RGD:152083282 Rat Genome Database

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Variant: RGD:152083282 -  Homo sapiens

RGD ID: 152083282
RS ID: rs776640246
ClinVar ID: CV1655084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,396,445
GRCh38 9 136,501,993
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122t1:c.5472+8G>A
NM_017617.5:c.5472+8G>A
LRG_1122:g.48794G>A
NG_007458.1:g.48794G>A
More... 		08/17/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002113048 CLINVAR
dbSNP (RS) rs776640246 CLINVAR
MedGen C4014970 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 190198 CLINVAR
  616028 CLINVAR