GRIA3 glutamate ionotropic receptor AMPA type subunit 3

Information
Symbol
GRIA3
Type
protein-coding
Description
glutamate ionotropic receptor AMPA type subunit 3
Entrez Gene ID
2892
Genome
hg19
Position
chrX:122,318,131-122,624,766
Genome
hg38
Position
chrX:123,184,278-123,490,915
MIM
305915 OMIM
HGNC
HGNC:4573 HGNC
Ensembl
ENSG00000125675 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 36
Benign 0 105
Likely benign 0 336
Conflicting classifications of pathogenicity 0 52
not provided 6 0
Uncertain significance 0 372
Ranking
ClinVar
0
0
123
732
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 GLUR-C
SYNONYM GLUR-K3
SYNONYM GLUR3
SYNONYM GLURC
SYNONYM GluA3
SYNONYM MRX94
SYNONYM MRXSW
SYNONYM iGluR3
MIM 305915 OMIM
HGNC HGNC:4573 HGNC
Ensembl ENSG00000125675 Ensembl
AllianceGenome HGNC:4573
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000620443.2 hg38 chrX 123,184,278 123,490,915 306,638
ENST00000616590.4 hg38 chrX 123,184,153 123,204,683 20,531
ENST00000622768.5 hg38 chrX 123,184,278 123,490,915 306,638
ENST00000611689.4 hg38 chrX 123,184,299 123,204,683 20,385
ENST00000616590.4 hg19 chrX 122,318,006 122,338,534 20,529
ENST00000620443.2 hg19 chrX 122,318,131 122,624,766 306,636
ENST00000622768.5 hg19 chrX 122,318,131 122,624,766 306,636
ENST00000611689.4 hg19 chrX 122,318,152 122,338,534 20,383
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