RGD:150466467 Rat Genome Database

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Variant: RGD:150466467 -  Homo sapiens

RGD ID: 150466467
RS ID: rs369370055
ClinVar ID: CV1201248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,397,914
GRCh38 9 136,503,462
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122:g.47325A>G
NC_000009.11:g.139397914T>C
LRG_1122t1:c.5019-132A>G
NM_017617.5:c.5019-132A>G
More... 		09/11/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001587728 CLINVAR
dbSNP (RS) rs369370055 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR