RGD:14711586 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:14711586 -  Homo sapiens

RGD ID: 14711586
RS ID: rs1588734042
ClinVar ID: CV651897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN1  LOC127816878  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 140,057,616
GRCh38 9 137,163,164
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000832.7:c.2172-5G>A
NM_007327.4:c.2172-5G>A
NM_021569.4:c.2172-5G>A
NM_001185090.2:c.2235-5G>A
More...
12/24/2018 intron variant uncertain significance Mental retardation, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIN1
Accession:NM_001185090
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_001185091
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_007327
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_021569
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_000832
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_005266073
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_005266072
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_005266071
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_011518583
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000818282 CLINVAR
dbSNP (RS) rs1588734042 CLINVAR
MedGen C3280282 CLINVAR
NCBI Gene GRIN1 CLINVAR
OMIM 138249 CLINVAR
  614254 CLINVAR