RGD:11349727 Rat Genome Database

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Variant: RGD:11349727 -  Homo sapiens

RGD ID: 11349727
RS ID: rs376161552
ClinVar ID: CV240563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,401,429
GRCh38 9 136,506,977
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_007458.1:g.43810G>A
NC_000009.12:g.136506977C>T
NC_000009.11:g.139401429C>T
NM_017617.5:c.3644-4G>A
More...
08/24/2023 intron variant likely pathogenic|benign|likely benign|uncertain significance neonatal AllHighlyPenetrant; Connective tissue disease; none provided; Thoracic aortic aneurysms and dissections
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000231657 CLINVAR
  RCV000660158 CLINVAR
  RCV001580003 CLINVAR
  RCV002270044 CLINVAR
  RCV002313950 CLINVAR
  RCV003330599 CLINVAR
dbSNP (RS) rs376161552 CLINVAR
MedGen C0009782 CLINVAR
  C3661900 CLINVAR
  C3887892 CLINVAR
  C4014970 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 109730 CLINVAR
  190198 CLINVAR
  616028 CLINVAR