RGD:13535640 Rat Genome Database

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Variant: RGD:13535640 -  Homo sapiens

RGD ID: 13535640
RS ID: rs199870929
ClinVar ID: CV503342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIN1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 140,059,759
GRCh38 9 137,165,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001185091.2:c.2652+1403G>C
NM_007327.4:c.2700+11G>C
NM_001185090.2:c.2763+11G>C
NG_011507.1:g.31151G>C
More...
09/21/2017 intron variant likely benign AllHighlyPenetrant; Mental retardation, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

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 RCV000607914 CLINVAR
  RCV003642907 CLINVAR
dbSNP (RS) rs199870929 CLINVAR
MedGen C3280282 CLINVAR
  CN169374 CLINVAR
NCBI Gene GRIN1 CLINVAR
OMIM 138249 CLINVAR
  614254 CLINVAR