RGD:14711566 Rat Genome Database

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Variant: RGD:14711566 -  Homo sapiens

RGD ID: 14711566
RS ID: rs1596494606
ClinVar ID: CV652604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 9,943,608
GRCh38 16 9,849,751
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000833.5:c.1328+5G>A
NM_001134407.3:c.1328+5G>A
NM_001134408.2:c.1328+5G>A
NG_011812.2:g.338004G>A
More... 		08/29/2018 intron variant uncertain significance 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_017023172
Location:INTRON

Gene Symbol:GRIN2A
Accession:XM_047433993
Location:INTRON

Gene Symbol:GRIN2A
Accession:NM_001134408
Location:INTRON

Gene Symbol:GRIN2A
Accession:NM_001134407
Location:INTRON

Gene Symbol:GRIN2A
Accession:XM_017023173
Location:INTRON

Gene Symbol:GRIN2A
Accession:XM_047433994
Location:INTRON

Gene Symbol:GRIN2A
Accession:NM_000833
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000818215 CLINVAR
dbSNP (RS) rs1596494606 CLINVAR
MedGen C0282512 CLINVAR
NCBI Gene GRIN2A CLINVAR
OMIM 138253 CLINVAR
  245570 CLINVAR