RGD:13537793 Rat Genome Database

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Variant: RGD:13537793 -  Homo sapiens

RGD ID: 13537793
RS ID: rs200371378
ClinVar ID: CV502449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860794  NOTCH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,393,342
GRCh38 9 136,498,890
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1122:g.51897G>A
NG_007458.1:g.51897G>A
NC_000009.12:g.136498890C>T
NC_000009.11:g.139393342C>T
More... 		03/15/2022 intron variant likely benign AllHighlyPenetrant
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 RCV000610893 CLINVAR
  RCV000655300 CLINVAR
  RCV002270834 CLINVAR
  RCV003905629 CLINVAR
dbSNP (RS) rs200371378 CLINVAR
MedGen C3887892 CLINVAR
  C4014970 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC126860794 CLINVAR
  NOTCH1 CLINVAR
OMIM 109730 CLINVAR
  190198 CLINVAR
  616028 CLINVAR