ensembl ENSG00000124787 Ensembl
AllianceGenome HGNC:20992
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000464646.1 hg38 chr6 4,995,078 5,003,658 8,581
ENST00000618533.4 hg38 chr6 4,995,049 5,004,063 9,015
ENST00000319533.9 hg38 chr6 4,995,047 5,004,036 8,990
ENST00000380051.7 hg38 chr6 4,994,717 5,004,037 9,321
ENST00000380051.7 hg19 chr6 4,994,951 5,004,271 9,321
ENST00000319533.9 hg19 chr6 4,995,281 5,004,270 8,990
ENST00000618533.4 hg19 chr6 4,995,283 5,004,297 9,015
ENST00000464646.1 hg19 chr6 4,995,312 5,003,892 8,581
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