RGD:11665371 Rat Genome Database

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Variant: RGD:11665371 -  Homo sapiens

RGD ID: 11665371
RS ID: rs576585646
ClinVar ID: CV343146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 9,853,665
GRCh38 16 9,759,808
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
NC_000016.10:g.9759808A>G
NC_000016.9:g.9853665A>G
NM_000833.3:c.*3341T>C
NM_000833.5:c.*3341T>C
More... 		06/01/2022 3 prime utr variant benign|likely benign|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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIN2A
Accession:NM_001134407
Location:3UTRS;EXON

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

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

Gene Symbol:GRIN2A
Accession:XM_017023173
Location:3UTRS;EXON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000267571 CLINVAR
  RCV003409505 CLINVAR
dbSNP (RS) rs576585646 CLINVAR
MedGen C0282512 CLINVAR
  C3661900 CLINVAR
NCBI Gene GRIN2A CLINVAR
OMIM 138253 CLINVAR
  245570 CLINVAR