RGD:11666481 Rat Genome Database

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Variant: RGD:11666481 -  Homo sapiens

RGD ID: 11666481
RS ID: rs886052538
ClinVar ID: CV336909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 9,854,171
GRCh38 16 9,760,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001134407.3:c.*2835C>T
NC_000016.10:g.9760314G>A
NC_000016.9:g.9854171G>A
NM_000833.3:c.*2835C>T
More... 		06/14/2016 3 prime utr variant uncertain significance childhood 1-9 / 1 000 000 Acquired aphasia with convulsive disorder; Acquired epileptiform aphasia; APHASIA, ACQUIRED, WITH EPILEPSY; Epilepsy with neurodevelopmental defects; EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIN2A
Accession:XM_017023173
Location:3UTRS;EXON

Gene Symbol:GRIN2A
Accession:NM_001134407
Location:3UTRS;EXON

Gene Symbol:GRIN2A
Accession:XM_047433993
Location:3UTRS;EXON

Gene Symbol:GRIN2A
Accession:XM_017023172
Location:3UTRS;EXON

Gene Symbol:GRIN2A
Accession:XM_047433994
Location:3UTRS;EXON

Gene Symbol:GRIN2A
Accession:NM_001134408
Location:3UTRS;EXON

Gene Symbol:GRIN2A
Accession:NM_000833
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000349151 CLINVAR
dbSNP (RS) rs886052538 CLINVAR
MedGen C0282512 CLINVAR
NCBI Gene GRIN2A CLINVAR
OMIM 138253 CLINVAR
  245570 CLINVAR