RGD:15102776 Rat Genome Database

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Variant: RGD:15102776 -  Homo sapiens

RGD ID: 15102776
RS ID: rs138127941
ClinVar ID: CV777971
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 117,718,523
GRCh38 12 117,280,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204218.2:c.1524+7G>A
NM_001204213.2:c.516+7G>A
NM_001204214.2:c.516+7G>A
NM_000620.5:c.1524+7G>A
More... 		03/09/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NOS1
Accession:NM_001204213
Location:INTRON

Gene Symbol:NOS1
Accession:NM_001204214
Location:INTRON

Gene Symbol:NOS1
Accession:NM_000620
Location:INTRON

Gene Symbol:NOS1
Accession:NM_001204218
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000959350 CLINVAR
dbSNP (RS) rs138127941 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOS1 CLINVAR
OMIM 163731 CLINVAR