QRICH2 glutamine rich 2

Information
Symbol
QRICH2
Type
protein-coding
Description
glutamine rich 2
Entrez Gene ID
84074
Genome
hg19
Position
chr17:74,270,130-74,304,357
Genome
hg38
Position
chr17:76,274,049-76,308,276
MIM
618304 OMIM
HGNC
HGNC:25326 HGNC
Ensembl
ENSG00000129646 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 86
Likely benign 0 62
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 180
Ranking
ClinVar
0
0
14
314
8
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 SPGF35
MIM 618304 OMIM
HGNC HGNC:25326 HGNC
Ensembl ENSG00000129646 Ensembl
AllianceGenome HGNC:25326
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262765.10 hg38 chr17 76,274,051 76,307,680 33,630
ENST00000636395.1 hg38 chr17 76,274,049 76,307,998 33,950
ENST00000680821.2 hg38 chr17 76,274,049 76,308,276 34,228
ENST00000636395.1 hg19 chr17 74,270,130 74,304,079 33,950
ENST00000680821.2 hg19 chr17 74,270,130 74,304,357 34,228
ENST00000262765.10 hg19 chr17 74,270,132 74,303,761 33,630
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