RRP7A ribosomal RNA processing 7 homolog A

Information
Symbol
RRP7A
Type
protein-coding
Description
ribosomal RNA processing 7 homolog A
Entrez Gene ID
27341
Genome
hg19
Position
chr22:42,904,350-42,915,802
Genome
hg38
Position
chr22:42,508,344-42,519,796
MIM
619449 OMIM
HGNC
HGNC:24286 HGNC
Ensembl
ENSG00000189306 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely benign 0 6
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
60
2
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 BK126B4.3
SYNONYM CGI-96
SYNONYM MCPH28
SYNONYM Rrp7
MIM 619449 OMIM
HGNC HGNC:24286 HGNC
Ensembl ENSG00000189306 Ensembl
AllianceGenome HGNC:24286
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323013.7 hg38 chr22 42,508,344 42,519,796 11,453
ENST00000323013.7 hg19 chr22 42,904,350 42,915,802 11,453
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