RGD:12848100 Rat Genome Database

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Variant: RGD:12848100 -  Homo sapiens

RGD ID: 12848100
RS ID: rs201869639
ClinVar ID: CV370296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 140,040,366
GRCh38 9 137,145,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011507.1:g.11758C>T
NC_000009.12:g.137145914C>T
NC_000009.11:g.140040366C>T
NM_000832.7:c.570+12C>T
More... 		11/23/2021 intron variant benign|likely benign AllHighlyPenetrant; 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:XM_005266073
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_007327
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_000832
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_005266072
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_005266071
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_001185091
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_001185090
Location:INTRON

Gene Symbol:GRIN1
Accession:XM_011518583
Location:INTRON

Gene Symbol:GRIN1
Accession:NM_021569
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000444679 CLINVAR
  RCV002059000 CLINVAR
dbSNP (RS) rs201869639 CLINVAR
MedGen C3280282 CLINVAR
  CN169374 CLINVAR
NCBI Gene GRIN1 CLINVAR
OMIM 138249 CLINVAR
  614254 CLINVAR