SNRNP200 small nuclear ribonucleoprotein U5 subunit 200

Information
Symbol
SNRNP200
Type
protein-coding
Description
small nuclear ribonucleoprotein U5 subunit 200
Entrez Gene ID
23020
Genome
hg19
Position
chr2:96,940,076-96,971,284
Genome
hg38
Position
chr2:96,274,338-96,305,546
MIM
601664 OMIM
HGNC
HGNC:30859 HGNC
Ensembl
ENSG00000144028 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 16
Likely pathogenic 0 24
Benign 12 124
Likely benign 0 1,102
Conflicting classifications of pathogenicity 0 114
not provided 2 0
Uncertain significance 0 1,006
Ranking
ClinVar
0
0
232
1,964
12
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 ASCC3L1
SYNONYM BRR2
SYNONYM HELIC2
SYNONYM RP33
SYNONYM U5-200KD
MIM 601664 OMIM
HGNC HGNC:30859 HGNC
Ensembl ENSG00000144028 Ensembl
AllianceGenome HGNC:30859
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323853.10 hg38 chr2 96,274,338 96,305,546 31,209
ENST00000323853.10 hg19 chr2 96,940,076 96,971,284 31,209
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