RGD:13537880 Rat Genome Database

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Variant: RGD:13537880 -  Homo sapiens

RGD ID: 13537880
RS ID: rs370602147
ClinVar ID: CV502776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOTCH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 139,396,558
GRCh38 9 136,502,106
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.48681C>T
NC_000009.12:g.136502106G>A
NC_000009.11:g.139396558G>A
NM_017617.3:c.5385-18C>T
More... 		03/15/2022 intron variant benign|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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000611023 CLINVAR
  RCV002063259 CLINVAR
  RCV002270773 CLINVAR
dbSNP (RS) rs370602147 CLINVAR
MedGen C3887892 CLINVAR
  C4014970 CLINVAR
  CN169374 CLINVAR
NCBI Gene NOTCH1 CLINVAR
OMIM 109730 CLINVAR
  190198 CLINVAR
  616028 CLINVAR