RGD:13536544 Rat Genome Database

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Variant: RGD:13536544 -  Homo sapiens

RGD ID: 13536544
RS ID: rs570242146
ClinVar ID: CV502459
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860794  NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,393,452
GRCh38 9 136,499,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007458.1:g.51787G>A
NC_000009.12:g.136499000C>T
NC_000009.11:g.139393452C>T
NM_017617.3:c.6083-4G>A
More... 		03/15/2022 intron variant benign|likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOTCH1
Accession:XM_011518717
Location:INTRON

Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:30675029  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609160 CLINVAR
  RCV001580037 CLINVAR
  RCV002062991 CLINVAR
  RCV002270741 CLINVAR
dbSNP (RS) rs570242146 CLINVAR
MedGen C3661900 CLINVAR
  C3887892 CLINVAR
  C4014970 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC126860794 CLINVAR
  NOTCH1 CLINVAR
OMIM 109730 CLINVAR
  190198 CLINVAR
  616028 CLINVAR