RGD:11665642 Rat Genome Database

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Variant: RGD:11665642 -  Homo sapiens

RGD ID: 11665642
RS ID: rs141956850
ClinVar ID: CV343174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 9,856,967
GRCh38 16 9,763,110
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.9763110C>T
NC_000016.9:g.9856967C>T
NM_000833.3:c.*39G>A
NM_001134408.2:c.*245G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign 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:NM_000833
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_001134407
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000284367 CLINVAR
dbSNP (RS) rs141956850 CLINVAR
MedGen C0282512 CLINVAR
NCBI Gene GRIN2A CLINVAR
OMIM 138253 CLINVAR
  245570 CLINVAR