RGD:13525870 Rat Genome Database

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Variant: RGD:13525870 -  Homo sapiens

RGD ID: 13525870
RS ID: rs781139940
ClinVar ID: CV503284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902310  NOTCH1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 139,405,273
GRCh38 9 136,510,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017617.5:c.2588-16T>G
NG_007458.1:g.39966T>G
NC_000009.12:g.136510821A>C
NC_000009.11:g.139405273A>C
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:XM_011518717
Location:INTRON

Gene Symbol:NOTCH1
Accession:NM_017617
Location:INTRON

Gene Symbol:LOC124902310
Accession:XR_007061864
Location:INTRON;NON-CODING

Gene Symbol:LOC124902310
Accession:XR_007061865
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000603509 CLINVAR
  RCV002064258 CLINVAR
  RCV002270839 CLINVAR
dbSNP (RS) rs781139940 CLINVAR
MedGen C3887892 CLINVAR
  C4014970 CLINVAR
  CN169374 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 109730 CLINVAR
  190198 CLINVAR
  616028 CLINVAR