RGD:13532431 Rat Genome Database

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Variant: RGD:13532431 -  Homo sapiens

RGD ID: 13532431
RS ID: rs755674060
ClinVar ID: CV502460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,396,434
GRCh38 9 136,501,982
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122:g.48805G>C
LRG_1122t1:c.5472+19G>C
NC_000009.11:g.139396434C>G
NM_017617.3:c.5472+19G>C
More... 		03/15/2022 intron variant benign|likely benign AllHighlyPenetrant; Connective tissue disease
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 RCV000606795 CLINVAR
  RCV000680586 CLINVAR
  RCV002062893 CLINVAR
  RCV002270734 CLINVAR
dbSNP (RS) rs755674060 CLINVAR
MedGen C0009782 CLINVAR
  C3887892 CLINVAR
  C4014970 CLINVAR
  CN169374 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 109730 CLINVAR
  190198 CLINVAR
  616028 CLINVAR